Genotype-phenotype correlation in primary carnitine deficiency
about
Intravenous lipid administration for drug-induced toxicity: a critical review of the existing data.Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management.Wide tolerance to amino acids substitutions in the OCTN1 ergothioneine transporter.Fatty Acid oxidation disorders in a chinese population in taiwan.Primary carnitine deficiency and cardiomyopathyResidual OCTN2 transporter activity, carnitine levels and symptoms correlate in patients with primary carnitine deficiency.Pathophysiology of fatty acid oxidation disorders and resultant phenotypic variability.OCTN cation transporters in health and disease: role as drug targets and assay development.Carnitine transport and fatty acid oxidation.Primary Carnitine (OCTN2) Deficiency Without Neonatal Carnitine Deficiency.Functional and molecular studies in primary carnitine deficiency.Carnitine Uptake Defect (Primary Carnitine Deficiency): Risk in Genotype-Phenotype Correlation
P2860
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P2860
Genotype-phenotype correlation in primary carnitine deficiency
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
Genotype-phenotype correlation in primary carnitine deficiency
@ast
Genotype-phenotype correlation in primary carnitine deficiency
@en
type
label
Genotype-phenotype correlation in primary carnitine deficiency
@ast
Genotype-phenotype correlation in primary carnitine deficiency
@en
prefLabel
Genotype-phenotype correlation in primary carnitine deficiency
@ast
Genotype-phenotype correlation in primary carnitine deficiency
@en
P2093
P2860
P356
P1433
P1476
Genotype-phenotype correlation in primary carnitine deficiency
@en
P2093
Cristina Amat di San Filippo
Emily C Rose
Marzia Pasquali
Orly Ardon
Uzochi C Ndukwe Erlingsson
P2860
P304
P356
10.1002/HUMU.21607
P50
P577
2011-10-11T00:00:00Z