Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects.
about
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 deficiencyCarnitine Deficiency and Pregnancy.Abnormal Newborn Screening in a Healthy Infant of a Mother with Undiagnosed Medium-Chain Acyl-CoA Dehydrogenase Deficiency.Screening of a healthy newborn identifies three adult family members with symptomatic glutaric aciduria type I.Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management.Primary Carnitine Deficiency Presents Atypically with Long QT Syndrome: A Case Report.Biochemical Monitoring and Management During Pregnancy in Patients with Isovaleric Acidaemia is Helpful to Prevent Metabolic DecompensationFatty Acid oxidation disorders in a chinese population in taiwan.Primary carnitine deficiency and cardiomyopathyExtended newborn screening: an update for the general paediatrician.Inborn errors of metabolism and expanded newborn screening: review and update.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.The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group.Carnitine transport and fatty acid oxidation.Carnitine levels in 26,462 individuals from the nationwide screening program for primary carnitine deficiency in the Faroe Islands.Primary Carnitine deficiency in the Faroe Islands: health and cardiac status in 76 adult patients diagnosed by screening.Exome sequencing identifies primary carnitine deficiency in a family with cardiomyopathy and sudden death.Primary carnitine deficiency and pivalic acid exposure causing encephalopathy and fatal cardiac events.Functional and molecular studies in primary carnitine deficiency.Defective SLC22A5 does not cotransport CAR; Na+ from extracellular region to cytosolMultiple acyl-CoA dehydrogenation deficiency as decreased acyl-carnitine profile in serum.Carnitine Uptake Defect (Primary Carnitine Deficiency): Risk in Genotype-Phenotype Correlation
P2860
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P2860
Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects.
description
2010 nî lūn-bûn
@nan
2010年の論文
@ja
2010年学术文章
@wuu
2010年学术文章
@zh
2010年学术文章
@zh-cn
2010年学术文章
@zh-hans
2010年学术文章
@zh-my
2010年学术文章
@zh-sg
2010年學術文章
@yue
2010年學術文章
@zh-hant
name
Maternal systemic primary carn ...... emical, and molecular aspects.
@en
Maternal systemic primary carn ...... emical, and molecular aspects.
@nl
type
label
Maternal systemic primary carn ...... emical, and molecular aspects.
@en
Maternal systemic primary carn ...... emical, and molecular aspects.
@nl
prefLabel
Maternal systemic primary carn ...... emical, and molecular aspects.
@en
Maternal systemic primary carn ...... emical, and molecular aspects.
@nl
P2093
P2860
P50
P1433
P1476
Maternal systemic primary carn ...... hemical, and molecular aspects
@en
P2093
Ayman W El-Hattab
Berkley R Powell
Erawati V Bawle
Erica Wahl
Fang-Yuan Li
Fernando Scaglia
Joyce A Kobori
Lee-Jun Wong
P2860
P2888
P356
10.1097/GIM.0B013E3181C5E6F7
P407
P577
2010-01-01T00:00:00Z
P6179
1006013718