KONEČNÁ, Petra, Dagmar PROCHÁZKOVÁ, Zdeněk DOLEŽEL, Jarmila SKOTÁKOVÁ and Elies HOEFLSLOOT. Wolfram syndrome: new mutation case report. In 12th international congress of inborn errors of metabolism, Barcelona, Journal of Inherited Metabolic Diseases, s. 337. 2013. ISSN 0141-8955. Available from: https://dx.doi.org/10.1007/s10545-013-9635-x.
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Basic information
Original name Wolfram syndrome: new mutation case report
Name in Czech Wolframův syndrom: kazuistika-nová mutace
Authors KONEČNÁ, Petra, Dagmar PROCHÁZKOVÁ, Zdeněk DOLEŽEL, Jarmila SKOTÁKOVÁ and Elies HOEFLSLOOT.
Edition 12th international congress of inborn errors of metabolism, Barcelona, Journal of Inherited Metabolic Diseases, s. 337, 2013.
Other information
Original language English
Type of outcome Conference abstract
Field of Study 30209 Paediatrics
Country of publisher Czech Republic
Confidentiality degree is not subject to a state or trade secret
WWW URL
Impact factor Impact factor: 4.138
Organization unit Faculty of Medicine
ISSN 0141-8955
Doi http://dx.doi.org/10.1007/s10545-013-9635-x
Keywords (in Czech) Wolframův syndrom
Keywords in English Wolfram syndrome
Tags International impact, Reviewed
Changed by Changed by: doc. MUDr. Dagmar Procházková, Ph.D., učo 45686. Changed: 25/10/2013 09:45.
Abstract
we present an unussual case of diabetes mellitus in childhood: Wolfram syndrome
Abstract (in Czech)
autoři prezentují vzácnou příčinu diabetu mellitu 1. typu v dětství-Wolframův syndrom
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