Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond.
about
Prognosis and Management of Congenital Hair Shaft Disorders with Fragility-Part I.Reversed argininosuccinate lyase activity in fumarate hydratase-deficient cancer cells.NGS in argininosuccinic aciduria detects a mutation (D145G) which drives alternative splicing of ASL: a case report study.Requirement of argininosuccinate lyase for systemic nitric oxide production.Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria.Argininosuccinic aciduria: from a monogenic to a complex disorder.The importance of the ionic product for water to understand the physiology of the acid-base balance in humans.Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen.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.PACAP Protects the Adolescent and Adult Mice Brain from Ethanol Toxicity and Modulates Distinct Sets of Genes Regulating Similar Networks.Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria.Profile of sodium phenylbutyrate granules for the treatment of urea-cycle disorders: patient perspectives.The ketogenic diet is well tolerated and can be effective in patients with argininosuccinate lyase deficiency and refractory epilepsy.Induction of Nitric-Oxide Metabolism in Enterocytes Alleviates Colitis and Inflammation-Associated Colon Cancer.
P2860
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P2860
Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond.
description
2011 nî lūn-bûn
@nan
2011 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年学术文章
@wuu
2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
@yue
name
Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond.
@ast
Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond.
@en
Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond.
@nl
type
label
Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond.
@ast
Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond.
@en
Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond.
@nl
prefLabel
Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond.
@ast
Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond.
@en
Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond.
@nl
P2093
P2860
P356
P1476
Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond.
@en
P2093
Ayelet Erez
Brendan Lee
Sandesh C Sreenath Nagamani
P2860
P356
10.1002/AJMG.C.30289
P577
2011-02-10T00:00:00Z