(Q68299661)

English

Low arylsulphatase A activity and choreoathetotic syndrome in three siblings: differentiation of pseudodeficiency from metachromatic leukodystrophy

scientific article published on 01 February 1991

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scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1674246%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

Low arylsulphatase A activity and choreoathetotic syndrome in three siblings: differentiation of pseudodeficiency from metachromatic leukodystrophy (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1674246%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

metachromatic leukodystrophy

1 reference

based on heuristic

inferred from title

author name string

J. Kappler

1

1 reference

Europe PubMed Central

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26 October 2022

R. W. Watts

2

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1674246

26 October 2022

E. Conzelmann

3

1 reference

Europe PubMed Central

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26 October 2022

D. A. Gibbs

4

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1674246

26 October 2022

P. Propping

5

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1674246

26 October 2022

V. Gieselmann

6

1 reference

Europe PubMed Central

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26 October 2022

language of work or name

1 reference

National Center for Biotechnology Information

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26 October 2022

publication date

1 February 1991

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1674246%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

full work available at URL

http://link.springer.com/content/pdf/10.1007/BF01955534.pdf

Portable Document Format

1 reference

10.1007/BF01955534

https://api.crossref.org/works/10.1007/BF01955534

26 October 2022

http://link.springer.com/article/10.1007/BF01955534/fulltext.html

1 reference

10.1007/BF01955534

https://api.crossref.org/works/10.1007/BF01955534

26 October 2022

http://link.springer.com/content/pdf/10.1007/BF01955534

1 reference

10.1007/BF01955534

https://api.crossref.org/works/10.1007/BF01955534

26 October 2022

European Journal of Pediatrics

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1674246%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

150

1 reference

Europe PubMed Central

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23 September 2019

4

1 reference

Europe PubMed Central

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23 September 2019

287-290

1 reference

Europe PubMed Central

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23 September 2019

https://scigraph.springernature.com/pub.10.1007/bf01955534

0 references

A newly recognized syndrome of connective tissue dysplasia in siblings (previously described as a variant of Morquio disease).

1 reference

https://pubmed.ncbi.nlm.nih.gov/1674246

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Metachromatic leukodystrophy caused by a partial cerebroside sulfatase

1 reference

https://pubmed.ncbi.nlm.nih.gov/1674246

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Probable metachromatic leukodystrophy/pseudodeficiency compound heterozygote at the arylsulfatase A locus with neurological and psychiatric symptomatology

1 reference

https://pubmed.ncbi.nlm.nih.gov/1674246

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A simple chromogenic assay for arylsulfatase A

1 reference

https://pubmed.ncbi.nlm.nih.gov/1674246

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A variant form of metachromatic leucodystrophy in a patient suffering from another congenital degenerative neurological disease.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1674246

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pseudo arylsulfatase-A deficiency in healthy individuals: genetic and biochemical relationship to metachromatic leukodystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/1674246

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1674246

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pseudo arylsulfatase a deficiency: Evidence for a structurally altered enzyme

1 reference

https://pubmed.ncbi.nlm.nih.gov/1674246

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Absence of ASA Activity in Healthy Father of a Patient with Metachromatic Leukodystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/1674246

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Metachromatic leucodystrophy. Two unusual cases of the late infantile form

1 reference

https://pubmed.ncbi.nlm.nih.gov/1674246

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pseudodeficiency of arylsulfatase A: a counseling dilemma.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1674246

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Choreoathetosis of genetic origin

1 reference

https://pubmed.ncbi.nlm.nih.gov/1674246

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/1674246

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An unusual form of metachromatic leukodystrophy in three siblings

1 reference

https://pubmed.ncbi.nlm.nih.gov/1674246

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Very low arylsulfatase A and cerebroside sulfatase activities in leukocytes of healthy members of metachromatic leukodystrophy family

1 reference

https://pubmed.ncbi.nlm.nih.gov/1674246

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Benign hereditary chorea Clinical and genetic aspects

1 reference

https://pubmed.ncbi.nlm.nih.gov/1674246

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An unusual form of arylsulfatase A deficiency combined with sulfatide-excretion and a normal sulfatide-loading

1 reference

https://pubmed.ncbi.nlm.nih.gov/1674246

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pseudodeficiency of arylsulfatase A: a common genetic polymorphism with possible disease implications

1 reference

https://pubmed.ncbi.nlm.nih.gov/1674246

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Brain galactolipid content in a patient with pseudoarylsulfatase A deficiency and coincidental diffuse disseminated sclerosis, and in patients with metachromatic, adreno-, and other leukodystrophies.

1 reference

https://pubmed.ncbi.nlm.nih.gov/1674246

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pseudoarylsulfatase-A deficiency in the neurologically impaired patient

1 reference

https://pubmed.ncbi.nlm.nih.gov/1674246

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site

1 reference

https://pubmed.ncbi.nlm.nih.gov/1674246

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Protein measurement with the Folin phenol reagent

1 reference

https://pubmed.ncbi.nlm.nih.gov/1674246

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A clinical trial of fibroblast transplantation for the treatment of mucopolysaccharidoses

1 reference

https://pubmed.ncbi.nlm.nih.gov/1674246

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Apparent biochemical homozygosity in two obligatory heterozygotes for metachromatic leukodystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/1674246

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The New England Journal of Medicine

4

293

302

author name string

G Dubois

publication date

1975

1 reference

10.1007/BF01955534

https://api.crossref.org/works/10.1007/BF01955534

26 October 2022

Zeitschrift fur Neurologie

26

203

145

author name string

R Nyberg-Hansen

publication date

1972

1 reference

10.1007/BF01955534

https://api.crossref.org/works/10.1007/BF01955534

26 October 2022

The Quarterly Journal of Medicine

28

50

377

author name string

E Spellacy

publication date

1981

1 reference

10.1007/BF01955534

https://api.crossref.org/works/10.1007/BF01955534

26 October 2022

Identifiers

10.1007/BF01955534

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1674246%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1674246%20AND%20SRC:MED&resulttype=core&format=json

23 September 2019

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