Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing

This publication has 26 references indexed in Scilit:

• Sonographisch echodichte Milztumoren: Knotige Manifestation eines Morbus Niemann-Pick Typ C
  Ultraschall in der Medizin - European Journal of Ultrasound, 1990
• Correction of sphingomyelinase deficiency in Niemann‐Pick type C fibroblasts by removal of lipoprotein fraction from culture media
  Journal of Inherited Metabolic Disease, 1988
• Niemann‐Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification: A collaborative study on 70 patients
  Clinical Genetics, 1988
• Group C Niemann‐Pick disease: faulty regulation of low‐density lipoprotein uptake and cholesterol storage in cultured fibroblasts
  The FASEB Journal, 1987
• Niemann‐Pick disease type B: first‐trimester prenatal diagnosis on chorionic villi and biochemical study of a foetus at 12 weeks of development
  Clinical Genetics, 1985
• Cholesterol and 7 dehydrocholesterol inhibit the in situ degradation of sphingomyelin by cultured human fibroblasts
  Biochemical and Biophysical Research Communications, 1983
• [19] Receptor-mediated endocytosis of low-density lipoprotein in cultured cells
  Published by Elsevier ,1983
• The assay of sphingolipid hydrolases in white blood cells with labelled natural substrates
  Clinica Chimica Acta; International Journal of Clinical Chemistry, 1979
• Acid esterase activity in cultured skin fibroblasts and amniotic fluid cells using 4-methylumbelliferyl palmitate
  Clinica Chimica Acta; International Journal of Clinical Chemistry, 1978
• Determination of protein: A modification of the lowry method that gives a linear photometric response
  Analytical Biochemistry, 1972