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Challenges of managing ornithine transcarbamylase deficiency in female heterozygotes

Molecular genetics and metabolism reports, 2022-12, Vol.33 (Suppl 1), p.100941-100941, Article 100941

Feigenbaum, Annette

2022

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A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome

American journal of human genetics, 2015-02, Vol.96 (2), p.275-282

2015

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Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study

The Lancet (British edition), 2007-08, Vol.370 (9586), p.504-510

2007

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Considerations for prenatal and postpartum management of a female patient with ornithine transcarbamylase deficiency

Molecular genetics and metabolism reports, 2022-12, Vol.33 (Suppl 1), p.100894-100894, Article 100894

2022

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P470: A novel inherited frameshifting variant in UBA2 gene: A case study of highly variable phenotype in a family

Genetics in Medicine Open, 2024, Vol.2, p.101364

2024

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Characterization of a novel exonic deletion in the GALNS gene causing Morquio A syndrome

Molecular genetics and metabolism reports, 2022-12, Vol.33, p.100920, Article 100920

2022

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IDH2 Mutations in Patients with D-2-Hydroxyglutaric Aciduria

Science (American Association for the Advancement of Science), 2010-10, Vol.330 (6002), p.336-336

2010

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MELAS syndrome, cardiomyopathy, rhabdomyolysis, and autism associated with the A3260G mitochondrial DNA mutation

Biochemical and biophysical research communications, 2010-11, Vol.402 (2), p.443-447

2010

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Aicardi‐Goutières syndrome may present with positive newborn screen for X‐linked adrenoleukodystrophy

American journal of medical genetics. Part A, 2021-06, Vol.185 (6), p.1848-1853

2021

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Rolandic Mitochondrial Encephalomyelopathy and MT-ND3 Mutations

Pediatric neurology, 2009-07, Vol.41 (1), p.27-33

2009

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P687: Variant classification discrepancies in the ACADVL gene

Genetics in Medicine Open, 2024, Vol.2, p.101591

2024

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P007: PP4 criteria specifications for proximal urea cycle disorders

Genetics in Medicine Open, 2024, Vol.2, p.100884

2024

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Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia

Molecular genetics and metabolism reports, 2021-06, Vol.27, p.100735-100735, Article 100735

2021

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P584: Dual diagnosis of maple syrup urine disease 1B and 6q14.1 deletion in an individual with neurodevelopmental and metabolic phenotypes

Genetics in Medicine Open, 2023, Vol.1 (1), p.100631, Article 100631

2023

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Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence

JIMD reports, 2020-03, Vol.52 (1), p.3-10

2020

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Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium

Molecular genetics and metabolism, 2010, Vol.100 (Suppl 1), p.S97-S105

2010

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Mitochondrial DNA depletion and dGK gene mutations

Annals of neurology, 2002-09, Vol.52 (3), p.311-317

2002

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Stepwise Developmental Regression Associated With Novel CACNA1A Mutation

Pediatric neurology, 2008-11, Vol.39 (5), p.363-364

2008

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Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme

Journal of lipid research, 2001-07, Vol.42 (7), p.1134-1142

2001

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Late‐onset cobalamin‐C disorder: A challenging diagnosis

American journal of medical genetics. Part A, 2007-05, Vol.143A (9), p.979-984

2007

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eP009: Identification of a novel exonic deletion in the GALNS gene causing Morquio syndrome

Genetics in medicine, 2022-03, Vol.24 (3), p.S5-S6

2022

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Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type

Journal of AAPOS, 2008-12, Vol.12 (6), p.591-596

2008

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An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm

American journal of human genetics, 2020-11, Vol.107 (5), p.942-952

2020

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Challenges of managing ornithine transcarbamylase deficiency in female heterozygotes

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome

Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study

Considerations for prenatal and postpartum management of a female patient with ornithine transcarbamylase deficiency

P470: A novel inherited frameshifting variant in UBA2 gene: A case study of highly variable phenotype in a family

Characterization of a novel exonic deletion in the GALNS gene causing Morquio A syndrome

IDH2 Mutations in Patients with D-2-Hydroxyglutaric Aciduria

MELAS syndrome, cardiomyopathy, rhabdomyolysis, and autism associated with the A3260G mitochondrial DNA mutation

Aicardi‐Goutières syndrome may present with positive newborn screen for X‐linked adrenoleukodystrophy

Rolandic Mitochondrial Encephalomyelopathy and MT-ND3 Mutations

P687: Variant classification discrepancies in the ACADVL gene

P007: PP4 criteria specifications for proximal urea cycle disorders

Arginine to ornithine ratio as a diagnostic marker in patients with positive newborn screening for hyperargininemia

Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada

P584: Dual diagnosis of maple syrup urine disease 1B and 6q14.1 deletion in an individual with neurodevelopmental and metabolic phenotypes

Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence

Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium

Mitochondrial DNA depletion and dGK gene mutations

Stepwise Developmental Regression Associated With Novel CACNA1A Mutation

Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme

Late‐onset cobalamin‐C disorder: A challenging diagnosis

eP009: Identification of a novel exonic deletion in the GALNS gene causing Morquio syndrome

Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type

An RCT of Rapid Genomic Sequencing among Seriously Ill Infants Results in High Clinical Utility, Changes in Management, and Low Perceived Harm

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