Niemann-Pick disease type C: diagnosis and outcome in children, with particular reference to liver disease.

[1]  R. Rousson,et al.  Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing. , 1991, Biochimica et biophysica acta.

[2]  G. Mieli-Vergani,et al.  Fetal ascites: an unusual presentation of Niemann-Pick disease type C. , 1989, Archives of disease in childhood.

[3]  R. Rousson,et al.  DIAGNOSIS OF NIEMANN-PICK DISEASE TYPE C ON CHORIONIC VILLUS CELLS , 1989, The Lancet.

[4]  R. Brady,et al.  Type C Niemann-Pick disease. Lysosomal accumulation and defective intracellular mobilization of low density lipoprotein cholesterol. , 1988, The Journal of biological chemistry.

[5]  J. Watkins,et al.  Sphingomyelin lipidosis variant with cirrhosis in the pediatric age group. , 1986, Archives of pathology & laboratory medicine.

[6]  R. Brady,et al.  A defect in cholesterol esterification in Niemann-Pick disease (type C) patients. , 1985, Proceedings of the National Academy of Sciences of the United States of America.

[7]  D. Taylor,et al.  Retinal abnormalities in ophthalmoplegic lipidosis. , 1981, The British journal of ophthalmology.

[8]  W. Kleijer,et al.  PRENATAL DIAGNOSIS OF NIEMANN-PICK DISEASE TYPE A USING CHROMOGENIC SUBSTRATE , 1977, The Lancet.

[9]  M. Hadchouel,et al.  Alpha1-antitrypsin deficiency and liver disease in children: phenotypes, manifestations, and prognosis. , 1976, Pediatrics.

[10]  B. Neville,et al.  A neurovisceral storage disease with vertical supranuclear ophthalmoplegia, and its relationship to Niemann-Pick disease. A report of nine patients. , 1973, Brain : a journal of neurology.

[11]  A. Williams.  Cysticercosis cerebri mistaken for cerebral syphilis; report of a case. , 1948, Lancet.

[12]  B. Lake.  Metabolic Disorders: General Considerations , 1989 .

[13]  B. Lake,et al.  Biliary atresia and meconium ileus associated with Niemann-Pick disease. , 1988, Journal of pediatric gastroenterology and nutrition.