N-acetylglutamate synthase deficiency: Novel mutation associated with neonatal presentation and literature review of molecular and phenotypic spectra.
about
Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.Postmortem genetic analysis of sudden unexpected death in infancy: neonatal genetic screening may enable the prevention of sudden infant death.Two novel CPS1 mutations in a case of carbamoyl phosphate synthetase 1 deficiency causing hyperammonemia and leukodystrophy.Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature.N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region
P2860
N-acetylglutamate synthase deficiency: Novel mutation associated with neonatal presentation and literature review of molecular and phenotypic spectra.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年学术文章
@wuu
2016年学术文章
@zh-cn
2016年学术文章
@zh-hans
2016年学术文章
@zh-my
2016年学术文章
@zh-sg
2016年學術文章
@yue
2016年學術文章
@zh
2016年學術文章
@zh-hant
name
N-acetylglutamate synthase def ...... ecular and phenotypic spectra.
@en
type
label
N-acetylglutamate synthase def ...... ecular and phenotypic spectra.
@en
prefLabel
N-acetylglutamate synthase def ...... ecular and phenotypic spectra.
@en
P2860
P1476
N-acetylglutamate synthase def ...... ecular and phenotypic spectra.
@en
P2093
Ayman W El-Hattab
Eiman H Al Kaabi
P2860
P356
10.1016/J.YMGMR.2016.08.004
P577
2016-08-17T00:00:00Z