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A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform

Human molecular genetics, 2015-10, Vol.24 (20), p.5845-5854

2015

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Impaired amino acid metabolism contributes to fasting-induced hypoglycemia in fatty acid oxidation defects

Human molecular genetics, 2013-12, Vol.22 (25), p.5249-5261

2013

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Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene

Brain (London, England : 1878), 2011, Vol.134 (Pt 1), p.210-219

2011

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Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria

Journal of inherited metabolic disease, 2015-09, Vol.38 (5), p.873-879

2015

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Identification of enzymes involved in oxidation of phenylbutyrate

Journal of lipid research, 2017-05, Vol.58 (5), p.955-961

2017

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HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase

Orphanet journal of rare diseases, 2013-12, Vol.8 (1), p.188-188, Article 188

2013

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Vision on gyrate atrophy: why treat the eye?

EMBO molecular medicine, 2024-01, Vol.16 (1), p.4-7

2024

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Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology

Human mutation, 2019-10, Vol.40 (10), p.1700-1712

2019

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Inhibition of hepatic carnitine palmitoyl-transferase I (CPT IA) by valproyl-CoA as a possible mechanism of valproate-induced steatosis

Biochemical pharmacology, 2010-03, Vol.79 (5), p.792-799

2010

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Plasmalogens participate in very-long-chain fatty acid-induced pathology

Brain (London, England : 1878), 2009-02, Vol.132 (2), p.482-492

2009

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Ataxia with loss of Purkinje cells in a mouse model for Refsum disease

Proceedings of the National Academy of Sciences - PNAS, 2008-11, Vol.105 (46), p.17712-17717

2008

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Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency

JAMA : the journal of the American Medical Association, 2006-08, Vol.296 (8), p.943

2006

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A mild case of sodium-dependent multivitamin transporter (SMVT) deficiency illustrating the importance of treatment response in variant classification

Cold Spring Harbor molecular case studies, 2022-02, Vol.8 (2), p.1

2022

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P-210 - Drug-induced effects on urea cycle enzymes associate with altered ammonia metabolism, NAD+ biosynthesis and mitochondrial protein acetylome

Free radical biology & medicine, 2018-05, Vol.120, p.S108-S108

2018

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Drug-induced effects on urea cycle enzymes associate with altered ammonia metabolism, NAD + biosynthesis and mitochondrial protein acetylome

Free radical biology & medicine, 2018-05, Vol.120, p.S108

2018

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The significance of peroxisome function in chronological aging of Saccharomyces cerevisiae

Aging cell, 2013-10, Vol.12 (5), p.784-793

2013

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The Biochemistry and Physiology of Mitochondrial Fatty Acid [Beta]-Oxidation and Its Genetic Disorders

Annual review of physiology, 2016-01, Vol.78, p.23

2016

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Carnitine supplementation in high-fat diet-fed rats does not ameliorate lipid-induced skeletal muscle mitochondrial dysfunction in vivo

American journal of physiology: endocrinology and metabolism, 2015-10, Vol.309 (7), p.E670-E678

2015

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Phospholipid abnormalities in children with Barth syndrome

Journal of the American College of Cardiology, 2003-12, Vol.42 (11), p.1994-1999

2003

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Food withdrawal lowers energy expenditure and induces inactivity in long‐chain fatty acid oxidation–deficient mouse models

The FASEB journal, 2014-07, Vol.28 (7), p.2891-2900

2014

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Bezafibrate lowers very long-chain fatty acids in X-linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongation

Journal of inherited metabolic disease, 2012-11, Vol.35 (6), p.1137-1145

2012

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Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria

Orphanet journal of rare diseases, 2013-07, Vol.8 (1), p.98-98

2013

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A mutation in an alternative untranslated exon of hexokinase 1 associated with Hereditary Motor and Sensory Neuropathy - Russe (HMSNR)

European journal of human genetics : EJHG, 2009-12, Vol.17 (12), p.1606-1614

2009

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A mild case of SMVT deficiency illustrating the importance of treatment response in variant classification

Cold Spring Harbor molecular case studies, 2022-02, p.mcs.a006185

2022

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An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life

Orphanet journal of rare diseases, 2013-07, Vol.8 (1), p.99-99, Article 99

2013

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A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform

Impaired amino acid metabolism contributes to fasting-induced hypoglycemia in fatty acid oxidation defects

Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene

Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria

Identification of enzymes involved in oxidation of phenylbutyrate

HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase

Vision on gyrate atrophy: why treat the eye?

Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology

Inhibition of hepatic carnitine palmitoyl-transferase I (CPT IA) by valproyl-CoA as a possible mechanism of valproate-induced steatosis

Plasmalogens participate in very-long-chain fatty acid-induced pathology

Ataxia with loss of Purkinje cells in a mouse model for Refsum disease

Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency

A mild case of sodium-dependent multivitamin transporter (SMVT) deficiency illustrating the importance of treatment response in variant classification

P-210 - Drug-induced effects on urea cycle enzymes associate with altered ammonia metabolism, NAD+ biosynthesis and mitochondrial protein acetylome

Drug-induced effects on urea cycle enzymes associate with altered ammonia metabolism, NAD + biosynthesis and mitochondrial protein acetylome

The significance of peroxisome function in chronological aging of Saccharomyces cerevisiae

The Biochemistry and Physiology of Mitochondrial Fatty Acid [Beta]-Oxidation and Its Genetic Disorders

Carnitine supplementation in high-fat diet-fed rats does not ameliorate lipid-induced skeletal muscle mitochondrial dysfunction in vivo

Phospholipid abnormalities in children with Barth syndrome

Food withdrawal lowers energy expenditure and induces inactivity in long‐chain fatty acid oxidation–deficient mouse models

Bezafibrate lowers very long-chain fatty acids in X-linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongation

Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria

A mutation in an alternative untranslated exon of hexokinase 1 associated with Hereditary Motor and Sensory Neuropathy - Russe (HMSNR)

A mild case of SMVT deficiency illustrating the importance of treatment response in variant classification

An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life

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