Early-lethal pulmonary form of Niemann-Pick type C disease belonging to a second, rare genetic complementation group

European Journal of Pediatrics

Volumn 157, Issue 1, 1998, Pages 45-49

  Schofer, O ^a   Mischo, B ^a   Puschel W ^b   Harzer, K ^c   Vanier, M T ^d  

^a Kinderklinik Kohlhof   (Germany)

^b SAARLAND UNIVERSITY   (Germany)

^c UNIVERSITY OF TÜBINGEN   (Germany)

^d CENTRE HOSPITALIER LYON SUD   (France)

Author keywords

Complementation studies; Genetic heterogeneity; Niemann Pick disease type C; Pulmonary form

Indexed keywords

ARTICLE; CASE REPORT; CELL HYBRIDIZATION; CHOLESTEROL METABOLISM; DISEASE CLASSIFICATION; FEMALE; GENETIC COMPLEMENTATION; HEPATOSPLENOMEGALY; HUMAN; INFANT; LYSOSOME; NIEMANN PICK DISEASE; PRIORITY JOURNAL; RESPIRATORY FAILURE;

BIOPSY, NEEDLE; FATAL OUTCOME; FEMALE; GENETIC COMPLEMENTATION TEST; HUMANS; INFANT; LUNG DISEASES, INTERSTITIAL; NIEMANN-PICK DISEASES; RESPIRATORY INSUFFICIENCY;

EID: 0031882520     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004310050764     Document Type: Article

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