(Q38719577)

5 September 2017

1 reference

title

46 Enzymic diagnosis of the genetic mucopolysaccharide storage disorders (English)

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50048-7

26 March 2022

Enzymic diagnosis of the genetic mucopolysaccharide storage disorders (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A26836

26 March 2022

1 reference

C. W. Hall

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A26836

26 March 2022

I. Liebaers

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A26836

26 March 2022

P. Di Natale

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A26836

26 March 2022

E. F. Neufeld

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A26836

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

439-456

1 reference

Inherited disorders of lysosomal metabolism

5 September 2017

2

44

357

Neufeld

1975

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50048-7

Iduronate sulfatase activity in serum, lymphocytes, and fibroblasts--simplified diagnosis of the Hunter syndrome

26 March 2022

9

10

733

Liebaers

1976

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50048-7

Protein measurement with the Folin phenol reagent

26 March 2022

10

193

265

Lowry

1951

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50048-7

Alpha-L-iduronidase activity in cultured skin fibroblasts and amniotic fluid cells.

26 March 2022

12

158

817

Hall

1973

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50048-7

The use of alpha-L-iduronidase activity determinations in leucocytes for the detection of Hurler and Scheie syndromes

26 March 2022

13

60

259

Liem

1975

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50048-7

Detection of the carrier state of Hurler's syndrome by assay of alpha-L-iduronidase in leukocytes

26 March 2022

14

69

305

Dulaney

1976

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50048-7

alpha-L-iduronidase activity in leukocytes: diagnosis of homozygotes and heterozygotes of the Hurler syndrome

26 March 2022

16

122

103

Omura

1976

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50048-7

Hurler syndrome: alpha-L-iduronidase activity in leukocytes as a method for heterozygote detection

26 March 2022

17

10

629

Wappner

1976

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50048-7

A radioactive substrate and assay for α-l-iduronidase

26 March 2022

19

77

211

Di Natale

1977

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50048-7

Iduronate sulfatase in amniotic fluid: An aid in the prenatal diagnosis of the Hunter syndrome

26 March 2022

24

90

423

Liebaers

1977

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50048-7

Mucopolysaccharidosis 3 A (Sanfilippo A disease): deficiency of a heparin sulfamidase in skin fibroblasts and leucocytes.

26 March 2022

26

54

1111

Kresse

1973

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50048-7

Sanfilippo A syndrome: sulfamidase deficiency in cultured skin fibroblasts and liver

26 March 2022

27

54

907

Matalon

1974

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50048-7

The laboratory diagnosis of sanfilippo disease

26 March 2022

28

76

139

Whiteman

1977

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50048-7

Sanfilippo B disease: serum assays for detection of homozygous and heterozygous individuals in three families

26 March 2022

29

83

607

von Figura

1973

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50048-7

The assay of arylsulphatases A and B in human urine

26 March 2022

31

4

453

Baum

1959

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50048-7

Arylsulfatase B deficiency in Maroteaux-Lamy syndrome: Cellular studies and carrier identification

26 March 2022

33

9

475

Beratis

1975

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50048-7

Measurements of arylsulfatases A and B in human serum

26 March 2022

34

86

574

Singh

1975

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50048-7

Uridine diphospho-N-acetylgalactosamine-4-sulfate sulfohydrolase activity of human arylsulfatase B and its deficiency in the Maroteaux-Lamy syndrome

26 March 2022

35

64

955

Fluharty

0 references

Mannosidosis: Deficiency of a specific α-mannosidase component in cultured fibroblasts

37

59

93

Taylor

1975

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50048-7

Residual altered alpha-mannosidase in human mannosidosis

26 March 2022

38

68

292

Beaudet

1976

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50048-7

Mannosidosis: clinical, morphologic, immunologic, and biochemical studies

26 March 2022

39

10

985

Desnick

1976

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50048-7

Fucosidosis: Detection of the carrier state in peripheral blood leukocytes

26 March 2022

41

87

1193

Beratis

1975

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50048-7

Genetic heterogeneity in multiple lysosomal hydrolase deficiency

26 March 2022

43

85

192

Glaser

1974

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50048-7

Mucolipidosis 3 (Pseudo-Hurler polydystrophy): multiple lysosomal enzyme abnormalities in serum and cultured fibroblast cells.

26 March 2022

44

7

751

Thomas

1973

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50048-7

Prenatal diagnosis and fetal pathology of I-cell disease (mucolipidosis type II)

26 March 2022

45

87

221

Aula

1975

1 reference

https://api.crossref.org/works/10.1016/0076-6879(78)50048-7

26 March 2022

Identifiers

1 reference

5 September 2017

1 reference