Clinical severity in Lesch-Nyhan disease: the role of residual enzyme and compensatory pathways
about
Spatial colocalization and functional link of purinosomes with mitochondria.Neuroteratology and Animal Modeling of Brain Disorders.Hypoxanthine deregulates genes involved in early neuronal development. Implications in Lesch-Nyhan disease pathogenesis.A review of the implication of hypoxanthine excess in the physiopathology of Lesch-Nyhan disease.A New View into the Regulation of Purine Metabolism: The Purinosome.Lesch-Nyhan syndrome: The saga of metabolic abnormalities and self-injurious behavior.Expression of the purine biosynthetic enzyme phosphoribosyl formylglycinamidine synthase (FGAMS) in neurons.Role of HSP90 in the Regulation of de Novo Purine Biosynthesis.Do clinical features of Lesch-Nyhan disease correlate more closely with hypoxanthine or guanine recycling?
P2860
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P2860
Clinical severity in Lesch-Nyhan disease: the role of residual enzyme and compensatory pathways
description
2014 nî lūn-bûn
@nan
2014 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Clinical severity in Lesch-Nyh ...... zyme and compensatory pathways
@ast
Clinical severity in Lesch-Nyh ...... zyme and compensatory pathways
@en
Clinical severity in Lesch-Nyh ...... zyme and compensatory pathways
@nl
type
label
Clinical severity in Lesch-Nyh ...... zyme and compensatory pathways
@ast
Clinical severity in Lesch-Nyh ...... zyme and compensatory pathways
@en
Clinical severity in Lesch-Nyh ...... zyme and compensatory pathways
@nl
prefLabel
Clinical severity in Lesch-Nyh ...... zyme and compensatory pathways
@ast
Clinical severity in Lesch-Nyh ...... zyme and compensatory pathways
@en
Clinical severity in Lesch-Nyh ...... zyme and compensatory pathways
@nl
P2093
P2860
P1476
Clinical severity in Lesch-Nyh ...... zyme and compensatory pathways
@en
P2093
David J Schretlen
Diane Sutcliffe
H A Jinnah
Steve Benkovic
Xinyi Huang
P2860
P356
10.1016/J.YMGME.2014.11.001
P577
2014-11-08T00:00:00Z