Clinical and molecular aspects of Japanese patients with mitochondrial trifunctional protein deficiency

Clinical and molecular aspects of Japanese patients with mitochondrial trifunctional protein deficiency

Item
http://www.wikidata.org/entity/Q28255983
A compound heterozygous mutation in HADHB gene causes an axonal Charcot-Marie-tooth diseaseObservations regarding retinopathy in mitochondrial trifunctional protein deficienciesMitochondrial trifunctional protein deficiency due to HADHB gene mutation in a Chinese family.A fetus with mitochondrial trifunctional protein deficiency: Elevation of 3-OH-acylcarnitines in amniotic fluid functionally assured the genetic diagnosis.Muscle MRI in patients with long-chain fatty acid oxidation disorders.Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency.Acute fatty liver of pregnancy associated with fetal mitochondrial trifunctional protein deficiency.High prevalence of carriers of variant c.1528G>C of HADHA gene causing long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) in the population of adult Kashubians from North Poland.Clinical and molecular investigation of 14 Japanese patients with complete TFP deficiency: a comparison with Caucasian cases.
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Clinical and molecular aspects of Japanese patients with mitochondrial trifunctional protein deficiency

Item
http://www.wikidata.org/entity/Q28255983
description
2009 nî lūn-bûn
@nan
2009 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Clinical and molecular aspects ...... ifunctional protein deficiency
@ast
Clinical and molecular aspects ...... ifunctional protein deficiency
@en
Clinical and molecular aspects ...... ifunctional protein deficiency
@nl
type
label
Clinical and molecular aspects ...... ifunctional protein deficiency
@ast
Clinical and molecular aspects ...... ifunctional protein deficiency
@en
Clinical and molecular aspects ...... ifunctional protein deficiency
@nl
prefLabel
Clinical and molecular aspects ...... ifunctional protein deficiency
@ast
Clinical and molecular aspects ...... ifunctional protein deficiency
@en
Clinical and molecular aspects ...... ifunctional protein deficiency
@nl
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Clinical and molecular aspects ...... ifunctional protein deficiency
@en
P2093
P304
P31
P356
10.1016/J.YMGME.2009.07.011
P407
P433
P478
P577
P698
P921