| scholarly article | Q13442814 |
| P50 | author | John Christodoulou | Q42753915 |
| P2093 | author name string | John A Duley | |
| Shanti Balasubramaniam | |||
| P2860 | cites work | A new case of purine nucleoside phosphorylase deficiency: enzymologic, clinical, and immunologic characteristics | Q70329570 |
| Late diagnosis and correction of purine nucleoside phosphorylase deficiency with allogeneic bone marrow transplantation | Q71167454 | ||
| Correction of purine nucleoside phosphorylase deficiency by transplantation of allogeneic bone marrow from a sibling | Q71447069 | ||
| GTP depletion and other erythrocyte abnormalities in inherited PNP deficiency | Q71604459 | ||
| A new erythroenzymopathy: congenital non-spherocytic hemolytic anemia and hereditary erythrocytic adenylate kinase deficiency | Q71764961 | ||
| Familial opticoacoustic nerve degeneration and polyneuropathy | Q72338083 | ||
| Abnormal AMP deaminase in primary gout | Q72436149 | ||
| Purine nucleoside transport and metabolism in isolated rat jejunum | Q72641153 | ||
| Congenital haemolytic anaemia associated with adenylate kinase deficiency | Q72772375 | ||
| Beneficial effect of a treatment with xylitol in a patient with myoadenylate deaminase deficiency | Q73746350 | ||
| Effect of D-ribose on purine synthesis and neurological symptoms in a patient with adenylosuccinase deficiency | Q78169896 | ||
| Efficacy and safety of allopurinol in patients with hypoxanthine-guanine phosphoribosyltransferase deficiency | Q80794350 | ||
| Hereditary renal hypouricemia: a new role for allopurinol? | Q86822280 | ||
| Adenosine-deaminase deficiency in two patients with severely impaired cellular immunity | Q93729850 | ||
| Monocytes in atherosclerosis: subsets and functions | Q22251045 | ||
| Molecular identification of a renal urate anion exchanger that regulates blood urate levels | Q24297979 | ||
| Arts syndrome is caused by loss-of-function mutations in PRPS1 | Q24337475 | ||
| Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5) | Q24337506 | ||
| AICA-ribosiduria: a novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC | Q24534042 | ||
| Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles | Q24539210 | ||
| Molecular basis of AMP deaminase deficiency in skeletal muscle | Q24564559 | ||
| Exome sequencing identifies the cause of a mendelian disorder | Q24607742 | ||
| Genome-wide association analyses identify 18 new loci associated with serum urate concentrations | Q24620065 | ||
| Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis | Q24642869 | ||
| Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2 | Q24651113 | ||
| Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa | Q24655474 | ||
| Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness | Q24655619 | ||
| Myoadenylate Deaminase Deficiency: A New Disease of Muscle | Q28116871 | ||
| SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout | Q28119164 | ||
| Purine nucleoside phosphorylase deficiency | Q28239114 | ||
| Adenylosuccinate lyase deficiency | Q28251836 | ||
| Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency | Q28273050 | ||
| Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing | Q28285241 | ||
| The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update | Q28296164 | ||
| Disorders of purines and pyrimidines | Q28304575 | ||
| Macrophages in the pathogenesis of atherosclerosis | Q29617765 | ||
| Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. | Q30359250 | ||
| Early-onset stroke and vasculopathy associated with mutations in ADA2 | Q30410263 | ||
| Clinical and molecular features of mitochondrial DNA depletion syndromes. | Q33397750 | ||
| Attenuated variants of Lesch-Nyhan disease | Q33742416 | ||
| Metabolic network of nucleosides in the brain | Q34026085 | ||
| Elevated erythrocyte adenosine deaminase activity in congenital hypoplastic anemia | Q34056095 | ||
| Decreased GTP-stimulated adenylyl cyclase activity in HPRT-deficient human and mouse fibroblast and rat B103 neuroblastoma cell membranes | Q40342351 | ||
| When to investigate for purine and pyrimidine disorders. Introduction and review of clinical and laboratory indications | Q41521428 | ||
| Inherited defects of purine and pyrimidine metabolism: Laboratory methods for diagnosis | Q41521436 | ||
| Lethal fetal and early neonatal presentation of adenylosuccinate lyase deficiency: observation of 6 patients in 4 families | Q41919005 | ||
| Adenylosuccinate Lyase Deficiency in the United Kingdom Pediatric Population: First Three Cases | Q42864222 | ||
| Successful treatment of molybdenum cofactor deficiency type A with cPMP. | Q43102443 | ||
| The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families | Q43578706 | ||
| Treatment of adenosine deaminase deficiency with polyethylene glycol-modified adenosine deaminase | Q43638744 | ||
| Persistent developmental delay despite successful bone marrow transplantation for purine nucleoside phosphorylase deficiency | Q43922657 | ||
| Adenylate kinase 2 deficiency limits survival and regulates various genes during larval stages of Drosophila melanogaster | Q44053897 | ||
| Adenine phosphoribosyltransferase deficiency in children | Q44394127 | ||
| Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase. | Q44783998 | ||
| Stroke in purine nucleoside phosphorylase deficiency | Q45084250 | ||
| Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients | Q45167817 | ||
| Quantitative evaluation of the clinical effects of S-adenosylmethionine on mood and behavior in Lesch-Nyhan patients | Q45207077 | ||
| Gene therapy for immunodeficiency due to adenosine deaminase deficiency. | Q45882856 | ||
| Gene therapy for ADA-SCID: defining the factors for successful outcome | Q45882907 | ||
| NAPDD patients exhibit altered electrophoretic mobility of cytosolic 5' nucleotidase. | Q46180234 | ||
| Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency | Q46559027 | ||
| Successful HLA-identical hematopoietic stem cell transplantation in a patient with purine nucleoside phosphorylase deficiency | Q46970905 | ||
| Treatment of Lesch-Nyhan disease with S-adenosylmethionine: experience with five young Malaysians, including a girl | Q47288328 | ||
| Accelerated transcription of PRPS1 in X-linked overactivity of normal human phosphoribosylpyrophosphate synthetase | Q47982855 | ||
| Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY. | Q48041792 | ||
| Sensorineural deafness in siblings with adenosine deaminase deficiency | Q48971154 | ||
| Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis | Q50307550 | ||
| 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 | Q50311303 | ||
| Cytosolic 5'-nucleotidase hyperactivity in erythrocytes of Lesch-Nyhan syndrome patients | Q50312770 | ||
| X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course. | Q50530035 | ||
| A 9-yr evaluation of carrier erythrocyte encapsulated adenosine deaminase (ADA) therapy in a patient with adult-type ADA deficiency. | Q51979076 | ||
| Genome-wide study of familial juvenile hyperuricaemic (gouty) nephropathy (FJHN) indicates a new locus, FJHN3, linked to chromosome 2p22.1-p21 | Q57667500 | ||
| Distinct neurological syndrome in two brothers with hyperuricaemia | Q67523330 | ||
| Hereditary hemolytic anemia with increased red cell adenosine deaminase (45- to 70-fold) and decreased adenosine triphosphate | Q67547218 | ||
| Orotidine Accumulation in Human Erythrocytes during Allopurinol Therapy: Association with High Urinary Oxypurinol-7-Riboside Concentrations in Renal Failure and in the Lesch-Nyhan Syndrome | Q67915713 | ||
| European experience of bone-marrow transplantation for severe combined immunodeficiency | Q68158333 | ||
| Purine nucleoside phosphorylase in erythrocytes: determination of optimum reaction conditions | Q69189941 | ||
| PRPS1 mutations: four distinct syndromes and potential treatment. | Q34109408 | ||
| Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho(-/-) mice | Q34116773 | ||
| Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency. | Q34154888 | ||
| S-Adenosyl-L-methionine (SAMe): from the bench to the bedside--molecular basis of a pleiotrophic molecule | Q34157910 | ||
| Myoadenylate deaminase deficiency: successful symptomatic therapy by high dose oral administration of ribose | Q34166061 | ||
| Deficiency of AMP deaminase in erythrocytes | Q34191169 | ||
| Gout, uric acid and purine metabolism in paediatric nephrology | Q34360840 | ||
| Phosphoribosylpyrophosphate synthetase and the regulation of phosphoribosylpyrophosphate production in human cells | Q34364449 | ||
| Dramatic reduction in self-injury in Lesch-Nyhan disease following S-adenosylmethionine administration | Q34556951 | ||
| Successful reconstitution of immunity in ADA-SCID by stem cell gene therapy following cessation of PEG-ADA and use of mild preconditioning | Q34569926 | ||
| Erythrocyte adenylate kinase deficiency: characterization of recombinant mutant forms and relationship with nonspherocytic hemolytic anemia. | Q34657517 | ||
| Clinical and molecular characterization of a family with a dominant renin gene mutation and response to treatment with fludrocortisone | Q34687449 | ||
| Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2. | Q34891147 | ||
| Identification of a urate transporter, ABCG2, with a common functional polymorphism causing gout | Q34985649 | ||
| Inherited disorders in the conversion of methionine to homocysteine | Q34991178 | ||
| Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure | Q34996277 | ||
| Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function | Q35286517 | ||
| Phenotype and outcome in hereditary tubulointerstitial nephritis secondary to UMOD mutations | Q35985778 | ||
| Dynamics of nucleotide metabolism as a supporter of life phenomena | Q36259289 | ||
| A specific enzyme defect in gout associated with overproduction of uric acid | Q36463843 | ||
| Medical evaluation and treatment of urolithiasis | Q36485299 | ||
| Developmental disorder associated with increased cellular nucleotidase activity | Q36603603 | ||
| Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia | Q36721775 | ||
| Inosine triphosphate pyrophosphohydrolase (ITPA) polymorphic sequence variants in adult hematological malignancy patients and possible association with mitochondrial DNA defects | Q37152683 | ||
| How I treat ADA deficiency | Q37398309 | ||
| Inborn errors of purine and pyrimidine metabolism. | Q37416449 | ||
| First reported case of Omenn syndrome in a patient with reticular dysgenesis | Q37489514 | ||
| Pediatric neurological syndromes and inborn errors of purine metabolism. | Q37652231 | ||
| Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder | Q37723405 | ||
| Design and validation of a metabolic disorder resequencing microarray (BRUM1). | Q37767676 | ||
| The PRPP synthetase spectrum: what does it demonstrate about nucleotide syndromes? | Q37963491 | ||
| Long-term outcomes after liver transplantation for deoxyguanosine kinase deficiency: a single-center experience and a review of the literature | Q38183355 | ||
| Nucleoside-phosphorylase deficiency in a child with severely defective T-cell immunity and normal B-cell immunity | Q39327898 | ||
| Recessive deoxyguanosine kinase deficiency causes juvenile onset mitochondrial myopathy. | Q39343451 | ||
| P433 | issue | 5 | |
| P304 | page(s) | 669-686 | |
| P577 | publication date | 2014-06-28 | |
| P1433 | published in | Journal of Inherited Metabolic Disease | Q6295359 |
| P1476 | title | Inborn errors of purine metabolism: clinical update and therapies. | |
| P478 | volume | 37 |
| Q104136127 | Atypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in the PRPS1 gene |
| Q64091990 | Extended diagnosis of purine and pyrimidine disorders from urine: LC MS/MS assay development and clinical validation |
| Q125949519 | Extending inherited metabolic disorder diagnostics with biomarker interaction visualizations |
| Q41810483 | New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients |
| Q26746046 | Primary immunodeficiencies associated with eosinophilia |
| Q41927690 | Recessive ITPA mutations cause an early infantile encephalopathy |
| Q91943164 | The ubiquitin ligase UBE3B, disrupted in intellectual disability and absent speech, regulates metabolic pathways by targeting BCKDK |
| Q61813974 | Yeast to Study Human Purine Metabolism Diseases |
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