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Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

Genetics in medicine, 2014-11, Vol.16 (11), p.e1-e1

2014

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Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes

Molecular genetics and metabolism, 2019-01, Vol.126 (1), p.53-63

2019

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Misdiagnosis of Total Parental Nutrition-Related Riboflavin Deficiency: Three Case Reports of Diagnostic Error

American journal of perinatology reports, 2023-01, Vol.13 (1), p.e11-e16

2023

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A Homozygous Mutation in KCTD7 Links Neuronal Ceroid Lipofuscinosis to the Ubiquitin-Proteasome System

American journal of human genetics, 2012-07, Vol.91 (1), p.202-208

2012

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ECHS1 disease in two unrelated families of Samoan descent: Common variant ‐ rare disorder

American journal of medical genetics. Part A, 2021-01, Vol.185 (1), p.157-167

2021

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Leukoencephalopathy with Brain stem and Spinal cord involvement and Lactate elevation (LBSL): Report of a new family and a novel DARS2 mutation

Molecular genetics and metabolism reports, 2024-03, Vol.38, p.101025-101025, Article 101025

2024

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Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening

Molecular genetics and metabolism, 2014-04, Vol.111 (4), p.484-492

2014

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Effects of hematopoietic stem cell transplantation on acyl-CoA oxidase deficiency: a sibling comparison study

Journal of inherited metabolic disease, 2014-09, Vol.37 (5), p.791-799

2014

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Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion

Molecular genetics and metabolism, 2016-09, Vol.119 (1-2), p.91-99

2016

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Initial experience in the treatment of inherited mitochondrial disease with EPI-743

Molecular genetics and metabolism, 2012-01, Vol.105 (1), p.91-102

2012

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Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan

American journal of human genetics, 2013-07, Vol.93 (1), p.29-41

2013

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The biochemical profile and dietary management in S-adenosylhomocysteine hydrolase deficiency

Molecular genetics and metabolism reports, 2022-09, Vol.32, p.100885, Article 100885

2022

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Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy

Molecular genetics and metabolism, 2022-04, Vol.135 (4), p.350-356

2022

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Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation

Neuromuscular disorders : NMD, 2009-05, Vol.19 (5), p.352-356

2009

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Reduction in newborn screening metabolic false-positive results following a new collection protocol

Genetics in medicine, 2014-06, Vol.16 (6), p.477-483

2014

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Clinical, biochemical and molecular characteristics of malonyl-CoA decarboxylase deficiency and long-term follow-up of nine patients

Molecular genetics and metabolism, 2019-09, Vol.128 (1-2), p.113-121

2019

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Mitochondrial Complex III Deficiency Caused by a Homozygous UQCRC2 Mutation Presenting with Neonatal-Onset Recurrent Metabolic Decompensation

Human mutation, 2013-03, Vol.34 (3), p.446-452

2013

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Molecular and clinical genetics of mitochondrial diseases due to POLG mutations

Human mutation, 2008-09, Vol.29 (9), p.E150-E172

2008

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Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease

Molecular genetics and metabolism, 2015-08, Vol.115 (4), p.161-167

2015

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Tetrahydrobiopterin: Beyond Its Traditional Role as a Cofactor

Antioxidants, 2023-05, Vol.12 (5), p.1037

2023

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ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

Human mutation, 2016-07, Vol.37 (7), p.653-660

2016

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Prevention of metabolic decompensation in an infant with mutase deficient methylmalonic aciduria undergoing cardiopulmonary bypass

World journal of pediatrics : WJP, 2014-02, Vol.10 (1), p.83-85

2014

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Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

Novel mutations in the mitochondrial complex I assembly gene NDUFAF5 reveal heterogeneous phenotypes

Misdiagnosis of Total Parental Nutrition-Related Riboflavin Deficiency: Three Case Reports of Diagnostic Error

A Homozygous Mutation in KCTD7 Links Neuronal Ceroid Lipofuscinosis to the Ubiquitin-Proteasome System

ECHS1 disease in two unrelated families of Samoan descent: Common variant ‐ rare disorder

Leukoencephalopathy with Brain stem and Spinal cord involvement and Lactate elevation (LBSL): Report of a new family and a novel DARS2 mutation

Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening

Effects of hematopoietic stem cell transplantation on acyl-CoA oxidase deficiency: a sibling comparison study

Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion

Initial experience in the treatment of inherited mitochondrial disease with EPI-743

Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan

The biochemical profile and dietary management in S-adenosylhomocysteine hydrolase deficiency

Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy

Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy

Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation

Reduction in newborn screening metabolic false-positive results following a new collection protocol

Clinical, biochemical and molecular characteristics of malonyl-CoA decarboxylase deficiency and long-term follow-up of nine patients

Mitochondrial Complex III Deficiency Caused by a Homozygous UQCRC2 Mutation Presenting with Neonatal-Onset Recurrent Metabolic Decompensation

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations

Sepiapterin reductase deficiency: A Treatable Mimic of Cerebral Palsy

Successful diagnosis of HIBCH deficiency from exome sequencing and positive retrospective analysis of newborn screening cards in two siblings presenting with Leigh's disease

Tetrahydrobiopterin: Beyond Its Traditional Role as a Cofactor

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

Prevention of metabolic decompensation in an infant with mutase deficient methylmalonic aciduria undergoing cardiopulmonary bypass

Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations

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