D-ribose therapy in four Polish patients with adenylosuccinate lyase deficiency: absence of positive effect.
about
Metabolic disorders of purine metabolism affecting the nervous system.Adenylosuccinate lyase deficiency.Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum.The nonessentiality of essential genes in yeast provides therapeutic insights into a human disease.Simultaneous identification and prioritization of variants in familial, de novo, and somatic genetic disorders with VariantMaster.Neurologic presentation, diagnostics, and therapeutic insights in a severe case of adenylosuccinate lyase deficiency.Early diagnosis of adenylosuccinate lyase deficiency using a high-throughput screening method and a trial of oral S-adenosyl-l-methionine as a treatment method.
P2860
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P2860
D-ribose therapy in four Polish patients with adenylosuccinate lyase deficiency: absence of positive effect.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
@zh-hant
name
D-ribose therapy in four Polis ...... y: absence of positive effect.
@en
D-ribose therapy in four Polis ...... y: absence of positive effect.
@nl
type
label
D-ribose therapy in four Polis ...... y: absence of positive effect.
@en
D-ribose therapy in four Polis ...... y: absence of positive effect.
@nl
prefLabel
D-ribose therapy in four Polis ...... y: absence of positive effect.
@en
D-ribose therapy in four Polis ...... y: absence of positive effect.
@nl
P2093
P2860
P1476
D-ribose therapy in four Polis ...... y: absence of positive effect.
@en
P2093
P2860
P2888
P304
P356
10.1007/S10545-008-0904-Z
P478
31 Suppl 2
P577
2008-07-12T00:00:00Z