| scholarly article | Q13442814 |
| P356 | DOI | 10.1080/15257770.2011.591747 |
| P8608 | Fatcat ID | release_x6n64wijd5a5hkquaaf35npaui |
| P698 | PubMed publication ID | 22132967 |
| P50 | author | Arjan P M de Brouwer | Q114367409 |
| P2093 | author name string | John Christodoulou | |
| John A Duley | |||
| P2860 | cites work | AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC | Q24534042 |
| Discoveries of nicotinamide riboside as a nutrient and conserved NRK genes establish a Preiss-Handler independent route to NAD+ in fungi and humans | Q27937147 | ||
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| PRPS1 mutations: four distinct syndromes and potential treatment. | Q34109408 | ||
| Adenine phosphoribosyltransferase deficiency: a previously undescribed genetic defect in man | Q34279417 | ||
| Phosphoribosylpyrophosphate synthetase and the regulation of phosphoribosylpyrophosphate production in human cells | Q34364449 | ||
| Thiopurine therapies: problems, complexities, and progress with monitoring thioguanine nucleotides | Q34452553 | ||
| Dramatic reduction in self-injury in Lesch-Nyhan disease following S-adenosylmethionine administration | Q34556951 | ||
| Disorders of purine and pyrimidine metabolism | Q36263825 | ||
| Clinical expression, genetics and therapy of adenosine deaminase (ADA) deficiency | Q41521392 | ||
| When to investigate for purine and pyrimidine disorders. Introduction and review of clinical and laboratory indications | Q41521428 | ||
| Altered erythrocyte nucleotide patterns are characteristic of inherited disorders of purine or pyrimidine metabolism | Q42214047 | ||
| Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis | Q50307550 | ||
| Metabolism of 4-pyridone-3-carboxamide-1-β-D-ribonucleoside (4PYR) in rodent tissues and in vivo. | Q52607935 | ||
| P433 | issue | 12 | |
| P304 | page(s) | 1129-1139 | |
| P577 | publication date | 2011-12-01 | |
| P1433 | published in | Nucleosides, Nucleotides & Nucleic Acids | Q7068261 |
| P1476 | title | The PRPP synthetase spectrum: what does it demonstrate about nucleotide syndromes? | |
| P478 | volume | 30 |
| Q28591864 | AMPD3-deficient mice exhibit increased erythrocyte ATP levels but anemia not improved due to PK deficiency |
| Q34534367 | Additive reductions in zebrafish PRPS1 activity result in a spectrum of deficiencies modeling several human PRPS1-associated diseases. |
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| Q37341756 | Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy |
| Q39354809 | Impairment 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 |
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| Q34467709 | Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling |
| Q47551317 | Pathophysiological Role of Purines and Pyrimidines in Neurodevelopment: Unveiling New Pharmacological Approaches to Congenital Brain Diseases |
| Q30396867 | Phosphoribosyl Diphosphate (PRPP): Biosynthesis, Enzymology, Utilization, and Metabolic Significance. |
| Q27325281 | Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders |
| Q28078384 | Primary Mitochondrial Disease and Secondary Mitochondrial Dysfunction: Importance of Distinction for Diagnosis and Treatment |
| Q59798260 | Role of Nicotinamide Adenine Dinucleotide and Related Precursors as Therapeutic Targets for Age-Related Degenerative Diseases: Rationale, Biochemistry, Pharmacokinetics, and Outcomes |
| Q37716693 | The Effect of S-Adenosylmethionine on Self-Mutilation in a Patient with Lesch-Nyhan Disease |
| Q102206214 | Winter is coming: Regulation of cellular metabolism by enzyme polymerization in dormancy and disease |
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