Identification of novel mutations of the HADHA and HADHB genes in patients with mitochondrial trifunctional protein deficiency.
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Observations regarding retinopathy in mitochondrial trifunctional protein deficienciesProbing mechanisms of axonopathy. Part I: Protein targets of 1,2-diacetylbenzene, the neurotoxic metabolite of aromatic solvent 1,2-diethylbenzeneAn Exploration of Genetic Test Utilization, Genetic Counseling, and Consanguinity within the Inborn Errors of Metabolism Collaborative (IBEMC).Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of 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 genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening.
P2860
Identification of novel mutations of the HADHA and HADHB genes in patients with mitochondrial trifunctional protein deficiency.
description
2007 nî lūn-bûn
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2007年の論文
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2007年学术文章
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2007年学术文章
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2007年学术文章
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2007年学术文章
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2007年学术文章
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2007年学术文章
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2007年學術文章
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name
Identification of novel mutati ...... functional protein deficiency.
@en
Identification of novel mutati ...... functional protein deficiency.
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type
label
Identification of novel mutati ...... functional protein deficiency.
@en
Identification of novel mutati ...... functional protein deficiency.
@nl
prefLabel
Identification of novel mutati ...... functional protein deficiency.
@en
Identification of novel mutati ...... functional protein deficiency.
@nl
P2093
P1476
Identification of novel mutati ...... ifunctional protein deficiency
@en
P2093
Gu-Hwan Kim
Han-Wook Yoo
Hye-Ran Yoon
Jin-Ho Choi
Young-Lim Shin
P577
2007-01-01T00:00:00Z