Phenotype and genotype variation in primary carnitine deficiency.
about
Disorders of carnitine transport and the carnitine cycleFunctional domains in the carnitine transporter OCTN2, defective in primary carnitine deficiencyInborn errors of energy metabolism associated with myopathies.Creatine, L-carnitine, and ω3 polyunsaturated fatty acid supplementation from healthy to diseased skeletal muscle.State of the art in muscle lipid diseases.Genotype-phenotype correlation in primary carnitine deficiencyGenetic defects in fatty acid beta-oxidation and acyl-CoA dehydrogenases. Molecular pathogenesis and genotype-phenotype relationships.Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management.Cardiomyopathy and carnitine deficiencyEnd-stage cardiac disease as an initial presentation of systemic myopathies: case series and literature review.Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype.Brain carnitine deficiency causes nonsyndromic autism with an extreme male bias: A hypothesis.Identification of SLC22A5 Gene Mutation in a Family with Carnitine Uptake Defect.Carnitine transport and fatty acid oxidation.Identification of mutations and evaluation of cardiomyopathy in Turkish patients with primary carnitine deficiency.Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects.Tyrosine residues affecting sodium stimulation of carnitine transport in the OCTN2 carnitine/organic cation transporter.L-carnitine-L-tartrate promotes human hair growth in vitro.Functional and molecular studies in primary carnitine deficiency.Recessive mutations in NDUFA2 cause mitochondrial leukoencephalopathy.
P2860
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P2860
Phenotype and genotype variation in primary carnitine deficiency.
description
2001 nî lūn-bûn
@nan
2001年の論文
@ja
2001年学术文章
@wuu
2001年学术文章
@zh
2001年学术文章
@zh-cn
2001年学术文章
@zh-hans
2001年学术文章
@zh-my
2001年学术文章
@zh-sg
2001年學術文章
@yue
2001年學術文章
@zh-hant
name
Phenotype and genotype variation in primary carnitine deficiency.
@en
Phenotype and genotype variation in primary carnitine deficiency.
@nl
type
label
Phenotype and genotype variation in primary carnitine deficiency.
@en
Phenotype and genotype variation in primary carnitine deficiency.
@nl
prefLabel
Phenotype and genotype variation in primary carnitine deficiency.
@en
Phenotype and genotype variation in primary carnitine deficiency.
@nl
P2093
P2860
P1433
P1476
Phenotype and genotype variation in primary carnitine deficiency.
@en
P2093
Garavaglia B
P2860
P304
P356
10.1097/00125817-200111000-00002
P407
P577
2001-11-01T00:00:00Z
P5875
P6179
1013275985