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Globoid cell leukodystrophy

Known as: Globoid Cell Leukoencephalopathies, Galactosylceramide Lipidosis, Galactosylceramidase Deficiency Diseases 
An autosomal recessive metabolic disorder caused by a deficiency of GALACTOSYLCERAMIDASE leading to intralysosomal accumulation of galactolipids such… 
National Institutes of Health

Related topics

Related topics

32 relations
Autosomal recessive inheritanceConditions tested for in this newborn screening study:ID:Pt:Bld.dot:NomDemyelinationDevelopmental regression

Narrower (2)

Infantile Globoid Cell LeukodystrophyKRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY

Broader (2)

LeukodystrophyLysosomal Storage Diseases

Papers overview

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1986
1986
Urinary glycosaminoglycans, sialic acid and lysosomal enzymes increase in nonalbuminuric diabetic patients.
Urinary excretion of glycosaminoglycans (GAGS) and sialic acid (SA), as well as the activity of two renal enzymes related to… 
1981
1981
Congenital muscle fiber-type disproportion in Krabbe's leukodystrophy.
Progressive spasticity, blindness, loss of skills, and neuropathy developed in a 4.5-month-old boy. When examined at 13 months… 
1976
1976
Purification and characterization of an endo-beta-galactosidase produced by Diplococcus pneumoniae.
An endo-beta-galactosidase acting on blood group A and B substances was found in the culture fluid of Diplococcus pneumoniae. The… 
1976
1976
Purification and properties of arylsulphatase A from rabbit testis.
Rabbit testis arylsulphatase A was purified 140-fold with a recovery of 20% from detergent extracts of an acetone-dried powder by… 
1974
1974
Juvenile GM1 gangliosidosis. Occurrence with absence of two beta-galactosidase components.
A 12-year-old girl with G M1 gangliosidosis had been well until 5 years of age when she first developed spasticity and slow… 
1969
1969
Beta-D-galactosidase in human urine: deficiency in generalized gangliosidosis.
Abstract The details of a colorimetric method for the measurement of both β-d-galactosidase and N-acetyl-β-d-glucosaminidase… 
Highly Cited
1965
Highly Cited
1965
POSTNATAL DEVELOPMENT OF BETA-GALACTOSIDASE ACTIVITY IN THE SMALL INTESTINE OF THE RAT. EFFECT OF ADRENALECTOMY AND DIET.
1. beta-Galactosidase activity was studied in homogenates of the proximal and distal thirds of the small intestine from adult and… 
1963
1963
The correlation of gas-liquid chromatographic behaviour and structure of steroids.
1. Extracts prepared from Epidinium ecaudatum by two disintegration procedures contain oc-galactosidase and isomaltase activities… 
1961
1961
Localization of acid phosphatase, nonspecific esterases and beta-D-galactosidase in parotid and submaxillary glands of domestic and laboratory animals.
1960
1960
The action of fast carbon and heavier ions on biological materials. I. The inactivation of dried enzymes.
Experiments are described on the inactivation of the dry enzymes beta - galactosidase and trypsin by carbon, oxygen, and fluorine…