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Effect of a new non-cleavable substrate analog on wild-type and serine mutants in the signature sequence of adenylosuccinate lyase of Bacillus subtilis and Homo sapiensBiochemical and biophysical analysis of five disease-associated human adenylosuccinate lyase mutantsNeuropathological Mechanisms of Seizures in Autism Spectrum DisorderTransition-state inhibitors of purine salvage and other prospective enzyme targets in malariaStructure ofStaphylococcus aureusadenylosuccinate lyase (PurB) and assessment of its potential as a target for structure-based inhibitor discoveryStructural and Biochemical Characterization of Human Adenylosuccinate Lyase (ADSL) and the R303C ADSL Deficiency-Associated MutationExploring metabolic pathway disruption in the subchronic phencyclidine model of schizophrenia with the Generalized Singular Value DecompositionMagnetic resonance imaging of the brain in adenylosuccinate lyase deficiency: a report of seven cases and a review of the literature.Should metabolic diseases be systematically screened in nonsyndromic autism spectrum disorders?Misleading behavioural phenotype with adenylosuccinate lyase deficiencyAdenylosuccinate lyase deficiency.Molecular and Clinical Aspects of Angelman Syndrome.Progress Towards Simple and Direct Detection of Adenylosuccinate Lyase Deficiency in Human Urine.Genetic testing in autism: how much is enough?Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum.Zebrafish mutations in gart and paics identify crucial roles for de novo purine synthesis in vertebrate pigmentation and ocular development.Clinical and genetic aspects of Angelman syndrome.Comparative proteomic analysis of the outer membrane protein 43 (omp43) deficient Bartonella henselae.AMPD1 functional variants associated with autism in Han Chinese population.In vitro hybridization and separation of hybrids of human adenylosuccinate lyase from wild-type and disease-associated mutant enzymes.Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations.Mutations in the Chinese hamster ovary cell GART gene of de novo purine synthesis.Molecular characterization of the AdeI mutant of Chinese hamster ovary cells: a cellular model of adenylosuccinate lyase deficiency.Important roles of hydroxylic amino acid residues in the function of Bacillus subtilis adenylosuccinate lyase.Modifiers of Prat, a de novo purine synthesis gene, in Drosophila melanogaster.D-ribose therapy in four Polish patients with adenylosuccinate lyase deficiency: absence of positive effect.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.Fumaric acid production by Torulopsis glabrata: engineering the urea cycle and the purine nucleotide cycle.Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Absent Speech, and Involuntary Movements.Inborn errors of purine metabolism: clinical update and therapies.
P2860
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P2860
description
2006 nî lūn-bûn
@nan
2006 թուականին հրատարակուած գիտական յօդուած
@hyw
2006 թվականին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Adenylosuccinate lyase deficiency
@ast
Adenylosuccinate lyase deficiency
@en
Adenylosuccinate lyase deficiency
@nl
type
label
Adenylosuccinate lyase deficiency
@ast
Adenylosuccinate lyase deficiency
@en
Adenylosuccinate lyase deficiency
@nl
prefLabel
Adenylosuccinate lyase deficiency
@ast
Adenylosuccinate lyase deficiency
@en
Adenylosuccinate lyase deficiency
@nl
P3181
P1476
Adenylosuccinate lyase deficiency
@en
P2093
David Patterson
Erin K Spiegel
P3181
P356
10.1016/J.YMGME.2006.04.018
P407
P577
2006-01-01T00:00:00Z