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American Journal of Human Genetics
|
March 27, 2018
Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies
Thatjana Gardeitchik, Miski Mohamed, Benedetta Ruzzenente, et al.
Journal of Inherited Metabolic Disease
|
June 12, 2016
ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies
Eva Morava, Vera Tiemes, Christian Thiel, et al.
JCI Insight
|
December 21, 2018
Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function
Xiao-Yan Wen, Maja Tarailo-Graovac, Koroboshka Brand-Arzamendi, et al.
International Journal of Neonatal Screening
|
October 24, 2023
A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening
Abigail Veldman, M B Gea Kiewiet, Dineke Westra, et al.
Molecular Genetics and Metabolism
|
January 15, 2018
The genotypic and phenotypic spectrum of MTO1 deficiency
James J O'Byrne, Maja Tarailo-Graovac, Aisha Ghani, et al.
Nature Communications
|
May 28, 2016
ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation
Eric J R Jansen, Sharita Timal, Margret Ryan, et al.
Brain : a Journal of Neurology
|
May 1, 2010
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis
Michèl A Willemsen, Marcel M Verbeek, Erik-Jan Kamsteeg, et al.
Metabolites
|
July 27, 2022
Preanalytical Pitfalls in Untargeted Plasma Nuclear Magnetic Resonance Metabolomics of Endocrine Hypertension
Nikolaos G Bliziotis, Leo A J Kluijtmans, Gerjen H Tinnevelt, et al.
Neurology. Genetics
|
April 15, 2024
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic <i>HK1</i> Variants
Saskia B Wortmann, Rene G Feichtinger, Lucia Abela, et al.
The Journal of Clinical Investigation
|
June 17, 2021
Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy
Udo Fh Engelke, Rianne E van Outersterp, Jona Merx, et al.
Page
of 49
Search research articles
Search
Showing results (461-470 of 483) with videos related to
Sort By:
Page
of 49
American Journal of Human Genetics
|
March 27, 2018
Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies
Thatjana Gardeitchik, Miski Mohamed, Benedetta Ruzzenente, et al.
Journal of Inherited Metabolic Disease
|
June 12, 2016
ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies
Eva Morava, Vera Tiemes, Christian Thiel, et al.
JCI Insight
|
December 21, 2018
Sialic acid catabolism by N-acetylneuraminate pyruvate lyase is essential for muscle function
Xiao-Yan Wen, Maja Tarailo-Graovac, Koroboshka Brand-Arzamendi, et al.
International Journal of Neonatal Screening
|
October 24, 2023
A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening
Abigail Veldman, M B Gea Kiewiet, Dineke Westra, et al.
Molecular Genetics and Metabolism
|
January 15, 2018
The genotypic and phenotypic spectrum of MTO1 deficiency
James J O'Byrne, Maja Tarailo-Graovac, Aisha Ghani, et al.
Nature Communications
|
May 28, 2016
ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation
Eric J R Jansen, Sharita Timal, Margret Ryan, et al.
Brain : a Journal of Neurology
|
May 1, 2010
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis
Michèl A Willemsen, Marcel M Verbeek, Erik-Jan Kamsteeg, et al.
Metabolites
|
July 27, 2022
Preanalytical Pitfalls in Untargeted Plasma Nuclear Magnetic Resonance Metabolomics of Endocrine Hypertension
Nikolaos G Bliziotis, Leo A J Kluijtmans, Gerjen H Tinnevelt, et al.
Neurology. Genetics
|
April 15, 2024
Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic <i>HK1</i> Variants
Saskia B Wortmann, Rene G Feichtinger, Lucia Abela, et al.
The Journal of Clinical Investigation
|
June 17, 2021
Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy
Udo Fh Engelke, Rianne E van Outersterp, Jona Merx, et al.
Page
of 49