(Q38720023)

5 September 2017

1 reference

title

47 Enzymic diagnosis of sphingolipidoses (English)

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

26 March 2022

Enzymic diagnosis of sphingolipidoses (English)

1 reference

PubMed ID

26837

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A26837

26 March 2022

author name string

K. Suzuki

1

1 reference

PubMed ID

26837

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A26837

26 March 2022

language of work or name

English

0 references

publication date

1 January 1978

1 reference

5 September 2017

Methods in Enzymology

1 reference

5 September 2017

50

1 reference

5 September 2017

456-488

1 reference

Deficient Ganglioside Biosynthesis: a novel human sphingolipidosis

5 September 2017

1

187

68

Fishman

1975

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

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

26 March 2022

4

171

73

Suzuki

1971

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

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

26 March 2022

5

25

331

Snyder

1969

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

Detection of Tay-Sachs disease heterozygotes by assay of hexosaminidase A in serum and leukocytes

26 March 2022

7

78

643

Suzuki

1971

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

Farber's lipogranulomatosis. Report of a case and demonstration of an excess of free ceramide and ganglioside

26 March 2022

9

47

869

Moser

1969

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

Ceramidase Deficiency in Farber's Disease (Lipogranulomatosis)

26 March 2022

10

178

1100

Sugita

1972

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

Ceramidase and ceramide synthesis in human kidney and cerebellum. Description of a new alkaline ceramidase

26 March 2022

11

398

125

Sugita

1975

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

Diagnosis of lipogranulomatosis (Farber disease) by use of cultured fibroblasts

26 March 2022

12

89

59

Dulaney

1976

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

The cerebral defect in Tay-Sachs disease and Niemann-Pick disease

26 March 2022

18

7

69

Crocker

1961

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

Diagnosis of gaucher's disease and niemann-pick disease with small samples of venous blood

26 March 2022

19

155

86

Kampine

1967

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

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

26 March 2022

20

34

582

Sloan

1969

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

A Practical Chromogenic Procedure for the Detection of Homozygotes and Heterozygous Carriers of Niemann-Pick Disease

26 March 2022

Synthesis of 2-N-(Hexadecanoyl)-amino-4-nitrophenyl phosphorylcholine-hydroxide, a chromogenic substrate for assaying sphingomyelinase activity

23

volume

293

0 references

24

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

A Simple Chemical Method for Labelling Phosphatidylcholine and Sphingomyelin in the Choline Moiety

24 October 2022

25

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

In utero diagnosis of globoid cell leukodystrophy (Krabbe's disease)

24 October 2022

28

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

A practical chromogenic procedure for the diagnosis of Krabbe's disease

24 October 2022

29

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

Possible misdiagnosis of Krabbe disease

24 October 2022

32

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

Globoid cell leukodystrophy: Additional deficiency of psychosine galactosidase

24 October 2022

33

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

Galactosylsphingosine galactosyl hydrolase in rat brain: probable identity with galactosylceramide galactosyl hydrolase.

24 October 2022

34

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

Deficiency of monogalactosyl diglyceride β-galactosidase activity in Krabbe's disease

24 October 2022

35

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

An improved method for the identification of patients and carriers of Krabbe's disease

24 October 2022

38

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

Substrate specificities of the two genetically distinct human brain β-galactosidases

24 October 2022

39

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

EVIDENCE FOR THE GENETIC BLOCK IN METACHROMATIC LEUCODYSTROPHY (ML).

24 October 2022

43

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

Metachromatic form of diffuse cerebral sclerosis. V. The nature and significance of low sulfatase activity: a controlled study of brain, liver and kidney in four patients with metachromatic leukodystrophy (MLD).

24 October 2022

44

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

Kidney glycolipids in late infantile metachromatic leucodystrophy.

24 October 2022

45

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

The assay of arylsulphatases A and B in human urine

24 October 2022

47

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

Metachromatic Leukodystrophy: Diagnosis with Samples of Venous Blood

24 October 2022

48

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

Arylsulphatases A and B of human leucocytes: Specific inhibitors and electrophoretic characterization

24 October 2022

49

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

Studies on sulphatases. 21. The anomalous kinetics of arylsulphatase A of human tissues: the anomalies

24 October 2022

50

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

Intrauterine Diagnosis: Comparative Enzymology of Cells Cultivated from Maternal Skin, Fetal Skin, and Amniotic Fluid Cells

24 October 2022

51

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

Apparent biochemical homozygosity in two obligatory heterozygotes for metachromatic leukodystrophy

24 October 2022

52

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

Ascorbic acid-2-sulfate sulfhohydrolase activity of human arylsulfatase A

24 October 2022

55

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

Purification of arylsulfatase A from boar testis and its activities toward seminolipid and sulfatide.

24 October 2022

56

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

Sulfoglycerogalactolipid from rat testis: a substrate for pure human arylsulfatase A

24 October 2022

57

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

Deficiency of seminolipid sulphatase activity in brain tissue of metachromatic leucodystrophy

24 October 2022

58

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

METABOLISM OF GLUCOCEREBROSIDES. II. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN GAUCHER'S DISEASE.

24 October 2022

61

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

Identification of heterozygous carriers of lipid storage diseases. Current status and clinical applications

24 October 2022

64

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

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

24 October 2022

73

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

I-cell disease: activities of lysosomal enzymes toward natural and synthetic substrates

24 October 2022

74

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

Deficiency of glucosylsphingosine: -Glucosidase in Gaucher disease

24 October 2022

75

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

Enzymatic Defect in Fabry's Disease

24 October 2022

78

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

Fabry's Disease: Alpha-Galactosidase Deficiency

24 October 2022

80

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

Fabry disease: Diagnosis by α-galactosidase activities in tears

24 October 2022

82

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

Fabry's Disease: Antenatal Detection

24 October 2022

83

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

Hydrolysis of ceramide trihexoside by a specific α-galactosidase from human liver

24 October 2022

84

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

On a biochemically special form of infantile amaturotic idiocy

24 October 2022

85

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

ULTRASTRUCTURAL AND BIOCHEMICAL OBSERVATIONS ON A CASE OF SYSTEMIC LATE INFANTILE LIPIDOSIS AND ITS RELATIONSHIP TO TAY-SACHS DISEASE AND GARGOYLISM

24 October 2022

87

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

Chemical pathology of G-m-1-gangliosidosis (generalized gangliosidosis).

24 October 2022

88

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

Cerebral GM1-gangliosidosis: chemical pathology of visceral organs.

24 October 2022

89

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

Oligosaccharide storage in brains from patients with fucosidosis, GM1-gangliosidosis and GM2-gangliosidosis (Sandhoff's disease)

24 October 2022

91

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

Generalized gangliosidosis: beta-galactosidase deficiency.

24 October 2022

92

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

Lactosylceramidase assays for diagnosis of globoid cell leukodystrophy and Gmi-gangliosidosis

24 October 2022

94

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

Generalized gangliosidosis: impaired cleavage of galactose from a mucopolysaccharide and a glycoprotien.

24 October 2022

95

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

The New England Journal of Medicine

24 October 2022

96

282

571

Singer

1970

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

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

24 October 2022

97

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

The chemical structure of normal human brain and Tay-Sachs gangliosides

24 October 2022

99

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

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

24 October 2022

100

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

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

24 October 2022

101

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

Juvenile GM2-gangliosidosis: Clinical variant of Tay-Sachs disease or a new disease

24 October 2022

102

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

Partial deficiency of hexosaminidase component A in juvenile GM2-gangliosidosis

24 October 2022

103

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

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

24 October 2022

104

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

Gm2-gangliosidosis with total hexosaminidase deficiency.

24 October 2022

105

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

GM2-gangliosidosis, AB variant: clinico-pathological study of a case

24 October 2022

106

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

Tay-sachs disease. Detection of heterozygotes and homozygotes by serum hexosaminidase assay

24 October 2022

109

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

Urinary test for identification of Tay-Sachs genotypes

24 October 2022

111

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

Tay-Sachs Disease — The Use of Tears for the Detection of Heterozygotes

24 October 2022

112

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

Tay-Sachs Disease: Prenatal Diagnosis

24 October 2022

113

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

Absence of Hexosaminidase a and B in a Normal Adult

24 October 2022

117

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

[Juvenile GM2 gangliosidosis with altered substrate specificity of hexosaminidase A (author's transl)]

24 October 2022

118

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

Enzyme alterations and lipid storage in three variants of Tay-Sachs disease

24 October 2022

119

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

Chemical pathology of krabbe's disease. IV. Studies of galactosylceramide and lactosylceramide BETA-galactosidases in brain, white blood cells and aminotic fluid cells

24 October 2022

120

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50049-9

24 October 2022

Identifiers

1 reference

5 September 2017

1 reference

PubMed ID

26837