| review article | Q7318358 |
| scholarly article | Q13442814 |
| P6179 | Dimensions Publication ID | 1013109089 |
| P356 | DOI | 10.1007/BF00861588 |
| P698 | PubMed publication ID | 8439471 |
| P2093 | author name string | Simmonds HA | |
| Moro F | |||
| Cameron JS | |||
| P2860 | cites work | Only three mutations account for almost all defective alleles causing adenine phosphoribosyltransferase deficiency in Japanese patients | Q24564868 |
| Mutant feedback-resistant phosphoribosylpyrophosphate synthetase associated with purine overproduction and gout. Phosphoribosylpyrophosphate and purine metabolism in cultured fibroblasts | Q24600872 | ||
| Identification of a single missense mutation in the adenine phosphoribosyltransferase (APRT) gene from five Icelandic patients and a British patient | Q24673810 | ||
| Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency | Q24679024 | ||
| Hypouricemia due to isolated renal tubular defect. Dalmatian dog mutation in man | Q28249762 | ||
| Autosomal dominant transmission of gouty arthritis with renal disease in a large Japanese family | Q33563401 | ||
| Juvenile gout | Q33567820 | ||
| Familial hyperuricaemia and hypertriglyceridaemia | Q33568720 | ||
| An evaluation of the pathogenesis of the gouty kidney | Q34036513 | ||
| Xanthinuria, an inborn error (or deviation) of metabolism | Q34233860 | ||
| Demonstration of a combined deficiency of xanthine oxidase and aldehyde oxidase in xanthinuric patients not forming oxipurinol | Q34316963 | ||
| Uricosuric agents in uremic sera. Identification of indoxyl sulfata and hippuric acid | Q34479326 | ||
| An unusual form of renal disease associated with gout and hypertension | Q36626858 | ||
| What is the pathogenesis of familial gouty nephropathy? | Q36950202 | ||
| Uric acid, gout and the kidney | Q37094583 | ||
| Defects of tetrahydrobiopterin synthesis and their possible relationship to a disorder of purine metabolism (the Lesch-Nyhan syndrome). | Q38699510 | ||
| Molybdenum hydroxylases: biological distribution and substrate-inhibitor specificity | Q39704403 | ||
| Xanthine nephropathy during chemotherapy in deficiency of hypoxanthine-guanine phosphoribosyltransferase | Q40886422 | ||
| Paradoxical effects of pyrazinoate and nicotinate on urate transport in dog renal microvillus membranes | Q40919744 | ||
| Hypouricemia by Defect in the Tubular Reabsorption | Q41666145 | ||
| Pharmacological evaluation of urate renal handling in humans: pyrazinamide test vs combined pyrazinamide and probenecid administration | Q70346075 | ||
| Hypouricemia in Hodgkin's disease | Q70371366 | ||
| Spontaneous interstitial nephritis in kdkd mice. I. An experimental model of autoimmune renal disease | Q70382651 | ||
| A case of familial renal hypouricemia associated with increased secretion of para-aminohippurate and idiopathic edema | Q70411208 | ||
| Nephropathy, xanthinuria, and orotic aciduria complicating Burkitt's lymphoma treated with chemotherapy and allopurinol | Q70426504 | ||
| Juvenile nephronophthisis and medullary cystic disease--the same disease (report of a large family with medullary cystic disease associated with gout and epilepsy) | Q70449163 | ||
| Renal failure due to 2,8-dihydroxyadenine urolithiasis | Q70478608 | ||
| Uric Acid in Advanced Renal Failure | Q70492638 | ||
| Pregnancy in xanthinuria: demonstration of fetal uric acid production? | Q70499006 | ||
| Juvenile gouty arthritis. Two cases associated with mild renal insufficiency | Q70606521 | ||
| Uric acid crystal‐induced nephropathy: Evidence for a specific renal lesion in a gouty family | Q71008452 | ||
| Renal handling of uric acid in normal subjects by means of the pyrazinamide and probenecid tests | Q71079454 | ||
| Familial hyperuricemia and renal disease | Q71257839 | ||
| Problems of diagnosis in an adolescent with hypoxanthine-guanine phosphoribosyltransferase deficiency and acute renal failure | Q71344149 | ||
| Renal failure in young subjects with familial gout | Q71346922 | ||
| Familial gout and renal failure in young women | Q71357105 | ||
| Limited value of uric acid to creatinine ratios in estimating uric acid excretion | Q71527291 | ||
| Drosophila melanogaster ma-l mutants are defective in the sulfuration of desulfo Mo hydroxylases | Q71590270 | ||
| Familial nephropathy with hyperuricemia and gout | Q71747615 | ||
| Xanthine calculi in the Lesch-Nyhan syndrome | Q71771013 | ||
| Hypouricemia: with evidence for tubular elimination of uric acid | Q80702194 | ||
| 2,8-Dihydroxyadenine urolithiasis, an underdiagnosed disease | Q95792891 | ||
| Renal outcomes of gout and hyperuricemia | Q41718903 | ||
| The identification of 2,8-dihydroxyadenine, a new component of urinary stones | Q41853117 | ||
| Experimental crystal nephropathy (one year study in the pig) | Q41989297 | ||
| Molybdenum cofactor deficiency in a patient previously characterized as deficient in sulfite oxidase | Q42211065 | ||
| The rate of purine synthesis de nova in blood mononuclear cells in vitro from patients with familial hyperuricaemic nephropathy | Q42256645 | ||
| Familial occurrence of hyperuricemia, gout, and medullary cystic disease | Q44023328 | ||
| Precocious familial gout with reduced fractional urate clearance and normal purine enzymes | Q44126990 | ||
| Localization of renal tubular uric acid transport defect in gouty chickens | Q44382002 | ||
| Urate and p-aminohippurate transport in the brush border membrane of the pig kidney | Q44588466 | ||
| Familial hyperuricemia and renal insufficiency | Q44975015 | ||
| The spectrum of HPRT deficiency: an update. | Q46142046 | ||
| Familial urate nephropathy | Q47614454 | ||
| Hypouricaemia and proximal renal tubular dysfunction in acute myeloid leukaemia. | Q54171284 | ||
| X-linked recessive nephrolithiasis with renal failure | Q57226527 | ||
| Gout, familial hypericaemia, and renal disease | Q57462655 | ||
| Inborn hypouricemia due to isolated renal tubular defect | Q66921361 | ||
| Hypouricemia and malignant neoplasms. A new case of xanthinuria | Q66938321 | ||
| Renal function in gout. IV. An analysis of 524 gouty subjects including long-term follow-up studies | Q67347335 | ||
| Promoter regions of the human X-linked housekeeping genes PRPS1 and PRPS2 encoding phosphoribosylpyrophosphate synthetase subunit I and II isoforms | Q67487491 | ||
| 2,8-Dihydroxyadenine urolithiasis | Q67516274 | ||
| Renal urate excretion in five cases of hypouricemia with an isolated renal defect of urate transport | Q67600962 | ||
| Urate transport in the proximal tubule of human kidney | Q67854831 | ||
| Renal Urate Hypoexcretion Preceding Renal Disease in a New Kindred with Familial Juvenile Gouty Nephropathy (FJGN) | Q67854836 | ||
| Familial nephropathy and gout: which comes first? | Q67854840 | ||
| Does allopurinol affect the progression of familial juvenile gouty nephropathy? | Q67854844 | ||
| Hypouricemia--a differential diagnostic problem | Q67920774 | ||
| Familial juvenile gouty nephropathy with renal urate hypoexcretion preceding renal disease | Q67946590 | ||
| Decreased renal clearance of xanthine and hypoxanthine in a patient with renal hypouricemia: a new defect in renal handling of purines | Q68014167 | ||
| Mechanism of hypouricemia in Hodgkin's disease. Isolated defect in postsecretory reabsorption of uric acid | Q68032457 | ||
| Renal sonography in long standing Lesch-Nyhan syndrome | Q68205806 | ||
| Hereditary xanthinuria in 2 Pakistani sisters: asymptomatic in one with beta-thalassemia but causing xanthine stone, obstructive uropathy and hypertension in the other | Q68260039 | ||
| Identification of distinct PRS1 mutations in two patients with X-linked phosphoribosylpyrophosphate synthetase superactivity | Q68272425 | ||
| Renal handling of uric acid in normal children by means of the pyrazinamide and sulfinpyrazone tests | Q69024432 | ||
| Hypouricemia, Hypercalciuria, and Decreased Bone Density: A Hereditary Syndrome | Q69370881 | ||
| Medullary cystic disease: an inherited form of autoimmune interstitial nephritis? | Q69436931 | ||
| Purine enzyme defects as a cause of acute renal failure in childhood | Q69480620 | ||
| Cyclosporine-induced hyperuricemia and gout | Q69518303 | ||
| Hereditary xanthinuria presenting in infancy with nephrolithiasis | Q69612548 | ||
| Hypouricemia in Hodgkin's disease. Report of an additional case | Q69617672 | ||
| Allopurinol in renal failure and the tumour lysis syndrome | Q69660816 | ||
| Hereditary xanthinuria with severe urolithiasis occurring in infancy as renal tubular acidosis and hypercalciuria | Q69667589 | ||
| Hypouricemia due to increased tubular urate secretion | Q69733151 | ||
| Lead nephropathy | Q69793850 | ||
| Interpretation of pharmacologic manipulation of urate transport in man | Q69944460 | ||
| Cause of persistent hypouricemia in outpatients | Q69944488 | ||
| Underexcretory-type hyperuricemia, disproportionate to the reduced glomerular filtration rate, in two boys with mild proteinuria | Q70251419 | ||
| P433 | issue | 1 | |
| P304 | page(s) | 105-118 | |
| P577 | publication date | 1993-02-01 | |
| P1433 | published in | Pediatric Nephrology | Q15749796 |
| P1476 | title | Gout, uric acid and purine metabolism in paediatric nephrology | |
| P478 | volume | 7 |
| Q40997371 | Abnormal serum uric acid levels in children |
| Q44394127 | Adenine phosphoribosyltransferase deficiency in children |
| Q48456965 | Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome. |
| Q37065647 | Association between genotype and phenotype in uromodulin-associated kidney disease |
| Q33742416 | Attenuated variants of Lesch-Nyhan disease |
| Q43916491 | Childhood hyperuricemia and acute renal failure resulting from a missense mutation in the HPRT gene |
| Q40672693 | Clinical and biochemical aspects of uric acid overproduction |
| Q46448461 | Clinico-pathologic findings in medullary cystic kidney disease type 2. |
| Q34157725 | Comorbidities in patients with crystal diseases and hyperuricemia |
| Q50222619 | Converting Red Blood Cells to Efficient Microreactors for Blood Detoxification |
| Q93117613 | Corneal Endothelial Morphology and Thickness Changes in Patients with Gout |
| Q88128871 | Could corneal densitometry be used as a diagnostic and screening tool for ocular involvement in patients with gout? |
| Q35993936 | Current medical treatment in pediatric urolithiasis |
| Q50589083 | Demonstration of induction of erythrocyte inosine monophosphate dehydrogenase activity in Ribavirin-treated patients using a high performance liquid chromatography linked method |
| Q73254510 | Determination of purines including 2,8-dihydroxyadenine in urine using capillary electrophoresis |
| Q40474529 | Diagnosis and Treatment of Inborn Errors of Purine and Pyrimidine Metabolism: An Overview |
| Q35522716 | Diagnosis and management of gout: a rational approach |
| Q46555780 | Eighteen-year follow-up of a patient with partial hypoxanthine phosphoribosyltransferase deficiency and a new mutation |
| Q72025837 | Familial Juvenile Hyperuricaemic Nephropathy in Adolescents |
| Q59461788 | Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes |
| Q51372566 | Familial juvenile hyperuricemic nephropathy as rare cause of dialysis-dependent chronic kidney disease-a series of cases in two families. |
| Q34390610 | Familial juvenile hyperuricemic nephropathy: localization of the gene on chromosome 16p11.2-and evidence for genetic heterogeneity |
| Q73613978 | Familial renal disease or familial juvenile hyperuricaemic nephropathy? |
| Q37141695 | First Report of Familial Juvenile Hyperuricemic Nephropathy (FJHN) in Iran Caused By a Novel De Novo Mutation (E197X) in UMOD. |
| Q36633418 | Fractional clearance of urate: validation of measurement in spot-urine samples in healthy subjects and gouty patients. |
| Q38599956 | Gouty arthropathy: Review of clinico-pathologic and imaging features |
| Q92534037 | Hyperuricemia and Hypertension: Links and Risks |
| Q47897502 | Hyperuricemia and acute renal failure in a newborn. |
| Q92703277 | Hyperuricemia in Children and Adolescents: Present Knowledge and Future Directions |
| Q38235840 | Inborn errors of metabolism underlying primary immunodeficiencies |
| Q37416449 | Inborn errors of purine and pyrimidine metabolism. |
| Q54341718 | Inborn errors of purine metabolism: clinical update and therapies. |
| Q28244040 | Inborn errors of pyrimidine metabolism: clinical update and therapy |
| Q51978421 | Lesch-Nyhan syndrome presenting as acute renal failure secondary to obstructive uropathy. |
| Q48031852 | Medullary cystic kidney disease with hyperuricemia and gout in a large Cypriot family: no allelism with nephronophthisis type 1. |
| Q58601385 | Metabolomic insights of macrophage responses to graphene nanoplatelets: Role of scavenger receptor CD36 |
| Q24672705 | Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy |
| Q85008893 | Nephrocalcinosis and urolithiasis in children |
| Q46678964 | Nephrolithiasis in children |
| Q79385856 | Partial hypoxanthine-guanine phosphoribosyl transferase deficiency without elevated urinary hypoxanthine excretion |
| Q72025595 | Renal Urate Hypoexcretion in Polynesian Women is not as Severe as in United Kingdom (UK) Women with Familial Juvenile Hyperuricaemic Nephropathy (FJHN) |
| Q51594941 | Structure-wise discrimination of cytosine, thymine, and uracil by proteins in terms of their nonbonded interactions. |
| Q45232822 | The age-related increase in N-methyl-2-pyridone-5-carboxamide (NAD catabolite) in human plasma |
| Q35167380 | The relationship between serum uric acid and spirometric values in participants in a health check: the Takahata study |
| Q80748120 | Uric acid nephrolithiasis |
| Q71692310 | Urinary uric acid excretion and renal function in newborn infants |
| Q38476954 | Urine alkalinization may be enough for the treatment of bilateral renal pelvis stones associated with Lesch-Nyhan syndrome |
| Q36186402 | Urolithiasis in children: medical approach |
| Q40672685 | When and how does one search for inborn errors of purine and pyrimidine metabolism? |
| Q41521428 | When to investigate for purine and pyrimidine disorders. Introduction and review of clinical and laboratory indications |
| Q55627552 | Xanthine calculi in a patient with Lesch-Nyhan syndrome and factor V Leiden treated with allopurinol: case report. |
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