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Huntington's disease, case report (CROSBI ID 103730)

Prilog u časopisu | stručni rad

Ivkošić, Ante ; Titlić, Marina ; Tadić, Tade ; Erceg, Ivana ; Marović, Anton ; Primorac, Dragan Huntington's disease, case report // Neurologia i neurochirurgia Polska, 37 (2003), 1; 235-241-x

Podaci o odgovornosti

Ivkošić, Ante ; Titlić, Marina ; Tadić, Tade ; Erceg, Ivana ; Marović, Anton ; Primorac, Dragan

engleski

Huntington's disease, case report

Huntington's disease (HD) is a chronic neurodegenerative disorder, characterized by the following triad of clinical hallmarks: chorea, cognitive impairment and behavior disorders [8]. In 1993 the gene responsible for HD, whose mutation results in HD, was identified and mapped on the chromosome 4p16.3 [6]. The mutation is a characteristic expansion of a CAG nucleotide triplet. In this paper we present a 36-years-old female patient with HD who was submitted to a complete diagnostic procedure including genetic testing. Her pedigree was reconstructed using available medical documentation and tracing other members of her family.

Huntington's disease

nije evidentirano

nije evidentirano

nije evidentirano

nije evidentirano

nije evidentirano

nije evidentirano

Podaci o izdanju

37 (1)

2003.

235-241-x

objavljeno

0028-3843

Povezanost rada

Temeljne medicinske znanosti

Indeksiranost