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tu |
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231221s1992 xx ||||| 00| ||eng c |
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|a eng
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| 100 |
1 |
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|a Katsuoka, Y
|e verfasserin
|4 aut
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| 245 |
1 |
0 |
|a 2,8-Dihydroxyadenine urolithiasis due to partial deficit in adenine phosphoribosyltransferase
|b a case report
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| 264 |
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1 |
|c 1992
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| 336 |
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|a Text
|b txt
|2 rdacontent
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| 337 |
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|a ohne Hilfsmittel zu benutzen
|b n
|2 rdamedia
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| 338 |
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|a Band
|b nc
|2 rdacarrier
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| 500 |
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|a Date Completed 17.07.1992
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| 500 |
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|a Date Revised 21.11.2013
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|a published: Print
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|a Citation Status MEDLINE
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| 520 |
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|a Inherited metabolic diseases resulting in urolithiasis secondary to urinary excretion of insoluble substances are rare but often present as urinary obstruction of renal insufficiency. We herein report a case of partial adenine phosphoribosyltransferase deficiency associated with 2,8-dihydroxyadenine urolithiasis. In family members the propositus and his younger brother are homozygotes for defective APRT genes, and who exhibits the type II phenotype designated APRT*J (Japanese type)
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| 650 |
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|a Case Reports
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| 650 |
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4 |
|a Journal Article
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| 650 |
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7 |
|a 2,8-dihydroxyadenine
|2 NLM
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| 650 |
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7 |
|a 30377-37-8
|2 NLM
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| 650 |
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7 |
|a Adenine Phosphoribosyltransferase
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| 650 |
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|a EC 2.4.2.7
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| 650 |
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|a Adenine
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| 650 |
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|a JAC85A2161
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| 700 |
1 |
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|a Miyakita, H
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Shiramizu, M
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Iwagaki, H
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Ikeda, T
|e verfasserin
|4 aut
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| 773 |
0 |
8 |
|i Enthalten in
|t Hinyokika kiyo. Acta urologica Japonica
|d 1962
|g 38(1992), 5 vom: 09. Mai, Seite 573-7
|w (DE-627)NLM012631779
|x 0018-1994
|7 nnas
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| 773 |
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|g volume:38
|g year:1992
|g number:5
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|g month:05
|g pages:573-7
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|d 38
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