CLINICAL AND GENETIC SPECIAL FEATURES OF NIEMANN-PICK DISEASE, TYPE C

Autor:	T. Yu. Proshlyakova, G. E. Rudenskaya, Svetlana V. Mikhailova, E. Yu. Zakharova
Rok vydání:	2012
Předmět:	congenital hereditary and neonatal diseases and abnormalities Genetic diversity Acquired diseases Niemann–Pick disease type C business.industry Clinical course nutritional and metabolic diseases General Medicine Disease medicine.disease hemic and lymphatic diseases Immunology medicine NPC1 business
Zdroj:	Annals of the Russian academy of medical sciences. 67:60-65
ISSN:	2414-3545 0869-6047
DOI:	10.15690/vramn.v67i12.483
Popis:	Niemann-Pick disease, type C is a rare hereditary disorder of the group of lisosomal storage diseases, caused by mutations in the genes NPC1 or NPC2. Depending on the onset age, several clinical forms of this disease, which differs by manifestation age, main clinical signs and clinical course, are distinguished. Niemann-Pick disease type C can imitate other hereditary and acquired diseases, which complicates its early diagnostics. Clinical and genetic diversity of this disorder, considered on the clinical cases diagnosed at the FSI «RCMG» of RAMS, are discussed in this review.
Databáze:	OpenAIRE
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