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2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency Is Caused by Mutations in the HADH2 Gene

American journal of human genetics, 2003-05, Vol.72 (5), p.1300-1307

2003

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2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency : An X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease

Pediatric research, 2005-09, Vol.58 (3), p.488-491

2005

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Abnormal myelin formation in rhizomelic chondrodysplasia punctata type 2 (DHAPAT-deficiency)

Developmental medicine and child neurology, 2000-07, Vol.42 (7), p.492-495, Article S0012162200000918

2000

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Acyl-CoA: dihydroxyacetone phosphate acyltransferase in human skin fibroblasts: study of its properties using a new assay method

Biochimica et biophysica acta, 1986-12, Vol.879 (3), p.286-291

1986

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Acyl-CoA: Dihydroxyacetonephosphate Acyltransferase: Cloning of the Human cDNA and Resolution of the Molecular Basis in Rhizomelic Chondrodysplasia Punctata Type 2

Human molecular genetics, 1998-05, Vol.7 (5), p.847-853

1998

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Aspirin Use and Risk of Atrial Fibrillation in the Physicians' Health Study

Journal of the American Heart Association, 2014-06, Vol.3 (4), p.n/a

2014

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Autophagy Inhibitors Do Not Restore Peroxisomal Functions in Cells With the Most Common Peroxisome Biogenesis Defect

Frontiers in cell and developmental biology, 2021-04, Vol.9, p.661298-661298

2021

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Carnitine Biosynthesis: Identification of the cDNA Encoding Human γ-Butyrobetaine Hydroxylase

Biochemical and biophysical research communications, 1998-09, Vol.250 (2), p.506-510

1998

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Carnitine biosynthesis. Purification of gamma-butyrobetaine hydroxylase from rat liver

Advances in experimental medicine and biology, 1999, Vol.466, p.117

1999

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Carnitine palmitoyltransferase II specificity towards beta-oxidation intermediates--evidence for a reverse carnitine cycle in mitochondria

European journal of biochemistry, 1998-05, Vol.253 (3), p.614-618

1998

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Cholesterol-deprivation increases mono-unsaturated very long-chain fatty acids in skin fibroblasts from patients with X-linked adrenoleukodystrophy

Biochimica et biophysica acta, 2008-03, Vol.1781 (3), p.105-111

2008

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Clinical and economic assessment of the omeprazole test in patients with symptoms suggestive of gastroesophageal reflux disease

Archives of internal medicine (1960), 1999-10, Vol.159 (18), p.2161

1999

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The clinical and economic impact of competing management strategies for gastro‐oesophageal reflux disease

Alimentary pharmacology & therapeutics, 2002-02, Vol.16 (2), p.261-273

2002

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The clinical and economic value of a short course of omeprazole in patients with noncardiac chest pain

Gastroenterology (New York, N.Y. 1943), 1998-07, Vol.115 (1), p.42-49

1998

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Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria

Molecular genetics and metabolism, 2006-03, Vol.87 (3), p.243-248

2006

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Clinical economics review : nutritional support

Alimentary pharmacology & therapeutics, 1997-06, Vol.11 (3), p.453-471

1997

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Clinical utility of serodiagnostic testing in suspected pediatric inflammatory bowel disease

The American journal of gastroenterology, 2001-03, Vol.96 (3), p.758-765

2001

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Clinical utility of serodiagnostic testing in suspected pediatric inflammatory bowel disease

The American journal of gastroenterology, 2001, Vol.96 (3), p.758-765

2001

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Comment on: Nonlinear studies of coronal heating by the resonant absorption of Alfvén waves. Authors' reply

Geophysical research letters, 1995, Vol.22 (19), p.2677-2680

1995

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Comparison of the glycosaminoglycans isolated from the skin and head cartilage of Gould's arrow squid ( Nototodarus gouldi)

Carbohydrate polymers, 2000-04, Vol.41 (4), p.357-364

2000

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Coronal Heating by the Resonant Absorption of Alfvén Waves

International Astronomical Union Colloquium, 1994, Vol.144, p.473-477

1994

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Coronal heating by the resonant absorption of Alfven waves: The effect of viscous stress tensor

The Astrophysical journal, 1994-01, Vol.421 (1), p.360

1994

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Coronal heating by the resonant absorption of Alfven waves: Wavenumber scaling laws

The Astrophysical journal, 1995-05, Vol.444 (1), p.471

1995

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Correction: The Proteome of Human Liver Peroxisomes: Identification of Five New Peroxisomal Constituents by a Label-Free Quantitative Proteomics Survey

PloS one, 2013-10, Vol.8 (10)

2013

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Correction: The Proteome of Human Liver Peroxisomes: Identification of Five New Peroxisomal Constituents by a Label-Free Quantitative Proteomics Survey

PloS one, 2013-01, Vol.8 (10)

2013

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2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency Is Caused by Mutations in the HADH2 Gene

2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency : An X-linked inborn error of isoleucine metabolism that may mimic a mitochondrial disease

Abnormal myelin formation in rhizomelic chondrodysplasia punctata type 2 (DHAPAT-deficiency)

Acyl-CoA: dihydroxyacetone phosphate acyltransferase in human skin fibroblasts: study of its properties using a new assay method

Acyl-CoA: Dihydroxyacetonephosphate Acyltransferase: Cloning of the Human cDNA and Resolution of the Molecular Basis in Rhizomelic Chondrodysplasia Punctata Type 2

Aspirin Use and Risk of Atrial Fibrillation in the Physicians' Health Study

Autophagy Inhibitors Do Not Restore Peroxisomal Functions in Cells With the Most Common Peroxisome Biogenesis Defect

Carnitine Biosynthesis: Identification of the cDNA Encoding Human γ-Butyrobetaine Hydroxylase

Carnitine biosynthesis. Purification of gamma-butyrobetaine hydroxylase from rat liver

Carnitine palmitoyltransferase II specificity towards beta-oxidation intermediates--evidence for a reverse carnitine cycle in mitochondria

Cholesterol-deprivation increases mono-unsaturated very long-chain fatty acids in skin fibroblasts from patients with X-linked adrenoleukodystrophy

Clinical and economic assessment of the omeprazole test in patients with symptoms suggestive of gastroesophageal reflux disease

The clinical and economic impact of competing management strategies for gastro‐oesophageal reflux disease

The clinical and economic value of a short course of omeprazole in patients with noncardiac chest pain

Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria

Clinical economics review : nutritional support

Clinical utility of serodiagnostic testing in suspected pediatric inflammatory bowel disease

Clinical utility of serodiagnostic testing in suspected pediatric inflammatory bowel disease

Comment on: Nonlinear studies of coronal heating by the resonant absorption of Alfvén waves. Authors' reply

Comparison of the glycosaminoglycans isolated from the skin and head cartilage of Gould's arrow squid ( Nototodarus gouldi)

Coronal Heating by the Resonant Absorption of Alfvén Waves

Coronal heating by the resonant absorption of Alfven waves: The effect of viscous stress tensor

Coronal heating by the resonant absorption of Alfven waves: Wavenumber scaling laws

Correction: The Proteome of Human Liver Peroxisomes: Identification of Five New Peroxisomal Constituents by a Label-Free Quantitative Proteomics Survey

Correction: The Proteome of Human Liver Peroxisomes: Identification of Five New Peroxisomal Constituents by a Label-Free Quantitative Proteomics Survey

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