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Diagnostic Accuracy of Blood Lactate-to-Pyruvate Molar Ratio in the Differential Diagnosis of Congenital Lactic Acidosis

Clinical chemistry (Baltimore, Md.), 2007-05, Vol.53 (5), p.916-921

2007

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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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LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency

Journal of medical genetics, 2011-03, Vol.48 (3), p.183-189

2011

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Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases

Pediatrics (Evanston), 2007-04, Vol.119 (4), p.722

2007

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Identification of a novel mutation in GYS1 (muscle-specific glycogen synthase) resulting in sudden cardiac death, that is diagnosable from skin fibroblasts

Molecular genetics and metabolism, 2009-12, Vol.98 (4), p.378-382

2009

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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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Human cytochrome oxidase deficiency

Pediatric research, 2000-11, Vol.48 (5), p.581-585

ROBINSON, Brian H

2000

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Pyruvate Dehydrogenase Phosphatase Deficiency: Identification of the First Mutation in Two Brothers and Restoration of Activity by Protein Complementation

The journal of clinical endocrinology and metabolism, 2005-07, Vol.90 (7), p.4101-4107

2005

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Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA

American journal of medical genetics. Part A, 2007-04, Vol.143A (8), p.808-816

2007

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Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity

American journal of medical genetics. Part A, 2006-07, Vol.140A (14), p.1542-1552

2006

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A Bovine Albumin Peptide as a Possible Trigger of Insulin-Dependent Diabetes Mellitus

The New England journal of medicine, 1992-07, Vol.327 (5), p.302-307

1992

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Intermittent peripheral weakness as the presenting feature of pyruvate dehydrogenase deficiency

European journal of pediatrics, 2006-07, Vol.165 (7), p.462-466

2006

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Novel mitochondrial DNA mutations associated with myopathy, cardiomyopathy, renal failure, and deafness

American journal of medical genetics. Part A, 2006-10, Vol.140A (20), p.2216-2222

2006

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The effect of short-term dimethylglycine treatment on oxygen consumption in cytochrome oxidase deficiency: A double-blind randomized crossover clinical trial

The Journal of pediatrics, 2003-01, Vol.142 (1), p.62-66

2003

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Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA(glycine) gene

American journal of human genetics, 1994-09, Vol.55 (3), p.437-446

1994

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Mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes (MELAS): Clinical, radiological, pathological, and genetic observations

Annals of neurology, 1993-07, Vol.34 (1), p.25-32

1993

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Clinical, metabolic, and genetic aspects of cytochrome C oxidase deficiency in Saguenay-Lac-Saint-Jean

American journal of human genetics, 1993-08, Vol.53 (2), p.488-496

1993

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Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1alpha subunit

American journal of medical genetics. Part A, 2004-11, Vol.131 (1), p.59-66

2004

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Stroke-like episodes in autosomal recessive cytochrome oxidase deficiency

Annals of neurology, 1999-03, Vol.45 (3), p.389-392

1999

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Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complex

The Journal of pediatrics, 1987-10, Vol.111 (4), p.525-533

1987

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Detection of a Homozygous Four Base Pair Deletion in the Protein X Gene in a Case of Pyruvate Dehydrogenase Complex Deficiency

Human molecular genetics, 1998-03, Vol.7 (3), p.501-505

1998

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Mutations in the X-linked E1α subunit of pyruvate dehydrogenase leading to deficiency of the pyruvate dehydrogenase complex

Human molecular genetics, 1993-04, Vol.2 (4), p.449-454

1993

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Mutations in the X-linked E1α subunit of pyruvate dehydrogenase : exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex

American journal of human genetics, 1995-03, Vol.56 (3), p.558-569

1995

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Deficient activity of hepatic pyruvate dehydrogenase and pyruvate carboxylase in Reye's syndrome

Pediatric research, 1977-04, Vol.11 (4), p.279-281

1977

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Diagnostic Accuracy of Blood Lactate-to-Pyruvate Molar Ratio in the Differential Diagnosis of Congenital Lactic Acidosis

Variant non-ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5

Rolandic Mitochondrial Encephalomyelopathy and MT-ND3 Mutations

LRPPRC mutations cause a phenotypically distinct form of Leigh syndrome with cytochrome c oxidase deficiency

Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases

Identification of a novel mutation in GYS1 (muscle-specific glycogen synthase) resulting in sudden cardiac death, that is diagnosable from skin fibroblasts

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

Human cytochrome oxidase deficiency

Pyruvate Dehydrogenase Phosphatase Deficiency: Identification of the First Mutation in Two Brothers and Restoration of Activity by Protein Complementation

Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA

Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity

A Bovine Albumin Peptide as a Possible Trigger of Insulin-Dependent Diabetes Mellitus

Intermittent peripheral weakness as the presenting feature of pyruvate dehydrogenase deficiency

Novel mitochondrial DNA mutations associated with myopathy, cardiomyopathy, renal failure, and deafness

The effect of short-term dimethylglycine treatment on oxygen consumption in cytochrome oxidase deficiency: A double-blind randomized crossover clinical trial

Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA(glycine) gene

Mitochondrial encephalomyopathy, lactic acidosis, stroke-like episodes (MELAS): Clinical, radiological, pathological, and genetic observations

Clinical, metabolic, and genetic aspects of cytochrome C oxidase deficiency in Saguenay-Lac-Saint-Jean

Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1alpha subunit

Stroke-like episodes in autosomal recessive cytochrome oxidase deficiency

Variable clinical presentation in patients with defective E1 component of pyruvate dehydrogenase complex

Detection of a Homozygous Four Base Pair Deletion in the Protein X Gene in a Case of Pyruvate Dehydrogenase Complex Deficiency

Mutations in the X-linked E1α subunit of pyruvate dehydrogenase leading to deficiency of the pyruvate dehydrogenase complex

Mutations in the X-linked E1α subunit of pyruvate dehydrogenase : exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex

Deficient activity of hepatic pyruvate dehydrogenase and pyruvate carboxylase in Reye's syndrome

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