Molecular characterization of inherited carnitine palmitoyltransferase II deficiency
about
Human liver mitochondrial carnitine palmitoyltransferase I: characterization of its cDNA and chromosomal localization and partial analysis of the geneCloning and characterization of murine carnitine acetyltransferase: evidence for a requirement during cell cycle progressionMolecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expressionCarnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular reviewAbbreviated half-lives and impaired fuel utilization in carnitine palmitoyltransferase II variant fibroblastsMuscle Carnitine Palmitoyltransferase II Deficiency: A Review of Enzymatic Controversy and Clinical FeaturesMitochondrial disorders. A diagnostic challenge in clinical chemistry.Metabolic autopsy with next generation sequencing in sudden unexpected death in infancy: Postmortem diagnosis of fatty acid oxidation disordersActivation of the Ca2+ release channel of skeletal muscle sarcoplasmic reticulum by palmitoyl carnitine.Metabolic cardiomyopathies.Nutrition and physical activity programs for obesity treatment (PRONAF study): methodological approach of the project.Glial β-oxidation regulates Drosophila energy metabolism.Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase geneCloning, sequencing and heterologous expression of a cDNA encoding pigeon liver carnitine acetyltransferase.Pathophysiology of fatty acid oxidation disorders and resultant phenotypic variability.Thermal instability of compound variants of carnitine palmitoyltransferase II and impaired mitochondrial fuel utilization in influenza-associated encephalopathy.Carnitine palmitoyltransferase deficiency in a college athlete: a case report and literature review.Novel mutation in the CPT II gene in a child with periodic febrile myalgia and myoglobinuria.Complementation analysis of carnitine palmitoyltransferase I and II defects.Mammalian mitochondrial beta-oxidation.Over-expression and characterization of active recombinant rat liver carnitine palmitoyltransferase II using baculovirus.Characterisation of carnitine palmitoyltransferases in patients with a carnitine palmitoyltransferase deficiency: implications for diagnosis and therapy.Correction of fatty acid oxidation in carnitine palmitoyl transferase 2-deficient cultured skin fibroblasts by bezafibrate.Modulation of cytokine production by carnitine.Neonatal carnitine palmitoyltransferase II deficiency: failure of treatment despite prolonged survivalAntenatal presentation of carnitine palmitoyltransferase II deficiency.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.
P2860
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P2860
Molecular characterization of inherited carnitine palmitoyltransferase II deficiency
description
1992 nî lūn-bûn
@nan
1992 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
Molecular characterization of inherited carnitine palmitoyltransferase II deficiency
@ast
Molecular characterization of inherited carnitine palmitoyltransferase II deficiency
@en
Molecular characterization of inherited carnitine palmitoyltransferase II deficiency
@nl
type
label
Molecular characterization of inherited carnitine palmitoyltransferase II deficiency
@ast
Molecular characterization of inherited carnitine palmitoyltransferase II deficiency
@en
Molecular characterization of inherited carnitine palmitoyltransferase II deficiency
@nl
prefLabel
Molecular characterization of inherited carnitine palmitoyltransferase II deficiency
@ast
Molecular characterization of inherited carnitine palmitoyltransferase II deficiency
@en
Molecular characterization of inherited carnitine palmitoyltransferase II deficiency
@nl
P2093
P2860
P356
P1476
Molecular characterization of inherited carnitine palmitoyltransferase II deficiency
@en
P2093
E Lamantea
E Verderio
G Finocchiaro
P Cavadini
S DiDonato
S Fiorucci
P2860
P304
P356
10.1073/PNAS.89.18.8429
P407
P577
1992-09-15T00:00:00Z