Pathophysiology of fatty acid oxidation disorders

scientific article published on 10 October 2009

Pathophysiology of fatty acid oxidation disorders is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1007/S10545-010-9170-Y
P698PubMed publication ID20824345

P2093author name stringM J Bennett
P2860cites workOutcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study.Q55042915
Fatty acid oxidation in the human fetus: Implications for fetal and adult diseaseQ57199604
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Placental floor infarction complicating the pregnancy of a fetus with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiencyQ73598257
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Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase geneQ28269681
The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular levelQ28282635
Short-chain acyl-coenzyme A dehydrogenase deficiencyQ28299438
Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretionQ28345606
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Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency.Q30783201
A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant womenQ33863717
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patientsQ34107665
Fatty acid oxidation disordersQ34112648
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Reye-like syndrome resulting from novel missense mutations in mitochondrial medium- and short-chain l-3-hydroxy-acyl-CoA dehydrogenaseQ34530717
Spontaneous development of intestinal and colonic atrophy and inflammation in the carnitine-deficient jvs (OCTN2(-/-)) miceQ36319365
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Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzymeQ43664822
Human placenta metabolizes fatty acids: implications for fetal fatty acid oxidation disorders and maternal liver diseasesQ44312288
3-Hydroxyacyl-coenzyme A dehydrogenase deficiency and hyperinsulinemic hypoglycemia: characterization of a novel mutation and severe dietary protein sensitivity.Q46024776
Clinical outcomes of infants with short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD) detected by newborn screeningQ46297121
Hyperinsulinism of infancy associated with a novel splice site mutation in the SCHAD gene.Q46471692
Role of short-chain hydroxyacyl CoA dehydrogenases in SCHAD deficiencyQ46883955
Short-chain acyl-coenzyme A dehydrogenase deficiency in mice.Q51622498
Ophthalmologic findings in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation: a new type of hereditary metabolic chorioretinopathy.Q52187656
Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children.Q52217978
P433issue5
P921main subjectfatty acidQ61476
pathophysiologyQ1135939
P304page(s)533-537
P577publication date2009-10-10
P1433published inJournal of Inherited Metabolic DiseaseQ6295359
P1476titlePathophysiology of fatty acid oxidation disorders
P478volume33

Reverse relations

cites work (P2860)
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Q35838049Fatty Acid Oxidation and Cardiovascular Risk during Menopause: A Mitochondrial Connection?
Q28566783Fatty acids-stress attenuates gluconeogenesis induction and glucose production in primary hepatocytes
Q64063298Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada
Q33727858High grade glioblastoma is associated with aberrant expression of ZFP57, a protein involved in gene imprinting, and of CPT1A and CPT1C that regulate fatty acid metabolism
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