Niemann-Pick disease type C: Diagnosis and outcome in children, with particular reference to liver disease
- 1 August 1993
- journal article
- Published by Elsevier in The Journal of Pediatrics
- Vol. 123 (2), 242-247
- https://doi.org/10.1016/s0022-3476(05)81695-6
Abstract
No abstract availableKeywords
This publication has 12 references indexed in Scilit:
- Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processingBiochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1991
- Fetal ascites: an unusual presentation of Niemann-Pick disease type C.Archives of Disease in Childhood, 1989
- DIAGNOSIS OF NIEMANN-PICK DISEASE TYPE C ON CHORIONIC VILLUS CELLSThe Lancet, 1989
- Case ReportJournal of Pediatric Gastroenterology and Nutrition, 1988
- A defect in cholesterol esterification in Niemann-Pick disease (type C) patients.Proceedings of the National Academy of Sciences, 1985
- International symposium on Niemann-Pick diseaseEuropean Journal of Pediatrics, 1983
- Retinal abnormalities in ophthalmoplegic lipidosis.British Journal of Ophthalmology, 1981
- PRENATAL DIAGNOSIS OF NIEMANN-PICK DISEASE TYPE A USING CHROMOGENIC SUBSTRATEThe Lancet, 1977
- Alpha1-Antitrypsin Deficiency and Liver Disease in Children: Phenotypes, Manifestations, and PrognosisPediatrics, 1976
- A NEUROVISCERAL STORAGE DISEASE WITH VERTICAL SUPRANUCLEAR OPHTHALMOPLEGIA, AND ITS RELATIONSHIP TO NIEMANN-PICK DISEASEBrain, 1973