Combined Adenine Phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate Sulfatase Deficiency.
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F99%3A00000796" target="_blank" >RIV/00216208:11110/99:00000796 - isvavai.cz</a>
Result on the web
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DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
Combined Adenine Phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate Sulfatase Deficiency.
Original language description
APRT deficiency, GALNS deficiency, 2,8-DHA urolithiasis, Morquio disease A, mutation analysis.
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FP - Other medical fields
OECD FORD branch
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Result continuities
Project
<a href="/en/project/GA304%2F97%2F1072" target="_blank" >GA304/97/1072: New hydrophilic materials used in biology, medicine and pharmacology.</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>Z - Vyzkumny zamer (s odkazem do CEZ)
Others
Publication year
1999
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Molecular Genetics and Metabolism
ISSN
1096-7172
e-ISSN
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Volume of the periodical
68
Issue of the periodical within the volume
68
Country of publishing house
US - UNITED STATES
Number of pages
8
Pages from-to
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UT code for WoS article
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EID of the result in the Scopus database
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