About: Rapid method for the diagnosis of partial adenine phosphoribosyltransferase deficiencies causing 2,8-dihydroxyadenine urolithiasis

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About: Rapid method for the diagnosis of partial adenine phosphoribosyltransferase deficiencies causing 2,8-dihydroxyadenine urolithiasis Goto Sponge NotDistinct Permalink

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article by F Takeuchi et al published 1 January 1985 in Human Genetics

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття (uk) article by F Takeuchi et al published 1 January 1985 in Human Genetics (en)
publication date	wds:Q93615855-411DE0CD-05BC-409D-9DEC-003B86D1C62F
publication date	1985-01-01 00:00:00Z (xsd:dateTime)
cites work	wds:Q93615855-0413B013-CF9D-4AE3-899D-C1B3AA335F1F wds:Q93615855-1A2672AB-67A2-480C-AB9D-6943AE27D356 wds:Q93615855-1E65C886-E216-47A0-A4EF-8FB160B00847 wds:Q93615855-2C62C9C0-BF2D-41A8-B916-7AFE1EDCD72B wds:Q93615855-3184D224-39DD-413C-931B-299B1E79499F wds:Q93615855-39310A31-841E-434F-BC94-CD7F03EEDC8B wds:Q93615855-39DFAB65-3557-4520-804D-D27F4A2EE6B5 wds:Q93615855-462DF368-8086-4EF6-B688-6307E4EF023B wds:Q93615855-46D11F91-84E2-4150-892C-BD9FBCE292C4 wds:Q93615855-4FC463DF-DF9D-45E3-B5DD-5D7B9AD501DC wds:Q93615855-624DBA14-9766-4C48-BEBD-754043870FA2 wds:Q93615855-727D7634-EE71-4F36-BAF7-0863C4E115A1 wds:Q93615855-74FDA954-2A21-42E7-8D6E-C94E9E09958A wds:Q93615855-8BF3560B-0DD0-4B15-ADC4-6AB6289D43ED wds:Q93615855-95172F77-C15A-41D9-A353-0F994342C564 wds:Q93615855-9F6F9835-C6F8-45D3-ABFB-BEF844EF92B5 wds:Q93615855-A1C82B4F-98C7-42A9-9A51-65FA16D568E3 wds:Q93615855-A48806D4-A333-411D-B828-492B9D1CBE47 wds:Q93615855-A988D019-D24D-4E48-9755-27DEECE4F938 wds:Q93615855-B16656AE-2419-4F65-9EE4-CE0FC0F2FEFC wds:Q93615855-BFCEEDA0-B276-4E2D-B236-0F07FB9BDE85 wds:Q93615855-C14D5B99-FFDC-4553-9BFC-075B6A048D90 wds:Q93615855-CE1EB598-841C-4061-AC44-5EBBE6C6E05A wds:Q93615855-D37758FF-4FF1-4749-B18E-1921639D6F5E wds:Q93615855-E06ABB26-37EF-4B60-B303-1F75D07B9923 wds:Q93615855-E268F40A-1760-45A6-9321-C52CFF2B63C9 wds:Q93615855-F83E3243-B0CE-4506-8EBF-8712E1E965E0 wds:Q93615855-FA4C2939-94BC-4F6D-8A4F-148B96115F37
cites work	Enzyme Defect Associated with a Sex-Linked Human Neurological Disorder and Excessive Purine Synthesis Adenine phosphoribosyltransferase deficiency: its inheritance and occurrence in a female with gout and renal disease [A new metabolic disease: the complete deficit of adenine phosphoribosyltransferase and lithiasis of 2,8-dihydroxyadenine] Adenine phosphoribosyltransferase deficiency in man. Report of a second family Adenine phosphoribosyltransferase: a simple spectrophotometric assay and the incidence of mutation in the normal population Adenine phosphoribosyltransferase deficiency: a previously undescribed genetic defect in man 2,8-dihydroxyadenine urolithiasis: review of the literature and report of a case in the United States. Correlation between adenylate metabolizing enzymes and adenine nucleotide levels of erythrocytes during blood storage in various media 2,8-dihydroxyadenine stone in children Renal failure due to 2,8-dihydroxyadenine urolithiasis A FAMILIAL DISORDER OF URIC ACID METABOLISM AND CENTRAL NERVOUS SYSTEM FUNCTION Complete deficiency of adenine phosphoribosyltransferase. Report of a family A specific enzyme defect in gout associated with overproduction of uric acid A gouty family with increased phosphoribosylpyrophosphate synthetase activity: case reports, familial studies, and kinetic studies of the abnormal enzyme Genetic defects in human purine and pyrimidine metabolism Complete deficiency of adenine phosphoribosyltransferase: a third case presenting as renal stones in a young child Adenine and adenosine metabolism in intact erythrocytes deficient in adenosine monophosphate-pyrophosphate phosphoribosyltransferase: a study of two families Pentamidine transport in Trypanosoma brucei—Kinetics and specificity Studies on adenine and adenosine metabolism by intact human erythrocytes using high performance liquid chromatography Severe impairment in adenine metabolism with a partial deficiency of adenine phosphoribosyltransferase Urolithiasis Due to 2,8-Dihydroxyadenine in an Adult Altered kinetic properties of a mutant adenine phosphoribosyltransferase Dihydroxyadenine urolithiasis in children with partial deficiency of adenine phosphoribosyltransferase Child's Urinary Lithiasis Revealing a Complete Deficit in Adenine Phosphoribosyl Transferase Hereditary deficiency of adenine phosphoribosyl transferase The mode of genetic transmission of a gouty family with increased phosphoribosylpyrophosphate synthetase activity Isolation of a Chinese Hamster Cell Mutant with Low Intracellular Phosphoribosylpyrophosphate Concentration Spectrum of 2,8-dihydroxyadenine urolithiasis in complete APRT deficiency
author name string	wds:Q93615855-0D758B39-4A1E-420F-AF16-721EFBD1DF92 wds:Q93615855-1B2EE242-8666-4F22-89DB-3A2CA9858CE8 wds:Q93615855-333EE0AB-6785-4448-8E86-5146659BFF68 wds:Q93615855-363F7EE9-9FC4-422D-8D87-3E380926A357 wds:Q93615855-80DD762D-FB54-45E4-B3BC-5F5C6DF39B45 wds:Q93615855-A2B1AC32-89F1-4E50-8EF6-9F54A01C4370 wds:Q93615855-DDA8794A-59B1-4534-8813-ECF6E48E1502 wds:Q93615855-E9D20C28-4826-4FCE-B415-1D0C2079AEA2
author name string	T Miyamoto K Nishioka N Kamatani S Fujimori S Enomoto F Takeuchi I Akaoka K Matsuta
rdfs:label	Rapid method for the diagnosis of partial adenine phosphoribosyltransferase deficiencies causing 2,8-dihydroxyadenine urolithiasis (en) Rapid method for the diagnosis of partial adenine phosphoribosyltransferase deficiencies causing 2,8-dihydroxyadenine urolithiasis (nl)
skos:prefLabel	Rapid method for the diagnosis of partial adenine phosphoribosyltransferase deficiencies causing 2,8-dihydroxyadenine urolithiasis (en) Rapid method for the diagnosis of partial adenine phosphoribosyltransferase deficiencies causing 2,8-dihydroxyadenine urolithiasis (nl)
name	Rapid method for the diagnosis of partial adenine phosphoribosyltransferase deficiencies causing 2,8-dihydroxyadenine urolithiasis (en) Rapid method for the diagnosis of partial adenine phosphoribosyltransferase deficiencies causing 2,8-dihydroxyadenine urolithiasis (nl)
title	wds:Q93615855-1605C14E-190F-456E-AD33-BB25E5EC3FE0
title	Rapid method for the diagnosis of partial adenine phosphoribosyltransferase deficiencies causing 2,8-dihydroxyadenine urolithiasis (en)
page(s)	wds:Q93615855-EFC4F99E-0700-4B37-845A-7CCF37DDC8E9
page(s)	167-170
instance of	wds:Q93615855-179932C0-DBCA-4254-906F-FBED6D51E06E
instance of	scholarly article
PubMed ID	wds:Q93615855-2BD8E564-68B4-4E0E-84D9-B6D629AFB65F
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/4043967
PubMed ID	4043967
published in	wds:Q93615855-C04D1B82-D31A-465A-85F2-BE81E26C9B69
published in	Human Genetics
issue	wds:Q93615855-688CE911-9454-4BA1-9DF8-8499A66D4AC3
volume	wds:Q93615855-5022BE48-73FD-450A-8266-D2A847153CCC
issue	2
volume	71
DOI	wds:Q93615855-14ED6012-9F8B-4DA9-AAF8-AC75A931E0BD

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