Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency.

Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency.

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http://www.wikidata.org/entity/Q46559027
Neuropathological Mechanisms of Seizures in Autism Spectrum DisorderStructural and Biochemical Characterization of Human Adenylosuccinate Lyase (ADSL) and the R303C ADSL Deficiency-Associated MutationInborn errors of pyrimidine metabolism: clinical update and therapyCan psychiatric childhood disorders be due to inborn errors of metabolism?Magnetic resonance imaging of the brain in adenylosuccinate lyase deficiency: a report of seven cases and a review of the literature.Adenylosuccinate lyase deficiency.Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum.Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiencyCryptococcus neoformans ADS lyase is an enzyme essential for virulence whose crystal structure reveals features exploitable in antifungal drug design.Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations.Genetic and metabolomic analysis of AdeD and AdeI mutants of de novo purine biosynthesis: cellular models of de novo purine biosynthesis deficiency disordersMolecular characterization of the AdeI mutant of Chinese hamster ovary cells: a cellular model of adenylosuccinate lyase deficiency.Neurologic presentation, diagnostics, and therapeutic insights in a severe case of adenylosuccinate lyase deficiency.Inborn errors of purine metabolism: clinical update and therapies.Plausibility of the zebrafish embryos/larvae as an alternative animal model for autism: A comparison study of transcriptome changes
P2860

Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency.

Item
http://www.wikidata.org/entity/Q46559027
description
2008 nî lūn-bûn
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2008年の論文
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2008年学术文章
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2008年学术文章
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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
Clinical, biochemical and mole ...... ylosuccinate lyase deficiency.
@en
Clinical, biochemical and mole ...... ylosuccinate lyase deficiency.
@nl
type
label
Clinical, biochemical and mole ...... ylosuccinate lyase deficiency.
@en
Clinical, biochemical and mole ...... ylosuccinate lyase deficiency.
@nl
prefLabel
Clinical, biochemical and mole ...... ylosuccinate lyase deficiency.
@en
Clinical, biochemical and mole ...... ylosuccinate lyase deficiency.
@nl
P1433
P1476
P2093
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P356
P1433
P1476
Clinical, biochemical and mole ...... ylosuccinate lyase deficiency.
@en
P2093
P304
P31
P356
10.1016/J.YMGME.2008.04.013
P433
P478
P50
P577
P5875
P698