A case report of 'variant' biochemical phenotype of Niemann-Pick C disease and a discussion of therapeutic options;Przypadek tzw. wariantu choroby niemanna-picka typu C i omówienie propozycji terapeutycznych

Neurologia i Neurochirurgia Polska

Volumn 47, Issue 1, 2013, Pages 86-89

  Jamrozik, Zygmunt ^a   Szczudlik, Piotr ^a   Ługowska, Agnieszka ^b   Weiß, Stefan ^c   Rolfs, Arndt ^c   Czartoryska, Barbara ^b   Kwieciński, Hubert ^a  

^a MEDICAL UNIVERSITY OF WARSAW   (Poland)

^b INSTITUTE OF PSYCHIATRY AND NEUROLOGY   (Poland)

^c UNIVERSITY OF ROSTOCK   (Germany)

Author keywords

Heterozygote mutation; Miglustat; Niemann Pick type C

Indexed keywords

ALPHA GALACTOSIDASE; ALPHA MANNOSIDASE; ALPHA TOCOPHEROL; BETA GALACTOSIDASE; CEREBROSIDE SULFATASE; CHOLESTEROL; EZETIMIBE; GLUCOSAMINIDASE; MIGLUSTAT; SIMVASTATIN; SPHINGOMYELIN PHOSPHODIESTERASE; TRIACYLGLYCEROL; VALPROIC ACID;

ADULT; ARTICLE; ATAXIA; CASE REPORT; CEREBELLUM ATROPHY; ECHOGRAPHY; GAIT; GENE MUTATION; HEPATOSPLENOMEGALY; HUMAN; MALE; MILD COGNITIVE IMPAIRMENT; NEUROLOGIC EXAMINATION; NIEMANN PICK DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PSYCHOLOGIC TEST; TONIC CLONIC SEIZURE;

EID: 84875074590     PISSN: 00283843     EISSN: 18974260     Source Type: Journal    
DOI: 10.5114/ninp.2012.31548     Document Type: Article

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