Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency.
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Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular reviewAbbreviated half-lives and impaired fuel utilization in carnitine palmitoyltransferase II variant fibroblastsA surviving 24-month-old patient with neonatal-onset carnitine palmitoyltransferase II deficiency.Inborn errors of energy metabolism associated with myopathies.Myopathic causes of exercise intolerance with rhabdomyolysis.Delineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disorders: Thematic Review Series: Genetics of Human Lipid Diseases.Rhabdomyolysis: a genetic perspective.Diagnostic pitfall in antenatal manifestations of CPT II deficiency.McArdle disease: a "pediatric" disorder presenting in an adult with acute kidney injury.Rare diseases in clinical endocrinology: a taxonomic classification system.Cardiac mitochondrial proteomic expression in inbred rat strains divergent in survival time after hemorrhage.Thermal instability of compound variants of carnitine palmitoyltransferase II and impaired mitochondrial fuel utilization in influenza-associated encephalopathy.The investigation and management of metabolic myopathies.Correction of fatty acid oxidation in carnitine palmitoyl transferase 2-deficient cultured skin fibroblasts by bezafibrate.Neonatal carnitine palmitoyltransferase II deficiency: failure of treatment despite prolonged survivalPrenatal diagnosis of carnitine palmitoyltransferase 2 deficiency in chorionic villi: a novel approach.Autopsy case of the neonatal form of carnitine palmitoyltransferase-II deficiency triggered by a novel disease-causing mutation del1737C.Severe Hyperammonemic Encephalopathy Requiring Dialysis Aggravated by Prolonged Fasting and Intermittent High Fat Load in a Ramadan Fasting Month in a Patient with CPTII Homozygous Mutation.The Carnitine Palmitoyl Transferase (CPT) System and Possible Relevance for Neuropsychiatric and Neurological Conditions.Severe infantile carnitine palmitoyltransferase II deficiency in 19-week fetal sibs.ER-associated ubiquitin ligase HRD1 programs liver metabolism by targeting multiple metabolic enzymes
P2860
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P2860
Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency.
description
2003 nî lūn-bûn
@nan
2003 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Correlation between genotype, ...... ansferase 2 (CPT2) deficiency.
@ast
Correlation between genotype, ...... ansferase 2 (CPT2) deficiency.
@en
type
label
Correlation between genotype, ...... ansferase 2 (CPT2) deficiency.
@ast
Correlation between genotype, ...... ansferase 2 (CPT2) deficiency.
@en
prefLabel
Correlation between genotype, ...... ansferase 2 (CPT2) deficiency.
@ast
Correlation between genotype, ...... ansferase 2 (CPT2) deficiency.
@en
P2093
P356
P1433
P1476
Correlation between genotype, ...... ransferase 2 (CPT2) deficiency
@en
P2093
Carina Prip-Buus
France Demaugre
Jean-Marie Saudubray
Laure Thuillier
Michèle Brivet
Noman Kadhom
Stéphanie Gobin
Veronique Droin
P304
P356
10.1002/HUMU.10201
P577
2003-05-01T00:00:00Z