Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency.
about
Identification of genomic deletions causing inherited retinal degenerations by coverage analysis of whole exome sequencing data.Urea Cycle Defects: Early-Onset Disease Associated with A208T Mutation in OTC Gene-Expanding the Clinical Phenotype.An update on the use of benzoate, phenylacetate and phenylbutyrate ammonia scavengers for interrogating and modifying liver nitrogen metabolism and its implications in urea cycle disorders and liver disease.Profile of sodium phenylbutyrate granules for the treatment of urea-cycle disorders: patient perspectives.
P2860
Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency.
description
2015 nî lūn-bûn
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2015年の論文
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2015年学术文章
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2015年学术文章
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2015年学术文章
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2015年学术文章
@zh-my
2015年学术文章
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2015年學術文章
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2015年學術文章
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2015年學術文章
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name
Clinical outcomes and the muta ...... transcarbamylase deficiency.
@en
type
label
Clinical outcomes and the muta ...... transcarbamylase deficiency.
@en
prefLabel
Clinical outcomes and the muta ...... transcarbamylase deficiency.
@en
P2093
P2860
P356
P1476
Clinical outcomes and the muta ...... transcarbamylase deficiency.
@en
P2093
Beom Hee Lee
Gu-Hwan Kim
Han-Wook Yoo
Ja Hye Kim
Jahyang Cho
Jin-Ho Choi
Jung Hyun Lee
Jung Min Ko
Yoo-Mi Kim
P2860
P2888
P304
P356
10.1038/JHG.2015.54
P577
2015-05-21T00:00:00Z
P6179
1014017803