scholarly article | Q13442814 |
P356 | DOI | 10.1007/S10545-010-9170-Y |
P698 | PubMed publication ID | 20824345 |
P2093 | author name string | M J Bennett | |
P2860 | cites work | Outcome 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 disease | Q57199604 | ||
Pregnancy and fetal long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency | Q72209907 | ||
Placental floor infarction complicating the pregnancy of a fetus with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency | Q73598257 | ||
A novel brain-expressed protein related to carnitine palmitoyltransferase I | Q28206878 | ||
The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations | Q28235198 | ||
Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene | Q28269681 | ||
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 level | Q28282635 | ||
Short-chain acyl-coenzyme A dehydrogenase deficiency | Q28299438 | ||
Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion | Q28345606 | ||
The mitochondrial carnitine palmitoyltransferase system. From concept to molecular analysis | Q29618429 | ||
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 women | Q33863717 | ||
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients | Q34107665 | ||
Fatty acid oxidation disorders | Q34112648 | ||
Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation | Q34286002 | ||
Reye-like syndrome resulting from novel missense mutations in mitochondrial medium- and short-chain l-3-hydroxy-acyl-CoA dehydrogenase | Q34530717 | ||
Spontaneous development of intestinal and colonic atrophy and inflammation in the carnitine-deficient jvs (OCTN2(-/-)) mice | Q36319365 | ||
Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency. | Q40618705 | ||
Molecular characterization of L-CPT I deficiency in six patients: insights into function of the native enzyme | Q43664822 | ||
Human placenta metabolizes fatty acids: implications for fetal fatty acid oxidation disorders and maternal liver diseases | Q44312288 | ||
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 screening | Q46297121 | ||
Hyperinsulinism of infancy associated with a novel splice site mutation in the SCHAD gene. | Q46471692 | ||
Role of short-chain hydroxyacyl CoA dehydrogenases in SCHAD deficiency | Q46883955 | ||
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 | ||
P433 | issue | 5 | |
P921 | main subject | fatty acid | Q61476 |
pathophysiology | Q1135939 | ||
P304 | page(s) | 533-537 | |
P577 | publication date | 2009-10-10 | |
P1433 | published in | Journal of Inherited Metabolic Disease | Q6295359 |
P1476 | title | Pathophysiology of fatty acid oxidation disorders | |
P478 | volume | 33 |
Q37333950 | Achieving the "triple aim" for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence framework |
Q84648376 | Bezafibrate can be a new treatment option for mitochondrial fatty acid oxidation disorders: evaluation by in vitro probe acylcarnitine assay |
Q26765455 | Bidirectional Relationships and Disconnects between NAFLD and Features of the Metabolic Syndrome |
Q34230920 | Dietary fat and antioxidant vitamin intake in patients of neurodegenerative disease in a rural region of Jalisco, Mexico |
Q38050214 | Dissociating fatty liver and diabetes |
Q37260504 | Evaluation of the child with suspected mitochondrial liver disease |
Q35838049 | Fatty Acid Oxidation and Cardiovascular Risk during Menopause: A Mitochondrial Connection? |
Q28566783 | Fatty acids-stress attenuates gluconeogenesis induction and glucose production in primary hepatocytes |
Q64063298 | Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada |
Q33727858 | High 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 |
Q33846446 | Hypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic genetic activation of PI3-kinase. |
Q48126558 | Infant with hepatomegaly and hypoglycemia: A setting for fatty acid oxidation defects. |
Q39007510 | Ketogenic diet and childhood neurological disorders other than epilepsy: an overview. |
Q34509699 | Ketogenic diets: from cancer to mitochondrial diseases and beyond. |
Q36215331 | Living on the edge: substrate competition explains loss of robustness in mitochondrial fatty-acid oxidation disorders. |
Q28085600 | Mitochondrial dysfunction in fatty acid oxidation disorders: insights from human and animal studies |
Q47758040 | Novel magnetic resonance imaging findings in a patient with short chain acyl CoA dehydrogenase deficiency |
Q53836718 | Open-label clinical trial of bezafibrate treatment in patients with fatty acid oxidation disorders in Japan. |
Q30384327 | Rhabdomyolysis-Associated Mutations in Human LPIN1 Lead to Loss of Phosphatidic Acid Phosphohydrolase Activity. |
Q37375389 | Rodent models of nonalcoholic fatty liver disease/nonalcoholic steatohepatitis |
Q39314157 | Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms |
Q90640507 | Transcriptome analysis suggests a compensatory role of the cofactors coenzyme A and NAD+ in medium-chain acyl-CoA dehydrogenase knockout mice |
Search more.