René Santer

The share of this author’s assessed papers carrying a ⚑ flag. A concentration is a prompt for expert review — never, on its own, a determination about the person.

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How this author’s assessed papers reproduced — the outcome of reproduction attempts, not a judgement of the person. Coverage is partial and grows over time.

Assessed papers (2)

• A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay.
  2018 L1 76/100
• Homozygosity for a partial deletion of apoprotein A-V signal peptide results in intracellular missorting of the protein and chylomicronemia in a breast-fed infant
  2014 L1 No computation

2 assessed by us (1 reproduced) · 276 not yet assessed — every PubMed paper on record, linked below.

• Phase 3 Randomized Trial Results of DTX401 AAV Gene Therapy for the Treatment of GSDIa ↗

  Journal of Inherited Metabolic Disease · 2026 · PMID 42674977
  not yet assessed
• Genetic screening of children for familial hypercholesterolaemia: the VRONI study ↗

  European Heart Journal · 2026 · PMID 42301736
  not yet assessed
• Transaldolase deficiency – natural disease course towards adulthood ↗

  Molecular Genetics and Metabolism · 2026 · PMID 41806563
  not yet assessed
• Quantification of Specific Urinary Oligosaccharide Biomarkers for Diagnosis and Treatment Monitoring of Alpha‐Mannosidosis ↗

  Journal of Inherited Metabolic Disease · 2026 · PMID 42175676
  not yet assessed
• Quantification of Specific Urinary Oligosaccharide Biomarkers for Diagnosis and Treatment Monitoring of alpha-Mannosidosis ↗

  Figshare · 2026
  not yet assessed
• Quantification of Specific Urinary Oligosaccharide Biomarkers for Diagnosis and Treatment Monitoring of alpha-Mannosidosis ↗

  Figshare · 2026
  not yet assessed
• Alpha-Mannosidosis: Quantification of Urinary Biomarkers for Treatment Monitoring and Diagnosis ↗

  2026
  not yet assessed
• Mitochondrial diabetes mellitus: real world insights from the GENOMIT registry–a multinational, longitudinal cohort study ↗

  EBioMedicine · 2026 · PMID 42679752
  not yet assessed
• Characterization and treatment monitoring of ureagenesis disorders using stable isotopes ↗

  npj Metabolic Health and Disease · 2025 · PMID 40343092
  not yet assessed
• Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome – implications from a multi-center retrospective cohort study ↗

  Molecular Genetics and Metabolism · 2025 · PMID 40714654
  not yet assessed
• Efficacy and safety results from a pivotal phase 3 trial of DTX401, an AAV8-mediated liver-directed gene therapy, in individuals with glycogen storage disease type Ia (GSDIa) ↗

  Endocrine Abstracts · 2025
  not yet assessed
• Hearing rehabilitation in SERAC1 related MEGD(H)EL syndrome - implications from a multi-center retrospective cohort study ↗

  Zurich Open Repository and Archive (University of Zurich) · 2025
  not yet assessed
• Treatment Outcomes for Maple Syrup Urine Disease Detected by Newborn Screening ↗

  PEDIATRICS · 2024 · PMID 38957900
  not yet assessed
• Deoxyguanosine kinase deficiency: natural history and liver transplant outcome ↗

  Brain Communications · 2024 · PMID 38756539
  not yet assessed
• Neurological outcome in long‐chain hydroxy fatty acid oxidation disorders ↗

  Annals of Clinical and Translational Neurology · 2024 · PMID 38263760
  not yet assessed
• Repurposing SGLT2 inhibitors: Treatment of renal proximal tubulopathy in Fanconi‐Bickel syndrome with empagliflozin ↗

  Journal of Inherited Metabolic Disease · 2024 · PMID 38802119
  not yet assessed
• Quantification of N-acetyl-l-aspartate in dried blood spots: A simple and fast LC-MS/MS neonatal screening method for the diagnosis of Canavan disease ↗

  Molecular Genetics and Metabolism · 2024 · PMID 38718669
  not yet assessed
• Spectrum of Disease Severity in Canavan Leukodystrophy ↗

  Neuropediatrics · 2024
  not yet assessed
• Genetic landscape of pediatric acute liver failure of indeterminate origin ↗

  Hepatology · 2023 · PMID 37976411
  not yet assessed
• Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment ↗

  Journal of Inherited Metabolic Disease · 2023 · PMID 37429829
  not yet assessed
• Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease ↗

  Molecular Genetics and Metabolism · 2023 · PMID 37572574
  not yet assessed
• Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants ↗

  Genetics in Medicine · 2023 · PMID 37272928
  not yet assessed
• CNS Manifestations in Mucolipidosis Type II—A Retrospective Analysis of Longitudinal Data on Neurocognitive Development and Neuroimaging in Eleven Patients ↗

  Journal of Clinical Medicine · 2023 · PMID 37373807
  not yet assessed
• Liver transplantation in glycogen storage disease type Ib: The role of SGLT2 inhibitors ↗

  Molecular Genetics and Metabolism Reports · 2023 · PMID 37275680
  not yet assessed
• Hearing Rehabilitation in Patients with SERAC1 Related MEGD(H)EL Syndrome ↗

  Research Square · 2023
  not yet assessed
• Dominant-negative effect of lactase missense variants: hetero-complex assembly with the wild-type enzyme impairs intracellular trafficking and digestive function ↗

  Gut · 2023 · PMID 38124012
  not yet assessed
• Neurological Outcome in Screened Individuals with LCHAD/MTP Deficiency ↗

  Neuropediatrics · 2023
  not yet assessed
• Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire ↗

  Genetics in Medicine · 2022 · PMID 35503103
  not yet assessed
• Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis ↗

  Redox Biology · 2022 · PMID 36306676
  not yet assessed
• Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier ↗

  Nutrients · 2022 · PMID 36079864
  not yet assessed
• Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria ↗

  Journal of Inherited Metabolic Disease · 2022 · PMID 36054426
  not yet assessed
• The motor system is exceptionally vulnerable to absence of the ubiquitously expressed superoxide dismutase-1 ↗

  Brain Communications · 2022 · PMID 36793789
  not yet assessed
• Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants ↗

  Genetics in Medicine · 2022 · PMID 36305855
  not yet assessed
• Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia ↗

  Annals of Neurology · 2022 · PMID 35616651
  not yet assessed
• Neonatal screening for isovaleric aciduria: Reducing the increasingly high false‐positive rate in Germany ↗

  JIMD Reports · 2022 · PMID 36636590
  not yet assessed
• Effects of Infantile Hypophosphatasia on Human Dental Tissue ↗

  Calcified Tissue International · 2022 · PMID 36414794
  not yet assessed
• Impact of the SARS‐CoV ‐2 pandemic on the health of individuals with intoxication‐type metabolic diseases—Data from the E‐IMD consortium ↗

  Journal of Inherited Metabolic Disease · 2022 · PMID 36266255
  not yet assessed
• Pathogenic variants inGCSHencoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency ↗

  Human Molecular Genetics · 2022 · PMID 36190515
  not yet assessed
• Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies ↗

  European Journal of Human Genetics · 2022 · PMID 35304602
  not yet assessed
• Disorders of Fructose Metabolism ↗

  2022
  not yet assessed
• Hypomorphic variants of lactase-phlorizin hydrolase in congenital lactase deficiency are trafficking incompetent and functionally inactive ↗

  Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 2022 · PMID 35007711
  not yet assessed
• Disorders of Glucose and Monocarboxylate Transporters ↗

  2022
  not yet assessed
• Anaesthesia-Relevant Disease Manifestations and Perianaesthetic Complications in Patients with Mucolipidosis—A Retrospective Analysis of 44 Anaesthetic Cases in 12 Patients ↗

  Journal of Clinical Medicine · 2022 · PMID 35806935
  not yet assessed
• Neurocognitive development and adaptive behavior in mucolipidosis type II: A retrospective analysis of 11 patients ↗

  Molecular Genetics and Metabolism · 2022
  not yet assessed
• Homozygosity for a 3 bp-deletion in BOLA3 Causes a Severe Cardiac Phenotype in Early Childhood with Lethal Outcome ↗

  The Thoracic and Cardiovascular Surgeon · 2022
  not yet assessed
• Disorders of Carbohydrate Absorption, Transmembrane Transport and Metabolism ↗

  2022
  not yet assessed
• Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines ↗

  Nature Communications · 2021 · PMID 34545092
  not yet assessed
• Newborn screening and disease variants predict neurological outcome in isovaleric aciduria ↗

  Journal of Inherited Metabolic Disease · 2021 · PMID 33496032
  not yet assessed
• Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis ↗

  Neonatology · 2021 · PMID 34237744
  not yet assessed
• Congenital disorders of glycosylation with defective fucosylation ↗

  Journal of Inherited Metabolic Disease · 2021 · PMID 34389986
  not yet assessed
• Longitudinal Development of Antibody Responses in COVID-19 Patients of Different Severity with ELISA, Peptide, and Glycan Arrays: An Immunological Case Series ↗

  Pathogens · 2021 · PMID 33917609
  not yet assessed
• The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein ↗

  Journal of Inherited Metabolic Disease · 2021 · PMID 33638202
  not yet assessed
• Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients ↗

  Journal of Inherited Metabolic Disease · 2021 · PMID 33443316
  not yet assessed
• Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort ↗

  Clinical Genetics · 2021 · PMID 34490615
  not yet assessed
• The novel GCK variant p.Val455Leu associated with hyperinsulinism is susceptible to allosteric activation and is conducive to weight gain and the development of diabetes ↗

  Diabetologia · 2021 · PMID 34532767
  not yet assessed
• Evidence for a Genotype–Phenotype Correlation in Patients with Pathogenic GLUT2 (SLC2A2) Variants ↗

  Genes · 2021 · PMID 34828390
  not yet assessed
• Newborn screening for metachromatic leukodystrophy in Northern Germany- a prospective study ↗

  Molecular Genetics and Metabolism · 2021
  not yet assessed
• A Case Series on Genotype and Outcome of Liver Transplantation in Children with Niemann-Pick Disease Type C ↗

  Children · 2021 · PMID 34572251
  not yet assessed
• Integration of proteomics with genomics and transcriptomics increases the diagnostic rate of Mendelian disorders ↗

  medRxiv · 2021
  not yet assessed
• Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes ↗

  medRxiv · 2021
  not yet assessed
• Author response for "Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort" ↗

  2021
  not yet assessed
• An Integrative Approach to Predict Phenotypic Severity in Nonketotic Hyperglycinemia ↗

  SSRN Electronic Journal · 2021
  not yet assessed
• Supplementary Material for: Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis ↗

  Figshare · 2021
  not yet assessed
• Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder ↗

  Brain · 2020 · PMID 32761064
  not yet assessed
• SARS Coronavirus-2 variant tracing within the first Coronavirus Disease 19 clusters in northern Germany ↗

  Clinical Microbiology and Infection · 2020 · PMID 33007476
  not yet assessed
• Impact of interventional and non‐interventional variables on anthropometric long‐term development in glutaric aciduria type 1: A national prospective multi‐centre study ↗

  Journal of Inherited Metabolic Disease · 2020 · PMID 33274439
  not yet assessed
• Long-term effects of medical management on growth and weight in individuals with urea cycle disorders ↗

  Scientific Reports · 2020 · PMID 32686765
  not yet assessed
• Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiency ↗

  Molecular Genetics and Metabolism Reports · 2020 · PMID 33294374
  not yet assessed
• Retained visual function in a subset of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) ↗

  Ophthalmic Genetics · 2020 · PMID 33107778
  not yet assessed
• Hip Morphology in Mucolipidosis Type II ↗

  Journal of Clinical Medicine · 2020 · PMID 32182687
  not yet assessed
• Distinct early IgA profile may determine severity of COVID-19 symptoms: an immunological case series ↗

  medRxiv · 2020
  not yet assessed
• Low and high infection dose transmissions of SARS-CoV-2 in the first COVID-19 clusters in Northern Germany ↗

  medRxiv · 2020
  not yet assessed
• Infection Control and Virological Assessment of the First Cluster of COVID-19 in Northern Germany ↗

  SSRN Electronic Journal · 2020
  not yet assessed
• Molecular and cellular analysis of intestinal lactase‐phlorizin hydrolase gene variants unravel a heterogeneous pathogenic pattern of congenital lactase deficiency ↗

  The FASEB Journal · 2020
  not yet assessed
• Genetische Defekte des Monosaccharidstoffwechsels ↗

  Springer Reference Medizin · 2020
  not yet assessed
• Comparison of tripeptidyl peptidase 1 (CLN2) measurement by fluorometry and tandem mass spectrometry ↗

  Molecular Genetics and Metabolism · 2020
  not yet assessed
• Targeted-population screening for mucopolysaccharidoses: Results of the assessment of >9000 samples ↗

  Molecular Genetics and Metabolism · 2020
  not yet assessed
• Neugeborenenscreening ↗

  Springer Reference Medizin · 2020
  not yet assessed
• Glykogenspeicherkrankheiten ↗

  Springer Reference Medizin · 2020
  not yet assessed
• Neugeborenenscreening ↗

  Springer Reference Medizin · 2020
  not yet assessed
• Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision ↗

  Journal of Inherited Metabolic Disease · 2019 · PMID 30982989
  not yet assessed
• Paralog Studies Augment Gene Discovery: DDX and DHX Genes ↗

  The American Journal of Human Genetics · 2019 · PMID 31256877
  not yet assessed
• Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients ↗

  Genetics in Medicine · 2019 · PMID 31761904
  not yet assessed
• Phenotype in an Infant with SOD1 Homozygous Truncating Mutation ↗

  New England Journal of Medicine · 2019 · PMID 31314961
  not yet assessed
• Surgical Aspects of Liver Transplantation and Domino Liver Transplantation in Maple Syrup Urine Disease: Analysis of 15 Donor‐Recipient Pairs ↗

  Liver Transplantation · 2019 · PMID 30712285
  not yet assessed
• Exome Sequencing in Children ↗

  Deutsches Ärzteblatt international · 2019 · PMID 31056085
  not yet assessed
• Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi‐Bickel syndrome ↗

  Journal of Inherited Metabolic Disease · 2019 · PMID 31816104
  not yet assessed
• Validity of a rapid and simple fluorometric tripeptidyl peptidase 1 (TPP1) assay using dried blood specimens to diagnose CLN2 disease ↗

  Clinica Chimica Acta · 2019 · PMID 30771299
  not yet assessed
• Twelve-year experience with a rapid and simple fluorometric tripeptidyl peptidase 1 (TPP1) assay using dried blood specimens to diagnose CLN2 disease ↗

  Molecular Genetics and Metabolism · 2019
  not yet assessed
• Genetische Defekte des Monosaccharidstoffwechsels ↗

  Springer Reference Medizin · 2019
  not yet assessed
• Glykogenspeicherkrankheiten ↗

  Basiswissen Psychologie · 2019
  not yet assessed
• TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants ↗

  Genetics in Medicine · 2018 · PMID 30245509
  not yet assessed
• Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder ↗

  The American Journal of Human Genetics · 2018 · PMID 30290153
  not yet assessed
• A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay

  Neurogenetics · 2018 · PMID 29808465
  L1 76/100
• Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants ↗

  Genetics in Medicine · 2018 · PMID 30327536
  not yet assessed
• Morbus Niemann-Pick Typ B – Eine seltene lysosomale Speichererkrankung – Ein Patientenfall mit pulmonaler Beteiligung ↗

  Pneumologie · 2018
  not yet assessed
• Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome ↗

  The American Journal of Human Genetics · 2017 · PMID 28132690
  not yet assessed
• SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy ↗

  Genetics in Medicine · 2017 · PMID 28749473
  not yet assessed
• Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases ↗

  Annals of Neurology · 2017 · PMID 29205472
  not yet assessed
• 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients ↗

  Molecular Genetics and Metabolism · 2017 · PMID 28583327
  not yet assessed
• An overview of combined D‐2‐ and L‐2‐hydroxyglutaric aciduria: functional analysis of CIC variants ↗

  Journal of Inherited Metabolic Disease · 2017 · PMID 29238895
  not yet assessed
• Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A‐deficient immortalized mesenchymal stromal cells ↗

  Human Mutation · 2017 · PMID 28762252
  not yet assessed
• LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study ↗

  Mitochondrion · 2017 · PMID 28694194
  not yet assessed
• Glutaric Aciduria Type 1 and Acute Renal Failure: Case Report and Suggested Pathomechanisms ↗

  JIMD Reports · 2017 · PMID 28699143
  not yet assessed
• De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype ↗

  The American Journal of Human Genetics · 2017
  not yet assessed
• The first case of domino‐split‐liver transplantation in maple syrup urine disease ↗

  Pediatric Transplantation · 2017 · PMID 28580726
  not yet assessed
• Group 3 medulloblastoma in a patient with a GYS2 germline mutation and glycogen storage disease 0a ↗

  Child s Nervous System · 2017 · PMID 29167993
  not yet assessed
• The Potential of Whole-Exome Sequencing (WES) in Neuropediatric Patients: Single-Center Experience at the University Hospital Hamburg Eppendorf ↗

  Neuropediatrics · 2017
  not yet assessed
• Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome ↗

  Journal of Inherited Metabolic Disease · 2016 · PMID 27106217
  not yet assessed
• Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in Patients With Juvenile Metachromatic Leukodystrophy Compared With Nontransplanted Control Patients ↗

  JAMA Neurology · 2016 · PMID 27400410
  not yet assessed
• Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy ↗

  The American Journal of Human Genetics · 2016 · PMID 26805782
  not yet assessed
• MAP17 Is a Necessary Activator of Renal Na+/Glucose Cotransporter SGLT2 ↗

  Journal of the American Society of Nephrology · 2016 · PMID 27288013
  not yet assessed
• De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype ↗

  The American Journal of Human Genetics · 2016 · PMID 27693232
  not yet assessed
• Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis ↗

  Genetics in Medicine · 2016 · PMID 26913920
  not yet assessed
• A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis ↗

  Orphanet Journal of Rare Diseases · 2016 · PMID 27101822
  not yet assessed
• Phenylketonuria: Direct and indirect effects of phenylalanine ↗

  Experimental Neurology · 2016 · PMID 27091224
  not yet assessed
• Hyperinsulinism-hyperammonemia syndrome: a de novo mutation of the GLUD1 gene in twins and a review of the literature ↗

  Journal of Pediatric Endocrinology and Metabolism · 2016 · PMID 27383869
  not yet assessed
• Disorders of Glucose Transport ↗

  2016
  not yet assessed
• Disorders of Fructose Metabolism ↗

  2016
  not yet assessed
• Possibilities for an early diagnosis of CLN2-disease ↗

  Molecular Genetics and Metabolism · 2016
  not yet assessed
• Erratum: Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis ↗

  Genetics in Medicine · 2016 · PMID 27304993
  not yet assessed
• A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis ↗

  Zurich Open Repository and Archive (University of Zurich) · 2016
  not yet assessed
• SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation ↗

  The American Journal of Human Genetics · 2015 · PMID 26637979
  not yet assessed
• TMEM165 Deficiency: Postnatal Changes in Glycosylation ↗

  JIMD Reports · 2015 · PMID 26238249
  not yet assessed
• A novel mutation within the lactase gene (LCT): the first report of congenital lactase deficiency diagnosed in Central Europe ↗

  BMC Gastroenterology · 2015 · PMID 26215149
  not yet assessed
• Eyes on MEGDEL: Distinctive Basal Ganglia Involvement in Dystonia Deafness Syndrome ↗

  Neuropediatrics · 2015 · PMID 25642805
  not yet assessed
• Site-1 protease-activated formation of lysosomal targeting motifs is independent of the lipogenic transcription control ↗

  Journal of Lipid Research · 2015 · PMID 26108224
  not yet assessed
• Konfirmationsdiagnostik bei Verdacht auf angeborene Stoffwechselkrankheiten aus dem Neugeborenenscreening ↗

  Elsevier eBooks · 2015
  not yet assessed
• PP03.8 – 2898: Late language acquisition and unexplained epilepsy are indicators of easily detectable CLN2 disease ↗

  European Journal of Paediatric Neurology · 2015
  not yet assessed
• Case Report: Hypothyroidism and Acth-Deficiency Caused by TBX 19 Mutation Coincidence or Pathogenetic Correlation?

  54th ESPE Meeting (ESPE 2015) · 2015
  not yet assessed
• Glykogenspeicherkrankheiten ↗

  Pädiatrie · 2015
  not yet assessed
• Genetische Defekte des Monosaccharidstoffwechsels ↗

  Pädiatrie · 2015
  not yet assessed
• Neugeborenenscreening ↗

  Pädiatrie · 2015
  not yet assessed
• Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice ↗

  Orphanet Journal of Rare Diseases · 2014 · PMID 25081276
  not yet assessed
• Outcome of Patients with Classical Infantile Pompe Disease Receiving Enzyme Replacement Therapy in Germany ↗

  JIMD Reports · 2014 · PMID 25626711
  not yet assessed
• Long-term outcomes after liver transplantation for deoxyguanosine kinase deficiency: A single-center experience and a review of the literature ↗

  Liver Transplantation · 2014 · PMID 24478274
  not yet assessed
• Nectin-4 Mutations Causing Ectodermal Dysplasia with Syndactyly Perturb the Rac1 Pathway and the Kinetics of Adherens Junction Formation ↗

  Journal of Investigative Dermatology · 2014 · PMID 24577405
  not yet assessed
• Combined D2‐/L2‐hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatment ↗

  Journal of Inherited Metabolic Disease · 2014 · PMID 24687295
  not yet assessed
• Hippocampal synaptic connectivity in phenylketonuria ↗

  Human Molecular Genetics · 2014 · PMID 25296915
  not yet assessed
• Homozygosity for a partial deletion of apoprotein A-V signal peptide results in intracellular missorting of the protein and chylomicronemia in a breast-fed infant

  Atherosclerosis · 2014 · PMID 24529129
  L1 No computation
• Dried Blood Spots Allow Targeted Screening to Diagnose Mucopolysaccharidosis and Mucolipidosis ↗

  JIMD Reports · 2014 · PMID 24798265
  not yet assessed
• Disorders of Carbohydrate Metabolism and Glucose Transport ↗

  2014
  not yet assessed
• Störungen des Monosaccharidstoffwechsels ↗

  Pädiatrie · 2014
  not yet assessed
• Target-population screening for lysosomal disorders - a highly efficient tool for the diagnosis of patients ↗

  Molecular Genetics and Metabolism · 2014
  not yet assessed
• Speicherkrankheiten ↗

  Pädiatrie · 2014
  not yet assessed
• No Correlation between AVPR1A Promoter Polymorphisms and Prepulse Inhibition in Patients with Nocturnal Enuresis ↗

  Open Journal of Nephrology · 2014
  not yet assessed
• Two Faces of Genetic Epilepsy Caused by a Mutation in the SCN8A Gene ↗

  Neuropediatrics · 2014
  not yet assessed
• Neonatale Stoffwechselentgleisung – Hyperventilation bei Hyperammoniämie ↗

  Zeitschrift für Geburtshilfe und Neonatologie · 2014 · PMID 25658011
  not yet assessed
• Stoffwechselscreening ↗

  Pädiatrie · 2014
  not yet assessed
• Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients ↗

  Orphanet Journal of Rare Diseases · 2013 · PMID 23305374
  not yet assessed
• Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria ↗

  The American Journal of Human Genetics · 2013 · PMID 23561848
  not yet assessed
• Cross‐sectional observational study of 208 patients with non‐classical urea cycle disorders ↗

  Journal of Inherited Metabolic Disease · 2013 · PMID 23780642
  not yet assessed
• CLCN7 and TCIRG1 Mutations Differentially Affect Bone Matrix Mineralization in Osteopetrotic Individuals ↗

  Journal of Bone and Mineral Research · 2013 · PMID 24108692
  not yet assessed
• Decreased bone formation and increased osteoclastogenesis cause bone loss in mucolipidosis II ↗

  EMBO Molecular Medicine · 2013 · PMID 24127423
  not yet assessed
• Transient pseudo-hypertriglyceridemia: a useful biochemical marker of fructose-1,6-bisphosphatase deficiency ↗

  European Journal of Pediatrics · 2013 · PMID 23881342
  not yet assessed
• Hematopoietic stem cell transplantation (HSCT) in nine patients with juvenile MLD ↗

  Neuropediatrics · 2013
  not yet assessed
• Stoffwechselerkrankungen ↗

  2013
  not yet assessed
• Suggested guidelines for the diagnosis and management of urea cycle disorders ↗

  Orphanet Journal of Rare Diseases · 2012 · PMID 22642880
  not yet assessed
• 3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals ↗

  Orphanet Journal of Rare Diseases · 2012 · PMID 22642865
  not yet assessed
• Glucose Transporter-1 (GLUT1) Deficiency Syndrome: Diagnosis and Treatment in Late Childhood ↗

  Neuropediatrics · 2012 · PMID 22622956
  not yet assessed
• Treatment of infantile Pompe s disease with enzyme replacement therapy in Germany and Austria ↗

  Neuropediatrics · 2012
  not yet assessed
• Fanconi-Bickel syndrome: a mild form associated with GLUT2 mutation

  Archivio istituzionale della ricerca (Alma Mater Studiorum Università di Bologna) · 2012
  not yet assessed
• Disorders of Fructose Metabolism ↗

  2011
  not yet assessed
• Propionic acidemia: neonatal versus selective metabolic screening ↗

  Journal of Inherited Metabolic Disease · 2011 · PMID 22134541
  not yet assessed
• Mutation analysis in 54 propionic acidemia patients ↗

  Journal of Inherited Metabolic Disease · 2011 · PMID 22033733
  not yet assessed
• Effect of kidney disease on glucose handling (including genetic defects) ↗

  Kidney International · 2011 · PMID 21358700
  not yet assessed
• Fanconi–Bickel syndrome: GLUT2 mutations associated with a mild phenotype ↗

  Molecular Genetics and Metabolism · 2011 · PMID 22214819
  not yet assessed
• A Child With Night Blindness ↗

  Journal of Child Neurology · 2011 · PMID 22156782
  not yet assessed
• Dried blood spots in the diagnosis of lysosomal storage disorders—Possibilities for newborn screening and high-risk population screening ↗

  Clinical Biochemistry · 2011 · PMID 22036333
  not yet assessed
• Successful pregnancy in the patient with Fanconi‐Bickel syndrome undergoing daily hemodialysis ↗

  American Journal of Medical Genetics Part A · 2011 · PMID 21739588
  not yet assessed
• Glyceroluria and Neonatal Hemochromatosis ↗

  Journal of Pediatric Gastroenterology and Nutrition · 2011 · PMID 21886008
  not yet assessed
• Fanconi–Bickel syndrome and fertility ↗

  American Journal of Medical Genetics Part A · 2011 · PMID 21910231
  not yet assessed
• Leitsymptomvorlesungen im klinischen Studienabschnitt - Effekte evaluationsbasierter Interventionen auf eine Großgruppen-Lehrveranstaltung ↗

  PubMed · 2011 · PMID 21818230
  not yet assessed
• Disorders of Glucose Transport ↗

  2011
  not yet assessed
• Leitsymptomvorlesungen im klinischen Studienabschnitt - Effekte evaluationsbasierter Interventionen auf eine Großgruppen-Lehrveranstaltung [Lectures based on cardinal symptoms in undergraduate medicine - effects of evaluation-based interventions on teaching large groups ]

  GMS. Zeitschrift für medizinische Ausbildung · 2011
  not yet assessed
• Tandem Mass Spectrometry Screening for Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: The Value of Second-Tier Enzyme Testing ↗

  The Journal of Pediatrics · 2010 · PMID 20547398
  not yet assessed
• Neonatal cholestasis and glucose‐6‐P‐dehydrogenase deficiency ↗

  Pediatric Blood & Cancer · 2010 · PMID 20052779
  not yet assessed
• Familial Renal Glucosuria and SGLT2 ↗

  Clinical Journal of the American Society of Nephrology · 2009 · PMID 19965550
  not yet assessed
• Treatment recommendations in long‐chain fatty acid oxidation defects: consensus from a workshop ↗

  Journal of Inherited Metabolic Disease · 2009 · PMID 19452263
  not yet assessed
• Management and outcome in 75 individuals with long‐chain fatty acid oxidation defects: results from a workshop ↗

  Journal of Inherited Metabolic Disease · 2009 · PMID 19399638
  not yet assessed
• Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children ↗

  Mitochondrion · 2009 · PMID 19666145
  not yet assessed
• Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes—possibility for newborn screening ↗

  Journal of Inherited Metabolic Disease · 2009 · PMID 20033296
  not yet assessed
• Phenylalanine tolerance in three phenylketonuric women pregnant with fetuses of different genetic PKU status ↗

  Journal of Inherited Metabolic Disease · 2009 · PMID 19194782
  not yet assessed
• Computer simulations suggest that acute correction of hyperglycaemia with an insulin bolus protocol might be useful in brain FDG PET ↗

  Nuklearmedizin - NuclearMedicine · 2009 · PMID 19212611
  not yet assessed
• Twenty-one additional cases of familial renal glucosuria: absence of genetic heterogeneity, high prevalence of private mutations and further evidence of volume depletion ↗

  Nephrology Dialysis Transplantation · 2008 · PMID 18622023
  not yet assessed
• Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome ↗

  Archives of Neurology · 2008 · PMID 18695062
  not yet assessed
• Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency ↗

  Molecular Genetics and Metabolism · 2008 · PMID 18440262
  not yet assessed
• Microarray‐based DNA methylation analysis of imprinted loci in a patient with transient neonatal diabetes mellitus ↗

  American Journal of Medical Genetics Part A · 2008 · PMID 19012334
  not yet assessed
• High concentrations of phenylalanine stimulate peroxisome proliferator-activated receptor γ: Implications for the pathophysiology of phenylketonuria ↗

  Neurobiology of Disease · 2008 · PMID 18755275
  not yet assessed
• Molecular genetic diagnosis of glycogen storage disease (GSD) type III: Experience from a large international cohort

  University of Groningen research database (University of Groningen / Centre for Information Technology) · 2008
  not yet assessed
• Long-term follow-up and outcome of patients with tetrahydrobiopterin deficiency ↗

  IRIS · 2008
  not yet assessed
• Stoffwechselerkrankungen ↗

  2008
  not yet assessed
• SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness ↗

  Brain · 2007 · PMID 17301081
  not yet assessed
• Glucose metabolism and insulin secretion in a patient with ABCC8 mutation and Fanconi–Bickel syndrome caused by maternal isodisomy of chromosome 3 ↗

  Clinical Genetics · 2007 · PMID 17539904
  not yet assessed
• High bone mineral density in pycnodysostotic patients with a novel mutation in the propeptide of cathepsin K ↗

  Osteoporosis International · 2007 · PMID 17206399
  not yet assessed
• Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency ↗

  Molecular Genetics and Metabolism · 2007 · PMID 18060820
  not yet assessed
• Elevated serum biotinidase activity in hepatic glycogen storage disorders–A convenient biomarker ↗

  Journal of Inherited Metabolic Disease · 2007 · PMID 17994282
  not yet assessed
• Glykogenspeicherkrankheiten ↗

  Pädiatrie · 2007
  not yet assessed
• Hepatocerebral Mitochondrial DNA Depletion Syndrome Caused by Deoxyguanosine Kinase (DGUOK) Mutations ↗

  Archives of Neurology · 2006 · PMID 16908739
  not yet assessed
• Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity ofMCCA andMCCB mutations and impact on risk assessment ↗

  Human Mutation · 2006 · PMID 16835865
  not yet assessed
• Elevated phenylalanine levels interfere with neurite outgrowth stimulated by the neuronal cell adhesion molecule L1 in vitro ↗

  FEBS Letters · 2006 · PMID 16716305
  not yet assessed
• Disorders of Fructose Metabolism ↗

  2006
  not yet assessed
• Bilateral nuclear cataracts as the first neonatal sign of Fanconi–Bickel syndrome ↗

  Journal of Inherited Metabolic Disease · 2006 · PMID 16906471
  not yet assessed
• Evaluation of electrospray‐tandem mass spectrometry for the detection of phenylketonuria and other rare disorders ↗

  Molecular Nutrition & Food Research · 2006 · PMID 16598811
  not yet assessed
• Disorders of Glucose Transport ↗

  2006
  not yet assessed
• Disorders of Glucose Transport ↗

  2006
  not yet assessed
• High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome ↗

  Human Mutation · 2005 · PMID 16287113
  not yet assessed
• The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe ↗

  Human Mutation · 2005 · PMID 15880727
  not yet assessed
• Elements of diabetic nephropathy in a patient with GLUT2 deficiency ↗

  Molecular Genetics and Metabolism · 2005 · PMID 16288895
  not yet assessed
• Decreased plasma concentration of von Willebrand factor antigen (VWF:Ag) in patients with glycogen storage disease type Ia ↗

  Journal of Inherited Metabolic Disease · 2005 · PMID 16435187
  not yet assessed
• Transiente neonatale Hyperammonämie – Schwierige Prognosestellung bei extrem hohen Ammoniakspiegeln im Neugeborenenalter ↗

  Zeitschrift für Geburtshilfe und Neonatologie · 2005
  not yet assessed
• Long-term outcome of renal glucosuria type 0: the original patient and his natural history ↗

  Nephrology Dialysis Transplantation · 2004 · PMID 15299100
  not yet assessed
• A Common Mutation Is Associated with a Mild, Potentially Asymptomatic Phenotype in Patients with Isovaleric Acidemia Diagnosed by Newborn Screening ↗

  The American Journal of Human Genetics · 2004 · PMID 15486829
  not yet assessed
• A novel mutation in the GLUT2 gene in a patient with Fanconi‐Bickel syndrome detected by neonatal screening for galactosaemia ↗

  Journal of Inherited Metabolic Disease · 2004 · PMID 15243984
  not yet assessed
• Urinary α-ketoglutarate is elevated in patients with hyperinsulinism-hyperammonemia syndrome ↗

  Clinica Chimica Acta · 2004 · PMID 14967154
  not yet assessed
• Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false‐positive newborn screening for biotinidase deficiency ↗

  Journal of Inherited Metabolic Disease · 2004 · PMID 15877202
  not yet assessed
• Metabolische Kardiomyopathien ↗

  Monatsschrift Kinderheilkunde · 2004
  not yet assessed
• Neugeborenenscreening mittels Tandemmassenspektrometrie (MS/MS) – Potenzial, Probleme und Perspektiven ↗

  Kinder- und Jugendmedizin · 2004
  not yet assessed
• The boy with massive glucosuria ↗

  Nephrology Dialysis Transplantation · 2004 · PMID 15102974
  not yet assessed
• A common mutation is associated wiath a novel phenotype among patients with isovaleric acidaemia (IVA) diagnosed by newborn screening (NBS)

  FreiDok plus (Universitätsbibliothek Freiburg) · 2004
  not yet assessed
• Molecular Analysis of the SGLT2 Gene in Patients with Renal Glucosuria ↗

  Journal of the American Society of Nephrology · 2003 · PMID 14569097
  not yet assessed
• von Willebrand factor cleaving protease and ADAMTS13mutations in childhood TTP ↗

  Blood · 2003 · PMID 12393505
  not yet assessed
• Intestinal glucose transport: Evidence for a membrane traffic–based pathway in humans ↗

  Gastroenterology · 2003 · PMID 12512027
  not yet assessed
• Tandem Mass Spectrometric Determination of Malonylcarnitine: Diagnosis and Neonatal Screening of Malonyl-CoA Decarboxylase Deficiency ↗

  Clinical Chemistry · 2003 · PMID 12651823
  not yet assessed
• Partial response to biotin therapy in a patient with holocarboxylase synthetase deficiency: clinical, biochemical, and molecular genetic aspects ↗

  Molecular Genetics and Metabolism · 2003 · PMID 12855220
  not yet assessed
• MLYCD mutation analysis: Evidence for protein mistargeting as a cause of MLYCD deficiency ↗

  Human Mutation · 2003 · PMID 12955715
  not yet assessed
• A genetic polymorphism in the coding region of the gastric intrinsic factor gene (GIF) is associated with congenital intrinsic factor deficiency ↗

  Human Mutation · 2003 · PMID 14695536
  not yet assessed
• Disorders of Glucose Transport ↗

  2003
  not yet assessed
• A Heterozigous Mutation of the Glucokinase Gene Associated to Permanent Neonatal Diabetes Mellitus (PNDM)

  Diabetes · 2003
  not yet assessed
• Fanconi-Bickel Syndrome - A Congenital Defect of Facilitative Glucose Transport ↗

  Current Molecular Medicine · 2002 · PMID 11949937
  not yet assessed
• Feeding Patterns in Breast-Fed and Formula-Fed Infants ↗

  Annals of Nutrition and Metabolism · 2002 · PMID 12464723
  not yet assessed
• Cardiolipin deficiency in x-linked cardioskeletal myopathy and neutropenia (barth syndrome, mim 302060): a study in cultured skin fibroblasts ↗

  The Journal of Pediatrics · 2002 · PMID 12410207
  not yet assessed
• Tetrahydrobiopterin Responsiveness in Phenylketonuria. Two New Cases and a Review of Molecular Genetic Findings ↗

  Journal of Inherited Metabolic Disease · 2002 · PMID 11999982
  not yet assessed
• A secondary respiratory chain defect in a patient with Fanconi–Bickel syndrome ↗

  Journal of Inherited Metabolic Disease · 2002 · PMID 12408187
  not yet assessed
• Subject Index Vol. 46, 2002 ↗

  Annals of Nutrition and Metabolism · 2002
  not yet assessed
• Acknowledgement to the 2002 Reviewers ↗

  Annals of Nutrition and Metabolism · 2002
  not yet assessed
• Author Index Vol. 46, 2002 ↗

  Annals of Nutrition and Metabolism · 2002
  not yet assessed
• The Official FENS Calendar ↗

  Annals of Nutrition and Metabolism · 2002
  not yet assessed
• The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome ↗

  Human Genetics · 2001 · PMID 11810292
  not yet assessed
• Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands ↗

  European Journal of Human Genetics · 2001 · PMID 11378828
  not yet assessed
• Hyperinsulinism in syndromal disorders ↗

  Acta Paediatrica · 2001 · PMID 11529530
  not yet assessed
• Molecular analysis in glycogen storage disease 1non-A: DHPLC detection of the highly prevalent exon 8 mutations of theG6PT1 gene in German patients ↗

  Human Mutation · 2000 · PMID 10923042
  not yet assessed
• Angeborene Störungen des Glukosetransports ↗

  Monatsschrift Kinderheilkunde · 2000
  not yet assessed
• Periorale Hauteffloreszenzen bei einem Säugling ↗

  Monatsschrift Kinderheilkunde · 2000
  not yet assessed
• Tubulointerstitial nephritis and uveitis in association with Epstein-Barr virus infection ↗

  Pediatric Nephrology · 1999 · PMID 10454786
  not yet assessed
• Treatment of hyperinsulinaemic hypoglycaemia with nifedipine ↗

  European Journal of Pediatrics · 1999 · PMID 10094438
  not yet assessed
• Effect of DDAVP on nocturnal enuresis in a patient with nephrogenic diabetes insipidus ↗

  Archives of Disease in Childhood · 1999 · PMID 10373137
  not yet assessed
• Celiac Disease and Selective IgA Deficiency in a Girl With Atypical Turner Syndrome ↗

  Journal of Pediatric Gastroenterology and Nutrition · 1999 · PMID 10067750
  not yet assessed
• Celiac Disease and Selective IgA Deficiency in a Girl With Atypical Turner Syndrome ↗

  Journal of Pediatric Gastroenterology and Nutrition · 1999
  not yet assessed
• Fanconi-Bickel syndrome - the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature ↗

  European Journal of Pediatrics · 1998 · PMID 9809815
  not yet assessed
• Fanconi–Bickel syndrome – A congenital defect of the liver‐type facilitative glucose transporter ↗

  Journal of Inherited Metabolic Disease · 1998 · PMID 9686354
  not yet assessed
• Further Evidence for a Dominant Form of Familial Persistent Hyperinsulinemic Hypoglycemia of Infancy: A Family with Documented Hyperinsulinemia in Two Generationsc ↗

  The Journal of Clinical Endocrinology & Metabolism · 1998
  not yet assessed
• Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome ↗

  Nature Genetics · 1997 · PMID 9354798
  not yet assessed
• A Survey of the Newborn Populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 Variant Allele with Haplotype Analysis at the Medium Chain Acyl-CoA ↗

  Pediatric Research · 1997 · PMID 9029639
  not yet assessed
• Fanconi‐Bickel syndrome presenting in neonatal screening for galactosaemia ↗

  Journal of Inherited Metabolic Disease · 1997 · PMID 9266402
  not yet assessed
• A Survey of the Newborn Populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey and Japan for the G985 Variant Allele with Haplotype Analysis at the Medium Chain Acyl-CoA Dehydrogenase Gene. Locus: Clinical and Evol.Con.

  Research at the University of Copenhagen (University of Copenhagen) · 1997
  not yet assessed
• Williams-Beuren Syndrome and Celiac Disease ↗

  Journal of Pediatric Gastroenterology and Nutrition · 1996 · PMID 8890095
  not yet assessed
• Williams‐Beuren Syndrome and Celiac Disease ↗

  Journal of Pediatric Gastroenterology and Nutrition · 1996
  not yet assessed
• A novel missense (E163G) mutation in the catalytic subunit of lipoprotein lipase causes familial chylomicronemia ↗

  Human Mutation · 1996 · PMID 8956052
  not yet assessed
• A novel missense (E163G) mutation in the catalytic subunit of lipoprotein lipase causes familial chylomicronemia ↗

  Human Mutation · 1996
  not yet assessed
• Decreased activity of respiratory‐chain enzymes in glutaric aciduria type II ↗

  Journal of Inherited Metabolic Disease · 1995 · PMID 7623447
  not yet assessed
• Discordance for hyperinsulinemic hypoglycemia in monozygotic twins ↗

  The Journal of Pediatrics · 1995 · PMID 7776078
  not yet assessed
• The prevalence of the G985 allele of medium-chain acyl-CoA dehydrogenase deficiency among sudden infant death victims and healthy newborns in northern Germany ↗

  European Journal of Pediatrics · 1995 · PMID 7671949
  not yet assessed
• Association of malonyl‐CoA decarboxylase deficiency and heterozygote state for haemoglobin C disease ↗

  Journal of Inherited Metabolic Disease · 1994 · PMID 7837777
  not yet assessed
• Population Screening for Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Analysis of Medium-Chain Fatty Acids and Acylglyeines in Blood Spots ↗

  Annals of Clinical Biochemistry International Journal of Laboratory Medicine · 1994 · PMID 8154855
  not yet assessed
• Ursodesoxycholic Acid ↗

  Journal of Pediatric Gastroenterology and Nutrition · 1994 · PMID 7877009
  not yet assessed
• Ursodesoxycholic Acid ↗

  Journal of Pediatric Gastroenterology and Nutrition · 1994
  not yet assessed
• Detection of inborn errors of fatty acid oxidation from acylcarnitine analysis of plasma and blood spots with the radioisotopic exchange-high-performance liquid chromatographic method ↗

  The Journal of Pediatrics · 1993 · PMID 8496747
  not yet assessed
• [Williams-Beuren syndrome in combination with celiac disease]. ↗

  PubMed · 1993 · PMID 8413335
  not yet assessed
• Isolated defect of peroxisomal β-oxidation in a 16-year-old patient ↗

  European Journal of Pediatrics · 1993 · PMID 8482286
  not yet assessed
• Computed tomography in superior mesenteric artery syndrome ↗

  Pediatric Radiology · 1991 · PMID 2027727
  not yet assessed
• Celiac Disease in Downʼs Syndrome ↗

  Journal of Pediatric Gastroenterology and Nutrition · 1991 · PMID 1833522
  not yet assessed
• Celiac Disease in Down's Syndrome ↗

  Journal of Pediatric Gastroenterology and Nutrition · 1991
  not yet assessed
• Kinetics of the multi-step catalytic degradation of a polymer to its constituent subunits ↗

  Computers and Biomedical Research · 1991 · PMID 1868691
  not yet assessed
• Medium-chain acyl CoA dehydrogenase deficiency: Electron microscopic differentiation from Reye syndrome ↗

  European Journal of Pediatrics · 1990 · PMID 2279505
  not yet assessed
• Effect of Thyroxine on the Maturation of Cholecystokinin (CCK) Receptors in Pancreatic Acini of Neonatal Rats ↗

  Pancreas · 1990 · PMID 1690421
  not yet assessed
• The role of carbohydrate moieties of cholecystokinin receptors in cholecystokinin octapeptide binding: Alteration of binding data by specific lectins ↗

  Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · 1990 · PMID 2297543
  not yet assessed
• Response of exocrine pancreas to corticosterone and aldosterone after adrenalectomy ↗

  Journal of Steroid Biochemistry · 1989 · PMID 2482389
  not yet assessed