| P50 | author | Philippe Jouvet | Q42644298 |
| | Jean-Paul Bonnefont | Q56241280 |
| P2093 | author name string | P de Lonlay | |
| | J M Saudubray | |
| | D Bonnet | |
| | G Touati | |
| | D Martin | |
| | C Vianey-Saban | |
| | A Slama | |
| | D Rabier | |
| | P Kamoun | |
| | M Brivet | |
| | F Poggi-Travert | |
| | M Boutron | |
| P2860 | cites work | Muscle Carnitine Palmityltransferase Deficiency and Myoglobinuria | Q28245199 |
| | A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts | Q28258358 |
| | The inborn errors of mitochondrial fatty acid oxidation | Q28290744 |
| | Defects in activation and transport of fatty acids | Q33688360 |
| | Prophylaxis of early ventricular fibrillation by inhibition of acylcarnitine accumulation | Q34568583 |
| | Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood. | Q35194087 |
| | Fatty acid oxidation disorders: A new class of metabolic diseases | Q36297561 |
| | Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake | Q36885831 |
| | Docosahexaenoic acid and retinal function in children with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. | Q37221642 |
| | Screening for inborn errors of fatty acid oxidation in cultured fibroblasts: an overview | Q37915128 |
| | Disorders of mitochondrial beta-oxidation: prenatal and early postnatal diagnosis and their relevance to Reye's syndrome and sudden infant death | Q38237411 |
| | Glutaric aciduria type II: review of the phenotype and report of an unusual glomerulopathy | Q38639290 |
| | Glutaric acidemia type II. Comparison of pathologic features in two infants | Q39615774 |
| | Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies | Q40512099 |
| | Rate-dependent distal renal tubular acidosis and carnitine palmitoyltransferase I deficiency | Q40604838 |
| | Evidence for intermediate channeling in mitochondrial beta-oxidation | Q41380859 |
| | Oxidation of fatty acids in cultured fibroblasts: a model system for the detection and study of defects in oxidation | Q41626822 |
| | Inborn errors of metabolism diagnosed in sudden death cases by acylcarnitine analysis of postmortem bile | Q41678023 |
| | Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients | Q42544580 |
| | Sudden infant death syndrome and multiple acyl-coenzyme A dehydrogenase deficiency, ethylmalonic-adipic aciduria, or systemic carnitine deficiency | Q43446495 |
| | Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: a cause of lethal myopathy and cardiomyopathy in early childhood | Q43792460 |
| | Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism | Q43990199 |
| | Carnitine Deficiency of Human Skeletal Muscle with Associated Lipid Storage Myopathy: A New Syndrome | Q44097276 |
| | Normal muscle CPT1 and CPT2 activities in hepatic presentation patients with CPT1 deficiency in fibroblasts. Tissue specific isoforms of CPT1? | Q44261854 |
| | Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first year of life | Q47971925 |
| | Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria. | Q48595380 |
| | Short-chainL-3-hydroxyacyl-CoA dehydrogenase deficiency in muscle: A new cause for recurrent myoglobinuria and encephalopathy | Q48662662 |
| | Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two newborn brothers. II. Morphology and pathogenesis | Q48900127 |
| | Mitochondrial trifunctional protein deficiency associated with recurrent myoglobinuria in adolescence. | Q51573624 |
| | Clinical diagnosis of long-chain acyl-coenzyme A-dehydrogenase deficiency: use of stress and fat-loading tests. | Q51610119 |
| | The fasting test in paediatrics: application to the diagnosis of pathological hypo- and hyperketotic states. | Q51613212 |
| | The L-3-hydroxyacyl-CoA dehydrogenase deficiency. | Q51617289 |
| | Riboflavin-responsive lipid myopathy and carnitine deficiency. | Q51653319 |
| | Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency. | Q51655046 |
| | Clinical approach to inherited metabolic diseases in the neonatal period: A 20-year survey | Q56241350 |
| | Familial hypoketotic hypoglycaemia associated with peripheral neuropathy, pigmentary retinopathy and C6–C14 hydroxydicarboxylic aciduria. A new defect in fatty acid oxidation? | Q56241354 |
| | Hypoparathyroidism in mitochondrial trifunctional protein deficiency | Q57588464 |
| | Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency | Q57588504 |
| | Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset | Q61763884 |
| | Elevated plasma carnitine in the hepatic form of carnitine palmitoyltransferase-1 deficiency | Q63384430 |
| | Multiple acyl-coenzyme A dehydrogenation disorders (MAD) responsive to riboflavin: biochemical studies in fibroblasts | Q67937427 |
| | The role of tandem mass spectrometry in the diagnosis of fatty acid oxidation disorders | Q67937429 |
| | Detection and quantitation of acylcarnitines in plasma and blood spots from patients with inborn errors of fatty acid oxidation | Q67937431 |
| | Lethal neonatal multiorgan deficiency of carnitine palmitoyltransferase II | Q68073212 |
| | Brief report: renal tubular acidosis in carnitine palmitoyltransferase type 1 deficiency | Q68142950 |
| | A simple screening test for medium-chain acyl CoA dehydrogenase deficiency | Q69885079 |
| | Riboflavin-responsive ethylmalonic-adipic aciduria | Q69986680 |
| | The honeybee syndrome - implications of the teratogenicity of mannose in rat-embryo culture | Q71252794 |
| | Retrospective diagnosis of carnitine-acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents | Q71345316 |
| | Rapid diagnosis of long chain and medium chain fatty acid oxidation disorders using lymphocytes | Q72325064 |
| | Stridor as the major presenting symptom in riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency | Q73867119 |
| | Hypoparathyroidism in a patient with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency caused by the G1528C mutation | Q73951614 |
| P433 | issue | 4 | |
| P921 | main subject | fatty acid | Q61476 |
| P304 | page(s) | 488-502 | |
| P577 | publication date | 1999-06-01 | |
| P1433 | published in | Journal of Inherited Metabolic Disease | Q6295359 |
| P1476 | title | Recognition and management of fatty acid oxidation defects: a series of 107 patients | |
| P478 | volume | 22 | |