Maladie de Niemann-Pick type C : aspects historiques et actuels, diagnostic biochimique et génétique
Author:
Publisher
Elsevier BV
Subject
Pediatrics, Perinatology and Child Health
Reference22 articles.
1. Niemann-Pick disease type C;Vanier;Clin Genet,2003
2. A defect in cholesterol esterification in Niemann-Pick disease (type C) patients;Pentchev;Proc Natl Acad Sci U S A,1985
3. Group C Niemann-Pick disease: faulty regulation of low-density lipoprotein uptake and cholesterol storage in cultured fibroblasts;Pentchev;FASEB J,1987
4. The Niemann-Pick C lesion and its relationship to the intracellular distribution and utilization of LDL cholesterol;Pentchev;Biochim Biophys Acta,1994
5. Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification. A collaborative study on 70 patients;Vanier;Clin Genet,1988
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3. Felnőttkori B-típusú Niemann–Pick-betegség szemészeti manifesztációja;Orvosi Hetilap;2023-11-19
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