Fetal Niemann-Pick disease type C: Ultrastructural and lipid findings in liver and spleen

The Metabolic Basis of Inherited Disease

1990 • 4,327 citations

Niemann-Pick disease type C

2010 • 1,102 citations

Lysosomes and storage diseases

1973 • 745 citations

The intracellular transport of low density lipoprotein-derived cholesterol is defective in Niemann-Pick type C fibroblasts.

1989 • 306 citations

NIEMANN-PICK DISEASE

1958 • 288 citations

Type C Niemann-Pick disease. Lysosomal accumulation and defective intracellular mobilization of low density lipoprotein cholesterol.

1988 • 230 citations

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

1991 • 225 citations

Group C Niemann‐Pick disease: faulty regulation of low‐density lipoprotein uptake and cholesterol storage in cultured fibroblasts

1987 • 196 citations

A genetic storage disorder in BALB/C mice with a metabolic block in esterification of exogenous cholesterol.

1984 • 188 citations

Niemann‐Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification: A collaborative study on 70 patients

1988 • 183 citations

Microfilament Dysfunction as a Possible Cause of Intrahepatic Cholestasis

1975 • 178 citations

Biochemical studies in niemann-pick disease I. Major sphingolipids of liver and spleen

1983 • 171 citations

Phalloidin-induced hyperplasia of actin filaments in rat hepatocytes.

1975 • 127 citations

Ultrastructure of bile canaliculi, with special reference to the surface coat and the pericanalicular web.

1974 • 115 citations

Phalloidin-induced cholestasis in the rat: Relation to changes in microfilaments

1978 • 114 citations

A NEUROVISCERAL STORAGE DISEASE WITH VERTICAL SUPRANUCLEAR OPHTHALMOPLEGIA, AND ITS RELATIONSHIP TO NIEMANN-PICK DISEASE

1973 • 107 citations

Nine Cases of Sphingomyelin Lipidosis, a New Variant in Spanish-American Children

1977 • 81 citations

Severe familial cholestasis in North American Indian children: A clinical model of microfilament dysfunction?

1981 • 78 citations

Niemann‐Pick disease type C: An update

1991 • 68 citations

Neurovisceral lipidosis compatible with Niemann-Pick disease type C: Morphological and biochemical studies of a late infantile case and enzyme and lipid assays in a prenatal case of the same family

1978 • 59 citations

Prenatal diagnosis of Niemann-Pick type C disease: current strategy from an experience of 37 pregnancies at risk.

1992 • 55 citations

Lysosome lipid storage disorder in NCTR-BALB/c mice. II. Morphologic and cytochemical studies.

1982 • 46 citations

Pericanalicular hepatocytic and bile ductular microfilaments in cholestasis in man.

1980 • 42 citations

Progressive intrahepatic cholestasis (Byler's disease): case report.

1975 • 41 citations

Niemann-Pick Disease Type C

1981 • 39 citations

Infantile-juvenile, slowly progressive lipidosis belonging to the sphingomyelinoses (Niemann-Pick) ? A new type?

1972 • 38 citations

Chlorphentermine-induced ultrastructural changes in liver tissues of four animal species

1973 • 35 citations

The role of microfilaments and of microtubules in taurocholate uptake by isolated rat liver cells

1981 • 35 citations

Liver findings in Niemann-Pic disease type C

1984 • 31 citations

Familial Cholestatic Cirrhosis Associated with Kayser-Fleischer Rings

1980 • 29 citations

Effect of AY-9944, a cholesterol biosynthesis inhibitor, on peripheral nerve myelination.

1970 • 28 citations

Prenatal Niemann-Pick Disease: Biochemical and Histologic Examination of a 19-Gestational Week Fetus

1972 • 26 citations

Niemann‐Pick disease type B: first‐trimester prenatal diagnosis on chorionic villi and biochemical study of a foetus at 12 weeks of development

1985 • 22 citations

NIEMANN-PICK DISEASE AND GIANT CELL TRANSFORMATION OF THE LIVER

1971 • 22 citations

Morphological changes in CNS of rats treated with perhexiline maleate (Pexid)

1978 • 20 citations

Niemann-Pick type C disease and early cholestasis in three brothers.

1980 • 20 citations

Case Report

1988 • 17 citations

Maladie de Niemann-Pick type ?C? de Crocker

1976 • 16 citations

[Early infantile, cholestatic, rapidly-fatal form of type C sphingomyelinosis. 2 cases].

1979 • 14 citations

Prenatal diagnosis of Niemann-Pick disease type C

1992 • 12 citations

Niemann-Pick Variant Lipidosis Presenting as “Neonatal Hepatitis”

1986 • 11 citations

Sphingomyelin lipidosis variant with cirrhosis in the pediatric age group.

1986 • 9 citations

Ito cells in lysosomal storage disorders

1984 • 8 citations

[Ultrastructural study of the liver in Niemann-Pick disease type C].

1989 • 2 citations