Observational, retrospective study of a large cohort of patients with Niemann-Pick disease type C in the Czech Republic: A surprisingly stable diagnostic rate spanning almost 40 years

Orphanet Journal of Rare Diseases

Volumn 9, Issue 1, 2014, Pages

  Jahnova, Helena ^a   Dvorakova, Lenka ^a   Vlaskova, Hana ^a   Hulkova, Helena ^a   Poupetova, Helena ^a   Hrebicek, Martin ^a   Jesina, Pavel ^a  

^a General Teaching Hospital and 1st Medical Faculty of Charles University   (Czech Republic)

Author keywords

Bone marrow smear (BMS); Cholesterol; Diagnosis; Filipin; Niemann Pick disease type C (NPC); NPC1; NPC2

Indexed keywords

CHITOTRIOSIDASE; FILIPIN;

ADULT; AGED; ARTICLE; BONE MARROW BIOPSY; CHILD; CHOLESTEROL ESTERIFICATION; COHORT ANALYSIS; CZECH REPUBLIC; DIAGNOSTIC TEST ACCURACY STUDY; FEMALE; FOLLOW UP; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC COUNSELING; HISTOPATHOLOGY; HUMAN; IMMUNOHISTOCHEMISTRY; INFANT; LIVER BIOPSY; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; NIEMANN PICK DISEASE; NPC1 GENE; NPC2 GENE; OBSERVATIONAL STUDY; ONSET AGE; PATHOGENESIS; PRESCHOOL CHILD; RETROSPECTIVE STUDY; SCHOOL CHILD; SENSITIVITY AND SPECIFICITY; YOUNG ADULT; NIEMANN-PICK DISEASE, TYPE C; PATHOPHYSIOLOGY;

CZECH REPUBLIC; HUMANS; NIEMANN-PICK DISEASE, TYPE C; RETROSPECTIVE STUDIES;

EID: 84907966032     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/s13023-014-0140-6     Document Type: Article

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