(Q72547737)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6131608%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

title

Deficiency of lysosomal hydrolases in apparently healthy individuals (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6131608%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

Zlotogora J

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6131608%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

Bach G

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6131608%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

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=6131608

11 August 2023

publication date

1 January 1983

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6131608%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

27 October 2019

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fajmg.1320140112

1 reference

Crossref

DOI

https://api.crossref.org/works/10.1002/AJMG.1320140112

https://onlinelibrary.wiley.com/doi/full/10.1002/ajmg.1320140112

11 August 2023

1 reference

Crossref

DOI

https://api.crossref.org/works/10.1002/AJMG.1320140112

American Journal of Medical Genetics Part A

11 August 2023

published in

1 reference

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27 October 2019

volume

1 reference

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27 October 2019

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6131608%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

page(s)

73-80

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6131608%20AND%20SRC:MED&resulttype=core&format=json

Low arylsulphatase A activity in a family without metachromatic leukodystrophy

27 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320140112

Biochemical, psychometric, and neuropsychological studies in heterozygotes for various lipidoses

11 August 2023

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320140112

Absence of Hexosaminidase a and B in a Normal Adult

11 August 2023

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320140112

Cerebroside sulfate hydrolysis by fibroblasts from a parent with metachromatic leukodystrophy

11 August 2023

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320140112

Segregation within a family of two mutant alleles for hexosaminidase A

11 August 2023

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320140112

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

11 August 2023

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320140112

Apparent biochemical homozygosity in two obligatory heterozygotes for metachromatic leukodystrophy

11 August 2023

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320140112

Spinocerebellar degeneration: Hexosaminidase A and B deficiency in two adult sisters

11 August 2023

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320140112

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

11 August 2023

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320140112

Leukocyte Sulfatidase for the Reliable Diagnosis of Metachromatic Leukodystrophy

11 August 2023

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320140112

Adult (chronic) GM2 gangliosidosis. Atypical spinocerebellar degeneration in a Jewish sibship

11 August 2023

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320140112

Ganglioside catabolism in hexosaminidase A-deficient adults.

11 August 2023

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320140112

Retinal Pigment Epithelial Degeneration Associated with Leukocytic Arylsulfatase a Deficiency

11 August 2023

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320140112

Possible misdiagnosis of Krabbe disease

11 August 2023

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320140112

Chronic GM2 gangliosidosis masquerading as atypical Friedreich ataxia: clinical, morphologic, and biochemical studies of nine cases

11 August 2023

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320140112

Problems in the clinical interpretation of arylsulfatase A deficiency

11 August 2023

1 reference

https://api.crossref.org/works/10.1002/AJMG.1320140112

11 August 2023

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6131608%20AND%20SRC:MED&resulttype=core&format=json

27 October 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6131608%20AND%20SRC:MED&resulttype=core&format=json