The PRPP synthetase spectrum: what does it demonstrate about nucleotide syndromes?

The PRPP synthetase spectrum: what does it demonstrate about nucleotide syndromes?

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http://www.wikidata.org/entity/Q37963491
Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders.Primary Mitochondrial Disease and Secondary Mitochondrial Dysfunction: Importance of Distinction for Diagnosis and TreatmentAssociation of PRPS1 Mutations with Disease PhenotypesAMPD3-deficient mice exhibit increased erythrocyte ATP levels but anemia not improved due to PK deficiencyPhosphoribosyl Diphosphate (PRPP): Biosynthesis, Enzymology, Utilization, and Metabolic Significance.Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling.Additive reductions in zebrafish PRPS1 activity result in a spectrum of deficiencies modeling several human PRPS1-associated diseases.Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy.The Effect of S-Adenosylmethionine on Self-Mutilation in a Patient with Lesch-Nyhan DiseaseImpairment of adenylyl cyclase 2 function and expression in hypoxanthine phosphoribosyltransferase-deficient rat B103 neuroblastoma cells as model for Lesch-Nyhan disease: BODIPY-forskolin as pharmacological tool.Pathophysiological Role of Purines and Pyrimidines in Neurodevelopment: Unveiling New Pharmacological Approaches to Congenital Brain Diseases.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.Inborn errors of purine metabolism: clinical update and therapies.Biosynthesis and Biological Activity of Carbasugars
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The PRPP synthetase spectrum: what does it demonstrate about nucleotide syndromes?

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http://www.wikidata.org/entity/Q37963491
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article científic
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article scientifique
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articol științific
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articolo scientifico
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artigo científico
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artigo científico
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artigo científico
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The PRPP synthetase spectrum: what does it demonstrate about nucleotide syndromes?
@en
The PRPP synthetase spectrum: what does it demonstrate about nucleotide syndromes?
@nl
type
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The PRPP synthetase spectrum: what does it demonstrate about nucleotide syndromes?
@en
The PRPP synthetase spectrum: what does it demonstrate about nucleotide syndromes?
@nl
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The PRPP synthetase spectrum: what does it demonstrate about nucleotide syndromes?
@en
The PRPP synthetase spectrum: what does it demonstrate about nucleotide syndromes?
@nl
P1433
P1476
P2093
P2860
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P433
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P1476
The PRPP synthetase spectrum: what does it demonstrate about nucleotide syndromes?
@en
P2093
P2860
P304
P31
P356
10.1080/15257770.2011.591747
P433
P478
P577
P698