Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis.
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Autism and Metabolic DiseasesThe characterization of mutant Bacillus subtilis adenylosuccinate lyases corresponding to severe human adenylosuccinate lyase deficienciesEffect 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 mutantsGenes with high penetrance for syndromic and non-syndromic autism typically function within the nucleus and regulate gene expression.Structural and kinetic studies on adenylosuccinate lyase from Mycobacterium smegmatis and Mycobacterium tuberculosis provide new insights on the catalytic residues of the enzymeMutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequenceTwo novel mutant human adenylosuccinate lyases (ASLs) associated with autism and characterization of the equivalent mutant Bacillus subtilis ASLMagnetic resonance imaging of the brain in adenylosuccinate lyase deficiency: a report of seven cases and a review of the literature.Neurologic aspects of adenylosuccinate lyase deficiency.Misleading behavioural phenotype with adenylosuccinate lyase deficiencyAdenylosuccinate lyase deficiency.Crystallization and preliminary structural analysis of Bacillus subtilis adenylosuccinate lyase, an enzyme implicated in infantile autismNovel proton MR spectroscopy findings in adenylosuccinate lyase deficiencyThe nonessentiality of essential genes in yeast provides therapeutic insights into a human disease.The PRPP synthetase spectrum: what does it demonstrate about nucleotide syndromes?In vitro hybridization and separation of hybrids of human adenylosuccinate lyase from wild-type and disease-associated mutant enzymes.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.Capillary electrophoresis for detection of inherited disorders of purine and pyrimidine metabolism: a selective approach.D-ribose therapy in four Polish patients with adenylosuccinate lyase deficiency: absence of positive effect.Prenatal diagnosis in adenylosuccinate lyase deficiency.Inborn errors of purine metabolism: clinical update and therapies.
P2860
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P2860
Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis.
description
1988 nî lūn-bûn
@nan
1988年の論文
@ja
1988年学术文章
@wuu
1988年学术文章
@zh
1988年学术文章
@zh-cn
1988年学术文章
@zh-hans
1988年学术文章
@zh-my
1988年学术文章
@zh-sg
1988年學術文章
@yue
1988年學術文章
@zh-hant
name
Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis.
@en
Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis.
@nl
type
label
Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis.
@en
Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis.
@nl
prefLabel
Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis.
@en
Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis.
@nl
P2093
P356
P1476
Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis.
@en
P2093
F A Beemer
F J van Sprang
F van den Bergh
M F Vincent
P M Theunissen
S K Wadman
P2888
P304
P356
10.1007/BF00445919
P577
1988-11-01T00:00:00Z