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The Journal of Pediatrics
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February 13, 2021
Health Outcomes of Infants with Vitamin B<sub>12</sub> Deficiency Identified by Newborn Screening and Early Treated
Ulrike Mütze, Magdalena Walter, Mareike Keller, et al.
Journal of Inherited Metabolic Disease
|
December 9, 2015
Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options
Christian Staufner, Martin Lindner, Carlo Dionisi-Vici, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
March 8, 2017
Attempt to Determine the Prevalence of Two Inborn Errors of Primary Bile Acid Synthesis: Results of a European Survey
Jörg Jahnel, Evelyn Zöhrer, Björn Fischler, et al.
Clinical Genetics
|
August 2, 2022
Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non-syndromic retinitis pigmentosa
Anna Dvaladze, Erika Tavares, Matteo Di Scipio, et al.
Journal of Inherited Metabolic Disease
|
December 16, 2024
Diagnosis, treatment, management and monitoring of patients with tyrosinaemia type 1: Consensus group recommendations from the German-speaking countries
Anibh M Das, Diana Ballhausen, Dorothea Haas, et al.
Neurology
|
October 23, 2020
Phenylalanine Effects on Brain Function in Adult Phenylketonuria
Andrea Pilotto, Carl M Zipser, Edytha Leks, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 28, 2026
Diagnostic delay in inherited metabolic diseases: Insights from the U-IMD registry
Julian Teinert, Florian Gleich, Viktor Kozich, et al.
Annals of Clinical and Translational Neurology
|
January 24, 2024
Neurological outcome in long-chain hydroxy fatty acid oxidation disorders
Ulrike Mütze, Alina Ottenberger, Florian Gleich, et al.
Molecular Genetics and Metabolism
|
May 11, 2024
Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b
Sarah C Grünert, Matthias Gautschi, Joshua Baker, et al.
American Journal of Human Genetics
|
May 15, 2018
Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy
Arcangela Iuso, Marit Wiersma, Hans-Joachim Schüller, et al.
Page
of 7
Search research articles
Search
Showing results (51-60 of 63) with videos related to
Sort By:
Page
of 7
The Journal of Pediatrics
|
February 13, 2021
Health Outcomes of Infants with Vitamin B<sub>12</sub> Deficiency Identified by Newborn Screening and Early Treated
Ulrike Mütze, Magdalena Walter, Mareike Keller, et al.
Journal of Inherited Metabolic Disease
|
December 9, 2015
Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options
Christian Staufner, Martin Lindner, Carlo Dionisi-Vici, et al.
Journal of Pediatric Gastroenterology and Nutrition
|
March 8, 2017
Attempt to Determine the Prevalence of Two Inborn Errors of Primary Bile Acid Synthesis: Results of a European Survey
Jörg Jahnel, Evelyn Zöhrer, Björn Fischler, et al.
Clinical Genetics
|
August 2, 2022
Deep intronic variant in MVK as a cause for mevalonic aciduria initially presenting as non-syndromic retinitis pigmentosa
Anna Dvaladze, Erika Tavares, Matteo Di Scipio, et al.
Journal of Inherited Metabolic Disease
|
December 16, 2024
Diagnosis, treatment, management and monitoring of patients with tyrosinaemia type 1: Consensus group recommendations from the German-speaking countries
Anibh M Das, Diana Ballhausen, Dorothea Haas, et al.
Neurology
|
October 23, 2020
Phenylalanine Effects on Brain Function in Adult Phenylketonuria
Andrea Pilotto, Carl M Zipser, Edytha Leks, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
March 28, 2026
Diagnostic delay in inherited metabolic diseases: Insights from the U-IMD registry
Julian Teinert, Florian Gleich, Viktor Kozich, et al.
Annals of Clinical and Translational Neurology
|
January 24, 2024
Neurological outcome in long-chain hydroxy fatty acid oxidation disorders
Ulrike Mütze, Alina Ottenberger, Florian Gleich, et al.
Molecular Genetics and Metabolism
|
May 11, 2024
Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b
Sarah C Grünert, Matthias Gautschi, Joshua Baker, et al.
American Journal of Human Genetics
|
May 15, 2018
Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy
Arcangela Iuso, Marit Wiersma, Hans-Joachim Schüller, et al.
Page
of 7