Diagnosis of Glycosphingolipidoses by Urinary-Sediment Analysis (Q71767839)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:5548035%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

title

Diagnosis of glycosphingolipidoses by urinary-sediment analysis (English)

1 reference

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21 October 2019

Diagnosis of Glycosphingolipidoses by Urinary-Sediment Analysis (English)

1 reference

https://api.crossref.org/works/10.1056/NEJM197104082841401

1 June 2023

1

Desnick RJ

1 reference

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21 October 2019

author name string

Dawson G

2

1 reference

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21 October 2019

Desnick SJ

3

1 reference

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21 October 2019

Sweeley CC

4

1 reference

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21 October 2019

Krivit W

5

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21 October 2019

language of work or name

English

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publication date

1 April 1971

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21 October 2019

8 April 1971

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=5548035

full work available at URL

1 June 2023

http://www.nejm.org/doi/pdf/10.1056/NEJM197104082841401

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The New England Journal of Medicine

1 June 2023

published in

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21 October 2019

volume

284

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21 October 2019

issue

14

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21 October 2019

page(s)

739-744

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21 October 2019

1

1 reference

https://api.crossref.org/works/10.1056/NEJM197104082841401

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

1 June 2023

2

1 reference

https://api.crossref.org/works/10.1056/NEJM197104082841401

Lactosyl Ceramidosis: Catabolic Enzyme Defect of Glycosphingolipid Metabolism

1 June 2023

3

1 reference

https://api.crossref.org/works/10.1056/NEJM197104082841401

Deficient hexosaminidase activity in an exceptional case of Tay-Sachs disease with additional storage of kidney globoside in visceral organs

1 June 2023

4

1 reference

https://api.crossref.org/works/10.1056/NEJM197104082841401

Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease

1 June 2023

5

1 reference

https://api.crossref.org/works/10.1056/NEJM197104082841401

Enzymatic Defect in Fabry's Disease

1 June 2023

6

1 reference

https://api.crossref.org/works/10.1056/NEJM197104082841401

Galactosylgalactosylglucosylceramide: Galactosyl hydrolase in normal human plasma and its absence in patients with fabry's disease

1 June 2023

7

1 reference

https://api.crossref.org/works/10.1056/NEJM197104082841401

Fabry's Disease: Alpha-Galactosidase Deficiency

1 June 2023

8

1 reference

https://api.crossref.org/works/10.1056/NEJM197104082841401

A CONTROLLED STUDY OF ENZYMIC ACTIVITIES IN THREE HUMAN DISORDERS OF GLYCOLIPID METABOLISM

1 June 2023

9

1 reference

https://api.crossref.org/works/10.1056/NEJM197104082841401

Generalized gangliosidosis: beta-galactosidase deficiency.

1 June 2023

10

1 reference

https://api.crossref.org/works/10.1056/NEJM197104082841401

Demonstration of an alteration of ganglioside metabolism in Tay-Sachs disease

1 June 2023

11

1 reference

https://api.crossref.org/works/10.1056/NEJM197104082841401

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

1 June 2023

12

1 reference

https://api.crossref.org/works/10.1056/NEJM197104082841401

The use of white cells as a source of diagnostic material for lipid storage diseases

1 June 2023

13

1 reference

https://api.crossref.org/works/10.1056/NEJM197104082841401

Krabbe's Globoid Cell Leukodystrophy: Deficiency of Galactocerebrosidase in Serum, Leukocytes, and Fibroblasts

1 June 2023

14

1 reference

https://api.crossref.org/works/10.1056/NEJM197104082841401

Sphingolipid hydrolases in brain tissue of patients with generalized gangliodosis

1 June 2023

15

1 reference

https://api.crossref.org/works/10.1056/NEJM197104082841401

Acid glycosidases in mucopolysaccharidoses fibroblasts

1 June 2023

16

1 reference

https://api.crossref.org/works/10.1056/NEJM197104082841401

REFSUM'S DISEASE (HEREDOPATHIA ATACTICA POLYNEURITIFORMIS): AN INBORN ERROR OF LIPID METABOLISM WITH STORAGE OF 3,7,11,15-TETRAMETHYL HEXADECANOIC ACID. I. REPORT OF A CASE.

1 June 2023

18

1 reference

https://api.crossref.org/works/10.1056/NEJM197104082841401

A Reliable Rapid Screening Test for Sulphatide Lipidosis

1 June 2023

19

1 reference

https://api.crossref.org/works/10.1056/NEJM197104082841401

Verhandlungen der Deutschen Gesellschaft fur Pathologie

1 June 2023

20

18

59

Siegmund

1921

1 reference

https://api.crossref.org/works/10.1056/NEJM197104082841401

1 June 2023

21

9

106

Austin

1961

1 reference

https://api.crossref.org/works/10.1056/NEJM197104082841401

Metachromatic leucodystrophy-a generalized lipidosis. Determination of sulfatides in urine, blood plasma and cerebrospinal fluid

1 June 2023

23

1 reference

https://api.crossref.org/works/10.1056/NEJM197104082841401

Angiokeratoma corporis diffusum (Fabry). Lipid chemical studies of urinary sediment

1 June 2023

26

1 reference

https://api.crossref.org/works/10.1056/NEJM197104082841401

Lipoid chemical studies on angiokeratoma corporis diffusum (Fabry's syndrome)

1 June 2023

27

1 reference

https://api.crossref.org/works/10.1056/NEJM197104082841401

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

1 June 2023

28

1 reference

https://api.crossref.org/works/10.1056/NEJM197104082841401

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

1 June 2023

30

1 reference

https://api.crossref.org/works/10.1056/NEJM197104082841401

Determination of glycosphingolipid structures by mass spectrometry

1 June 2023

31

1 reference

https://api.crossref.org/works/10.1056/NEJM197104082841401

Metachromatic from of diffuse cerebral sclerosis. II. Diagnosis during life by isolation of metachromatic lipids from urine

1 June 2023

34

1 reference

https://api.crossref.org/works/10.1056/NEJM197104082841401

The isolation and partial characterization of glycolipids of normal human leucocytes

1 June 2023

35

1 reference

https://api.crossref.org/works/10.1056/NEJM197104082841401

Carbohydrate components of bovine-kidney gangliosides

1 June 2023

36

1 reference

https://api.crossref.org/works/10.1056/NEJM197104082841401

1 June 2023

37

18

393

Clark

1970

1 reference

https://api.crossref.org/works/10.1056/NEJM197104082841401

Enzyme Replacement in Fabry's Disease, an Inborn Error of Metabolism

1 June 2023

38

1 reference

https://api.crossref.org/works/10.1056/NEJM197104082841401

1 June 2023

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:5548035%20AND%20SRC:MED&resulttype=core&format=json

21 October 2019

1 reference