Pathophysiology of fatty acid oxidation disorders and resultant phenotypic variability

Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency

(2012) N. Cornelius et al.   HUMAN MOLECULAR GENETICS

A description of large-scale metabolomics studies: increasing value by combining metabolomics with genome-wide SNP genotyping and transcriptional profiling

(2012) Georg Homuth et al.   JOURNAL OF ENDOCRINOLOGY

Primary carnitine deficiency and pivalic acid exposure causing encephalopathy and fatal cardiac events

(2012) Jan Rasmussen et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Cofactors and metabolites as potential stabilizers of mitochondrial acyl-CoA dehydrogenases

(2011) Tânia G. Lucas et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Thermolabile CPT II variants and low blood ATP levels are closely related to severity of acute encephalopathy in Japanese children

(2011) Masaya Kubota et al.   BRAIN & DEVELOPMENT

Exposure to resveratrol triggers pharmacological correction of fatty acid utilization in human fatty acid oxidation-deficient fibroblasts

(2011) J. Bastin et al.   HUMAN MOLECULAR GENETICS

Genotype-phenotype correlation in primary carnitine deficiency

(2011) Emily C. Rose et al.   HUMAN MUTATION

Fatal viral infection-associated encephalopathy in two Chinese boys: a genetically determined risk factor of thermolabile carnitine palmitoyltransferase II variants

(2011) Chloe Miu Mak et al.   JOURNAL OF HUMAN GENETICS

PTC124 improves readthrough and increases enzymatic activity of the CPT1A R160X nonsense mutation

(2011) Lu Tan et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Characterization of mitochondrial proteome in a severe case of ETF-QO deficiency

(2011) H. Rocha et al.   Journal of Proteomics

Toxicity of octanoate and decanoate in rat peripheral tissues: evidence of bioenergetic dysfunction and oxidative damage induction in liver and skeletal muscle

(2011) Giselli Scaini et al.   MOLECULAR AND CELLULAR BIOCHEMISTRY

Impaired fasting tolerance among Alaska native children with a common carnitine palmitoyltransferase 1A sequence variant

(2011) Melanie B. Gillingham et al.   MOLECULAR GENETICS AND METABOLISM

Bezafibrate upregulates carnitine palmitoyltransferase II expression and promotes mitochondrial energy crisis dissipation in fibroblasts of patients with influenza-associated encephalopathy

(2011) Min Yao et al.   MOLECULAR GENETICS AND METABOLISM

Long-Term Follow-Up of Bezafibrate Treatment in Patients With the Myopathic Form of Carnitine Palmitoyltransferase 2 Deficiency

(2010) J P Bonnefont et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

Mechanism of Hyperinsulinism in Short-chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency Involves Activation of Glutamate Dehydrogenase

(2010) Changhong Li et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Disease mechanisms and protein structures in fatty acid oxidation defects

(2010) Niels Gregersen et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A general introduction to the biochemistry of mitochondrial fatty acid β-oxidation

(2010) Sander Michel Houten et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Mitochondrial fatty acid oxidation disorders: pathophysiological studies in mouse models

(2010) Ute Spiekerkoetter et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results

(2010) Ronald J. A. Wanders et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Mitochondrial fatty acid oxidation disorders: clinical presentation of long-chain fatty acid oxidation defects before and after newborn screening

(2010) Ute Spiekerkoetter   JOURNAL OF INHERITED METABOLIC DISEASE

cis-4-decenoic acid provokes mitochondrial bioenergetic dysfunction in rat brain

(2010) Patrícia Fernanda Schuck et al.   LIFE SCIENCES

Disturbance of mitochondrial energy homeostasis caused by the metabolites accumulating in LCHAD and MTP deficiencies in rat brain

(2010) Anelise M. Tonin et al.   LIFE SCIENCES

Identification and characterization of new long chain Acyl-CoA dehydrogenases

(2010) Miao He et al.   MOLECULAR GENETICS AND METABOLISM

Evidence for an Association Between Infant Mortality and a Carnitine Palmitoyltransferase 1A Genetic Variant

(2010) B. D. Gessner et al.   PEDIATRICS

Evidence that the major metabolites accumulating in medium-chain acyl-CoA dehydrogenase deficiency disturb mitochondrial energy homeostasis in rat brain

(2009) Patrícia Fernanda Schuck et al.   BRAIN RESEARCH

The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations

(2009) Cheryl R. Greenberg et al.   MOLECULAR GENETICS AND METABOLISM

Impact of short- and medium-chain organic acids, acylcarnitines, and acyl-CoAs onmitochondrial energy metabolism

(2008) Sven Wolfgang Sauer et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Mitochondrial fatty acid oxidation defects—remaining challenges

(2008) Niels Gregersen et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Review of the expression of peroxisome proliferator-activated receptors alpha (PPARα), beta (PPARβ), and gamma (PPARγ) in rodent and human development

(2008) Barbara D. Abbott   REPRODUCTIVE TOXICOLOGY