Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria.
about
Suggested guidelines for the diagnosis and management of urea cycle disordersArgininosuccinate lyase deficiencyExpanding the phenotype in argininosuccinic aciduria: need for new therapies.Incidence, disease onset and short-term outcome in urea cycle disorders -cross-border surveillance in Germany, Austria and Switzerland.Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases.Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond.Optimizing therapy for argininosuccinic aciduria.A randomized controlled trial to evaluate the effects of high-dose versus low-dose of arginine therapy on hepatic function tests in argininosuccinic aciduria.Development of an assay to simultaneously measure orotic acid, amino acids, and acylcarnitines in dried blood spotsUnderstanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria.Cross-sectional observational study of 208 patients with non-classical urea cycle disordersMetabolic screening for the newborn.Newborn screening for lysosomal storage diseases: an ethical and policy analysis.Universal screening for inherited metabolic diseases in the neonate (and the fetus).Argininosuccinic aciduria: from a monogenic to a complex disorder.Genetic diseases that predispose to early liver cirrhosis.Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen.Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria.The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.Liver involvement in urea cycle disorders: a review of the literature.Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria.
P2860
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P2860
Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria.
description
2010 nî lūn-bûn
@nan
2010年の論文
@ja
2010年学术文章
@wuu
2010年学术文章
@zh
2010年学术文章
@zh-cn
2010年学术文章
@zh-hans
2010年学术文章
@zh-my
2010年学术文章
@zh-sg
2010年學術文章
@yue
2010年學術文章
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name
Long-term outcome of patients ...... newborn screening in Austria.
@en
Long-term outcome of patients ...... newborn screening in Austria.
@nl
type
label
Long-term outcome of patients ...... newborn screening in Austria.
@en
Long-term outcome of patients ...... newborn screening in Austria.
@nl
prefLabel
Long-term outcome of patients ...... newborn screening in Austria.
@en
Long-term outcome of patients ...... newborn screening in Austria.
@nl
P2093
P1476
Long-term outcome of patients ...... y newborn screening in Austria
@en
P2093
D Moeslinger
M W Strobl
S Mercimek-Mahmutoglu
S Scheibenreiter
S Stöckler-Ipsiroglu
P356
10.1016/J.YMGME.2010.01.013
P50
P577
2010-02-04T00:00:00Z