(Q41448241)

30 September 2017

Metachromatic leukodystrophy and pseudoarylsulfatase A deficiency in a Danish family (English)

1 reference

metachromatic leukodystrophy

30 September 2017

1 reference

T. Tønnesen

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6132516

11 August 2023

P. V. Bro

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6132516

11 August 2023

K. Brøndum Nielsen

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6132516

11 August 2023

C. Lykkelund

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6132516

11 August 2023

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=6132516

11 August 2023

publication date

1 March 1983

1 reference

full work available at URL

30 September 2017

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1651-2227.1983.tb09692.x

1 reference

https://api.crossref.org/works/10.1111/J.1651-2227.1983.TB09692.X

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1651-2227.1983.tb09692.x/fullpdf

11 August 2023

1 reference

https://api.crossref.org/works/10.1111/J.1651-2227.1983.TB09692.X

Acta Paediatrica Scandinavica

11 August 2023

published in

1 reference

30 September 2017

72

1 reference

30 September 2017

2

1 reference

30 September 2017

175-178

1 reference

The accumulation of cerebroside sulfates by fibroblasts in culture from patients with late infantile metachromatic leukocystrophy.

30 September 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.1983.TB09692.X

Apparent biochemical homozygosity in two obligatory heterozygotes for metachromatic leukodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.1983.TB09692.X

Cerebroside sulfate hydrolysis by fibroblasts from a parent with metachromatic leukodystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1651-2227.1983.TB09692.X

THE EXCRETION OF URINARY SULFATIDES IN HEALTH AND NEUROLOGICAL DISEASE.

21 January 2018

2

1 reference

https://api.crossref.org/works/10.1111/J.1651-2227.1983.TB09692.X

The incidence and genetics of metachromatic leucodystrophy in northern Sweden

11 August 2023

3

1 reference

https://api.crossref.org/works/10.1111/J.1651-2227.1983.TB09692.X

A correlation of intracellular cerebroside sulfatase activity in fibroblasts with latency in metachromatic leukodystrophy

11 August 2023

5

1 reference

https://api.crossref.org/works/10.1111/J.1651-2227.1983.TB09692.X

The New England Journal of Medicine

11 August 2023

7

293

302

Dubois G

1975

1 reference

https://api.crossref.org/works/10.1111/J.1651-2227.1983.TB09692.X

Low arylsulphatase A activity in a family without metachromatic leukodystrophy

11 August 2023

10

1 reference

https://api.crossref.org/works/10.1111/J.1651-2227.1983.TB09692.X

Letter to the Editor: About the Inheritance of the Aryl Sulfatase A

11 August 2023

12

1 reference

https://api.crossref.org/works/10.1111/J.1651-2227.1983.TB09692.X

Prenatal Diagnosis of Metachromatic Leukodystrophy in a Family with Pseudo Arylsulfatase A Deficiency by the Cerebroside Sulfate Loading Test

11 August 2023

13

1 reference

https://api.crossref.org/works/10.1111/J.1651-2227.1983.TB09692.X

The assay of arylsulphatases A and B in human urine

11 August 2023

14

1 reference

https://api.crossref.org/works/10.1111/J.1651-2227.1983.TB09692.X

Protein measurement with the Folin phenol reagent

11 August 2023

16

1 reference

https://api.crossref.org/works/10.1111/J.1651-2227.1983.TB09692.X

Correction of the defective sulfatide degradation in cultured fibroblasts from patients with metachromatic leucodystrophy

11 August 2023

17

1 reference

https://api.crossref.org/works/10.1111/J.1651-2227.1983.TB09692.X

11 August 2023

Identifiers

1 reference

30 September 2017

1 reference