Juvenile dystonic lipidosis (variant of Niemann-Pick disease type C)

Quantitive estimation of sialic acids

1957 • 2,782 citations

The Metabolic Basis of Inherited Disease

1983 • 757 citations

A procedure for the quantitative isolation of brain gangliosides

1980 • 720 citations

Diagnosis of Gaucher's Disease and Niemann-Pick Disease with Small Samples of Venous Blood

1967 • 290 citations

NIEMANN-PICK DISEASE

1958 • 288 citations

Differentiation of β-glucocerebrosidase from β-glucosidase in human tissues using sodium taurocholate

1976 • 200 citations

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

1983 • 171 citations

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

1973 • 107 citations

I-Cell disease (Mucolipidosis II)

1975 • 102 citations

Ocular Motor Signs in Some Metabolic Diseases

1981 • 96 citations

Niemann-Pick Disease, Type C: Evidence for the Deficiency of an Activating Factor Stimulating Sphingomyelin and Glucocerebroside Degradation

1980 • 72 citations

Isoenzymes of sphingomyelinase and the genetic defect in Niemann-Pick disease, type C

1974 • 67 citations

The assay of sphingolipid hydrolases in white blood cells with labelled natural substrates

1979 • 66 citations

Sphingomyelinase activities of various human tissues in control subjects and in Niemann-Pick disease — development and evaluation of a microprocedure

1980 • 62 citations

The juvenile form of Niemann-Pick disease.

1967 • 46 citations

Paired helical filaments in neurovisceral lipidosis (juvenile dystonic lipidosis)

1978 • 45 citations

Electron Microscopy of Storage Cytosomes in Kufs' Disease

1970 • 42 citations

POLYUNSATURATED FATTY ACID LIPIDOSIS

1975 • 38 citations

Adult dystonic lipidosis

1982 • 30 citations

Juvenile Niemann-Pick Disease With Vertical Supranuclear Ophthalmoplegia

1981 • 23 citations

Juvenile dystonic lipidosis.

1969 • 19 citations

Adult neurovisceral lipidosis compatible with Niemann-Pick disease type C

1983 • 16 citations

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

1979 • 14 citations

Morbus Niemann-Pick Typ C (subakute neuroviscerale Lipidose)

1981 • 4 citations