Early manifestations of multiple sulfatase deficiency (Q34247967)

31 July 2017

Early manifestations of multiple sulfatase deficiency (English)

1 reference

31 July 2017

R. D. Burk

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6142938

13 August 2023

D. Valle

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6142938

13 August 2023

G. H. Thomas

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6142938

13 August 2023

C. Miller

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6142938

13 August 2023

A. Moser

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6142938

13 August 2023

H. Moser

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6142938

13 August 2023

K. N. Rosenbaum

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6142938

13 August 2023

language of work or name

English

0 references

publication date

1 April 1984

1 reference

full work available at URL

31 July 2017

https://api.elsevier.com/content/article/PII:S0022347684805508?httpAccept=text/xml

1 reference

https://api.crossref.org/works/10.1016/S0022-3476(84)80550-8

https://api.elsevier.com/content/article/PII:S0022347684805508?httpAccept=text/plain

13 August 2023

1 reference

https://api.crossref.org/works/10.1016/S0022-3476(84)80550-8

The Journal of Pediatrics

13 August 2023

published in

1 reference

31 July 2017

104

1 reference

31 July 2017

4

1 reference

31 July 2017

574-578

1 reference

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).

31 July 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2884%2980550-8

Studies in metachromatic leukodystrophy. XII. Multiple sulfatase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2884%2980550-8

Enzymic studies of sulphatases in tissues of the normal human and in metachromatic leukodystrophy with multiple sulphatase deficiencies: arylsulphatases A, B and C, cerebroside sulphatase, psychosine sulphatase and steroid sulphatases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2884%2980550-8

Metachromatic leukodystrophy. Ultrastructural and enzymatic study of a case of variant O form

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2884%2980550-8

Urinary acid mucopolysaccharides in Multiple Sulfatase Deficiency (Mucosulfatidosis)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2884%2980550-8

Analysis of N-acetyl- -D-glucosaminidase in mucolipidosis II (I-cell disease).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2884%2980550-8

Mucolipidosis 3 (pseudo-Hurler polydystrophy): cytological and ultrastructural observations of cultured fibroblast cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2884%2980550-8

Increased levels of sialic acid associated with a sialidase deficiency in I-cell disease (mucolipidosis II) fibroblasts

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2884%2980550-8

The defect in Hurler's and Hunter's syndromes: faulty degradation of mucopolysaccharide

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2884%2980550-8

Simultaneous determination of picomole levels of gluco- and galactocerebroside, monogalactosyl diglyceride, and sulfatide by high performance liquid chromatography

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2884%2980550-8

Reverse phase high-performance liquid chromatography of cerebrosides,sulfatides, and ceramides: microanalysis of homolog composition without hydrolysis and application to cerebroside analysis in peripheral nerves of adrenoleukodystrophy pateints

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2884%2980550-8

A Newly Recognized Cause of Low Urinary Estriol in Pregnancy: Multiple Sulfatase Deficiency of the Fetus

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2884%2980550-8

Sialidase (alpha-n-acetyl neuraminidase) deficiency: the enzyme defect in an adult with macular cherry-red spots and myoclonus without dementia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2884%2980550-8

inferred from DOI database lookup

7 January 2021

based on heuristic

Genetic heterogeneity in metachromatic leukodystrophy

5

1 reference

https://api.crossref.org/works/10.1016/S0022-3476(84)80550-8

13 August 2023

Identifiers

1 reference

31 July 2017

1 reference