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chain 3-hydroxyacyl-coa dehydrogenase (43) 43
lipid metabolism, inborn errors - genetics (43) 43
cells, cultured (41) 41
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lipid metabolism, inborn errors - diagnosis (41) 41
acyl-coa dehydrogenase (39) 39
adolescent (37) 37
analysis (36) 36
coenzyme-a dehydrogenase (36) 36
enoyl-coa hydratase - deficiency (36) 36
g1528c mutation (36) 36
alpha-subunit (34) 34
cardiomyopathy (34) 34
disease (34) 34
fibroblasts - enzymology (34) 34
liver (34) 34
mitochondria - metabolism (34) 34
trifunctional protein-deficiency (32) 32
defects (31) 31
dna mutational analysis (31) 31
mitochondria - enzymology (31) 31
base sequence (30) 30
deficiency (30) 30
acid beta-oxidation (29) 29
fatty acid oxidation (29) 29
gene (29) 29
genetic aspects (29) 29
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lipid metabolism, inborn errors - metabolism (28) 28
multienzyme complexes - metabolism (28) 28
phenotype (28) 28
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metabolic diseases (26) 26
peroxisomal bifunctional enzyme (26) 26
enzyme (25) 25
lipid metabolism, inborn errors - enzymology (25) 25
long-chain 3-hydroxyacyl-coa dehydrogenase deficiency (25) 25
mice (25) 25
mitochondrial trifunctional protein - deficiency (25) 25
molecular sequence data (25) 25
3-hydroxydicarboxylic aciduria (24) 24
carnitine (24) 24
human genetics (24) 24
rat-liver mitochondria (24) 24
tandem mass-spectrometry (24) 24
fatal outcome (23) 23
fibroblasts - metabolism (23) 23
hypoglycemia (23) 23
ophthalmology (23) 23
acyl-coa dehydrogenase, long-chain - deficiency (22) 22
biochemistry, general (22) 22
carnitine - analogs & derivatives (22) 22
enoyl-coa hydratase - metabolism (22) 22
physiological aspects (22) 22
acute disease (21) 21
cell biology (21) 21
dehydrogenases (21) 21
diagnosis, differential (21) 21
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Journal of Biological Chemistry, ISSN 0021-9258, 10/2010, Volume 285, Issue 41, pp. 31806 - 31818
Journal Article
Acta Paediatrica, International Journal of Paediatrics, ISSN 0803-5253, 12/2016, Volume 105, Issue 12, p. 1451
Aim: There have been few studies on long-term electroretinographic findings in patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD).... 
Electroretinography | Clinical Medicine | Medical and Health Sciences | Chorioretinal atrophy | Medicin och hälsovetenskap | Oftalmologi | Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency | Ophthalmology | Klinisk medicin
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 02/2015, Volume 10, Issue 1, pp. 21 - 21
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2018, Volume 8, Issue 1, pp. 3254 - 9
Children diagnosed with Long-Chain-3-Hydroxy-Acyl-CoA-Dehydrogenase-Deficiency (LCHADD) or Very-Long-Chain-3-Hydroxy-Acyl-CoA-Dehydrogenase-Deficiency (VLCADD)... 
SKELETAL-MUSCLE | INSULIN-RESISTANCE | MULTIDISCIPLINARY SCIENCES | CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE | DYNAMICS | FOLLOW-UP | DYSFUNCTION | Reactive oxygen species | Dehydrogenases | Growth rate | Cardiomyopathy | Mitochondrial DNA | Dehydrogenase | Fatty acids | Acyl-CoA dehydrogenase | Mitochondria | Metabolites | Morphology | CYBB protein | Glycolysis | Oxidation | Children | Mutation | Electron transport
Journal Article
Journal of Human Genetics, ISSN 1434-5161, 11/2014, Volume 59, Issue 11, pp. 609 - 614
Journal Article
PLoS ONE, ISSN 1932-6203, 2011, Volume 6, Issue 4, pp. e17534 - e17534
Objective: To elucidate the pathophysiology of SCAD deficient patients who have a unique neurological phenotype, among fatty acid oxidation disorders, with... 
SCAD DEFICIENCY | BIOLOGY | ETHYLMALONIC ACID | HYDROGEN-PEROXIDE | YOUNG-RATS | RAT-BRAIN | CREATINE-KINASE ACTIVITY | SUPEROXIDE-DISMUTASE | CEREBRAL-CORTEX | NEWBORN BLOOD SPOTS | CELL-DEATH | Acyl-CoA Dehydrogenase - metabolism | Lipid Metabolism, Inborn Errors - metabolism | Humans | Mitochondria - metabolism | Antioxidants - pharmacology | Mitochondria - drug effects | Fibroblasts - pathology | Vitamin K 3 - toxicity | Lipid Metabolism, Inborn Errors - physiopathology | Acyl-CoA Dehydrogenase - deficiency | Lipid Metabolism, Inborn Errors - pathology | Fibroblasts - drug effects | Adolescent | Oxidative Stress - drug effects | Fibroblasts - metabolism | Oxidative stress | Medical research | Acetylcysteine | Disease susceptibility | Glucose | Fatty acids | Dextrose | Carnitine | Antioxidants | Cell death | Medicine, Experimental | Seizures (Medicine) | Comparative analysis | Pediatrics | Central nervous system | Disorders | Dehydrogenase | Risk factors | Proteins | Mitochondria | Fibroblasts | Physiology | Stresses | Free radicals | Menadione | Cultures | Patients | Neurology | Bezafibrate | Skin | Temperature control | Mutation | Hyperthermia | Viability | Temperature | Phosphorylation | Laboratories | Chains | Lipids | Kinases | Acyl-CoA dehydrogenase | Neurotoxicity | Metabolites | Rodents | Oxidation | Trends | Seizures | 3-Hydroxyacyl-CoA dehydrogenase | Adenosine | Incubation | Hypoglycemia | Palmitoyltransferase | Vitamins | Stress | Carnitine palmitoyltransferase | Medicine | Musculoskeletal system | Brain research | Apoptosis | Myopathy | Index Medicus
Journal Article
Acta Paediatrica, ISSN 0803-5253, 12/2016, Volume 105, Issue 12, pp. 1451 - 1460
Journal Article
Archives of the Spanish Society for Ophthalmology (Archivos de la Sociedad Española de Oftalmología, English Edition), ISSN 2173-5794, 2016, Volume 91, Issue 5, pp. 236 - 239
Abstract Clinical case A five-year-old patient, with a diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, was referred for an ophthalmological... 
Ophthalmology | Neural retina | Coriorretinopatía | Fatty acid | Déficit de 3-hidroxiacil-CoA deshidrogenasa de cadena larga | HADHA gene | Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency | Ácidos grasos | Gen HADHA | Chorioretinopathy | Retina neural
Journal Article
Acta Paediatrica, ISSN 0803-5253, 05/2016, Volume 105, Issue 5, pp. 549 - 554
Journal Article