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Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study

The Lancet (British edition), 2015-11, Vol.386 (10007), p.1955-1963

2015

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Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients

International journal of molecular sciences, 2018-03, Vol.19 (4), p.1010

2018

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Long-term use of investigational β-Hydroxybutyrate salts in children with multiple acyl-CoA dehydrogenase or pyruvate dehydrogenase deficiency

Molecular genetics and metabolism reports, 2024-09, Vol.40, p.101104, Article 101104

2024

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Osmotic regulation of hepatic betaine metabolism

American journal of physiology: Gastrointestinal and liver physiology, 2013-05, Vol.304 (9), p.G835-G846

2013

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Molybdenum cofactor deficiency: A natural history

Journal of inherited metabolic disease, 2022-05, Vol.45 (3), p.456-469

2022

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Infertility in 5,10-Methylenetetrahydrofolate Reductase (MTHFR)-Deficient Male Mice Is Partially Alleviated by Lifetime Dietary Betaine Supplementation

Biology of reproduction, 2005-03, Vol.72 (3), p.667-677

2005

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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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Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies

Journal of inherited metabolic disease, 2024-07, Vol.47 (4), p.598-623

2024

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cPMP rescue of a neonate with severe molybdenum cofactor deficiency after serendipitous early diagnosis, and characterisation of a novel MOCS1 variant

Molecular genetics and metabolism, 2024-12, Vol.143 (4), p.108598, Article 108598

2024

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Clinical presentation and outcome in a series of 88 patients with the cblC defect

Journal of inherited metabolic disease, 2014-09, Vol.37 (5), p.831-840

2014

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Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing

Archives of disease in childhood, 2017-11, Vol.102 (11), p.1019-1029

2017

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Severe methylenetetrahydrofolate reductase deficiency: clinical clues to a potentially treatable cause of adult-onset hereditary spastic paraplegia

JAMA neurology, 2014-07, Vol.71 (7), p.901

2014

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Betaine rescue of an animal model with methylenetetrahydrofolate reductase deficiency

Biochemical journal, 2004-09, Vol.382 (3), p.831

2004

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Central precocious puberty in a 3 year-old girl with Phenylketonuria: a rare association?

BMC endocrine disorders, 2014-04, Vol.14 (1), p.38-38, Article 38

2014

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Biochemical efficacy of N-carbamylglutamate in neonatal severe hyperammonaemia due to propionic acidaemia

European journal of pediatrics, 2010, Vol.169 (1), p.133-134

2010

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Expanded newborn screening identifies maternal primary carnitine deficiency

Molecular genetics and metabolism, 2007-04, Vol.90 (4), p.441-445

2007

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Homocysteine‐betaine interactions in a murine model of 5,10‐methylenetetrahydrofolate reductase deficiency

The FASEB journal, 2003-03, Vol.17 (3), p.1-25

2003

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Pharmacokinetics of oral betaine in healthy subjects and patients with homocystinuria

British journal of clinical pharmacology, 2003-01, Vol.55 (1), p.6-13

2003

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Betaine rescue of an animal model with methylenetetrahydrofolate reductase deficiency

Biochemical journal, 2004-09, Vol.382 (Pt 3), p.831-840

2004

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Timing of Cerebral Developmental Disruption in Molybdenum Cofactor Deficiency

Journal of Child Neurology, 2011-08, Vol.26 (8), p.1059-1060

2011

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Osmotic regulation of betaine homocysteine-S-methyltransferase expression in H4IIE rat hepatoma cells

American journal of physiology: Gastrointestinal and liver physiology, 2007-04, Vol.292 (4), p.G1089-G1098

2007

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Postnatal cerebellar defects in mice deficient in methylenetetrahydrofolate reductase

International journal of developmental neuroscience, 2005-08, Vol.23 (5), p.465-474

2005

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Effects of betaine in a murine model of mild cystathionine-β-synthase deficiency

Metabolism, clinical and experimental, 2004-05, Vol.53 (5), p.594-599

2004

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MaP NATURAL HISTORY STUDY: CLINICAL AND BIOMARKER FINDINGS IN METHYLMALONIC ACIDEMIA DUE TO MUT DEFICIENCY

Molecular genetics and metabolism, 2023-03, Vol.138 (3), p.107475, Article 107475

2023

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Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study

Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients

Long-term use of investigational β-Hydroxybutyrate salts in children with multiple acyl-CoA dehydrogenase or pyruvate dehydrogenase deficiency

Osmotic regulation of hepatic betaine metabolism

Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis

Molybdenum cofactor deficiency: A natural history

Infertility in 5,10-Methylenetetrahydrofolate Reductase (MTHFR)-Deficient Male Mice Is Partially Alleviated by Lifetime Dietary Betaine Supplementation

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

Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies

cPMP rescue of a neonate with severe molybdenum cofactor deficiency after serendipitous early diagnosis, and characterisation of a novel MOCS1 variant

Clinical presentation and outcome in a series of 88 patients with the cblC defect

Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing

Severe methylenetetrahydrofolate reductase deficiency: clinical clues to a potentially treatable cause of adult-onset hereditary spastic paraplegia

Betaine rescue of an animal model with methylenetetrahydrofolate reductase deficiency

Central precocious puberty in a 3 year-old girl with Phenylketonuria: a rare association?

Biochemical efficacy of N-carbamylglutamate in neonatal severe hyperammonaemia due to propionic acidaemia

Expanded newborn screening identifies maternal primary carnitine deficiency

Homocysteine‐betaine interactions in a murine model of 5,10‐methylenetetrahydrofolate reductase deficiency

Pharmacokinetics of oral betaine in healthy subjects and patients with homocystinuria

Betaine rescue of an animal model with methylenetetrahydrofolate reductase deficiency

Timing of Cerebral Developmental Disruption in Molybdenum Cofactor Deficiency

Osmotic regulation of betaine homocysteine-S-methyltransferase expression in H4IIE rat hepatoma cells

Postnatal cerebellar defects in mice deficient in methylenetetrahydrofolate reductase

Effects of betaine in a murine model of mild cystathionine-β-synthase deficiency

MaP NATURAL HISTORY STUDY: CLINICAL AND BIOMARKER FINDINGS IN METHYLMALONIC ACIDEMIA DUE TO MUT DEFICIENCY

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