Prenatal diagnosis of Niemann-Pick disease type C
- 30 June 1992
- journal article
- case report
- Published by Elsevier in Clinica Chimica Acta; International Journal of Clinical Chemistry
- Vol. 208 (3) , 173-181
- https://doi.org/10.1016/0009-8981(92)90074-z
Abstract
No abstract availableKeywords
This publication has 12 references indexed in Scilit:
- Niemann‐Pick disease type C: An updateJournal of Inherited Metabolic Disease, 1991
- Type C Niemann-Pick disease: Documentation of abnormal LDL processing in lymphocytesBiochemical and Biophysical Research Communications, 1990
- DIAGNOSIS OF NIEMANN-PICK DISEASE TYPE C ON CHORIONIC VILLUS CELLSThe Lancet, 1989
- The intracellular transport of low density lipoprotein-derived cholesterol is defective in Niemann-Pick type C fibroblasts.The Journal of cell biology, 1989
- Niemann‐Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification: A collaborative study on 70 patientsClinical Genetics, 1988
- [19] Receptor-mediated endocytosis of low-density lipoprotein in cultured cellsPublished by Elsevier ,1983
- Somatic cell hybridisation studies showing different gene mutations in Niemann-Pick variantsHuman Genetics, 1980
- PRENATAL DIAGNOSIS OF NIEMANN-PICK DISEASE TYPE A USING CHROMOGENIC SUBSTRATEThe Lancet, 1977
- Quantitative two-dimensional thin-layer chromatography of blood phospholipidsClinica Chimica Acta; International Journal of Clinical Chemistry, 1969
- THE DISTRIBUTION AND CHEMICAL COMPOSITION OF ULTRACENTRIFUGALLY SEPARATED LIPOPROTEINS IN HUMAN SERUMJournal of Clinical Investigation, 1955