(Q51121541)

30 March 2018

title

Lactosylceramidosis: Lactosylceramide galactosyl hydrolase deficiency and accumulation of lactosylceramide in cultured skin fibroblasts (English)

1 reference

https://api.crossref.org/works/10.1016/S0022-3476(71)80151-8

3 June 2023

author name string

G. Dawson

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5567965

3 June 2023

R. Matalon

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5567965

3 June 2023

A. O. Stein

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5567965

3 June 2023

language of work or name

English

0 references

publication date

1 September 1971

1 reference

30 March 2018

full work available at URL

https://api.elsevier.com/content/article/PII:S0022347671801518?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/S0022-3476(71)80151-8

https://api.elsevier.com/content/article/PII:S0022347671801518?httpAccept=text/plain

3 June 2023

1 reference

https://api.crossref.org/works/10.1016/S0022-3476(71)80151-8

The Journal of Pediatrics

3 June 2023

published in

1 reference

30 March 2018

volume

79

1 reference

30 March 2018

issue

3

1 reference

30 March 2018

page(s)

423-429

1 reference

30 March 2018

Deficiency of sphingomyelin-cleaving enzyme activity in tissue cultures derived from patients with Niemann-Pick disease

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Glycolipid and mucopolysaccharide abnormality in fibroblasts of fabry's disease.

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Tay-Sachs Disease: Generalized Absence of a Beta-D- N -Acetylhexosaminidase Component

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β-Galactosidase in Tissue Culture Derived from Human Skin and Bone Marrow: Enzyme defect in GM1 Gangliosidosis

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Metachromatic leukodystrophy: arylsulfatase-A deficiency in skin fibroblast cultures

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Lipid abnormalities in a variant of the Hurler syndrome

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Lactosyl Ceramidosis: Catabolic Enzyme Defect of Glycosphingolipid Metabolism

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Hurler's syndrome: biosynthesis of acid mucopolysaccharides in tissue culture

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The simultaneous estimation of 6-deoxy-l-galactose (l-fucose), d-mannose, d-galactose, 2-acetamido-2-deoxy-d-glucose (N-acetyl-d-glucosamine) and N-acetylneuraminic acid (sialic acid) in glycopeptides and glycoproteins

7 January 2021

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Lactosylceramide galactosidase: Comparison with other sphingolipid hydrolases in developing rat brain

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The abnormalities of lysosomal enzymes in mucopolysacc- haridoses.

7 January 2021

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An improved procedure for starch-gel electrophoresis: further variations in the serum proteins of normal individuals

7 January 2021

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The cellular distribution of some rat-kidney glycosidases

7 January 2021

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Determination of glycosphingolipid structures by mass spectrometry

7 January 2021

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The Hurler and Hunter syndromes

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Hurler's syndrome: deficiency of a specific beta galactosidase isoenzyme

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Acid glycosidases in mucopolysaccharidoses fibroblasts

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Beta-galactosidases in fibroblasts: Hurler and Sanfilippo syndromes

7 January 2021

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Detection of the defect of Gaucher's disease and its carrier state in peripheral-blood leucocytes

7 January 2021

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Generalized gangliosidosis: beta-galactosidase deficiency.

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Globoid cell leucodystrophy (Krabbe's disease): deficiency of galactocerebroside beta-galactosidase

7 January 2021

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Variation of beta-N-acetylhexosaminidase-pattern in Tay-Sachs disease

7 January 2021

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A simple method for the isolation and purification of total lipides from animal tissues

7 January 2021

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1 reference

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3 June 2023

Identifiers

1 reference

30 March 2018

1 reference

30 March 2018