(Q72832572)

English

Lysosomal enzymes in ataxia: discovery of two new cases of late onset hexosaminidase A and B deficiency (adult sandhoff disease) in French Canadians

scientific article published on 01 November 1984

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6239679%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

Lysosomal enzymes in ataxia: discovery of two new cases of late onset hexosaminidase A and B deficiency (adult Sandhoff disease) in French Canadians (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6239679%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

Lysosomal enzymes in ataxia: discovery of two new cases of late onset hexosaminidase A and B deficiency (adult sandhoff disease) in French Canadians (English)

1 reference

10.1017/S0317167100035125

https://api.crossref.org/works/10.1017/S0317167100035125

4 September 2023

Sandhoff disease

1 reference

based on heuristic

inferred from title

1 reference

10.1017/S0317167100035125

https://api.crossref.org/works/10.1017/S0317167100035125

4 September 2023

1

object named as

A Barbeau

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6239679%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

author name string

L. Plasse

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6239679

4 September 2023

T. Cloutier

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6239679

4 September 2023

S. Paris

4

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6239679

4 September 2023

M. Roy

5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6239679

4 September 2023

language of work or name

1 reference

National Center for Biotechnology Information

PubMed publication ID

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=6239679

4 September 2023

publication date

1 November 1984

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6239679%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

full work available at URL

https://www.cambridge.org/core/services/aop-cambridge-core/content/view/S0317167100035125

1 reference

10.1017/S0317167100035125

https://api.crossref.org/works/10.1017/S0317167100035125

4 September 2023

Canadian Journal of Neurological Sciences

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6239679%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

11

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6239679%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

4 Suppl

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6239679%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

601-606

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6239679%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

The clinical spectrum of hexosaminidase deficiency diseases

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100035125

7 January 2021

based on heuristic

inferred from DOI database lookup

A new juvenile hexosaminidase deficiency disease presenting as cerebellar ataxia: Clinical and biochemical studies

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100035125

7 January 2021

based on heuristic

inferred from DOI database lookup

Adult GM2 gangliosidosis in association with Tay-Sachs disease: a new phenotype

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100035125

7 January 2021

based on heuristic

inferred from DOI database lookup

Human beta-galactosidase and alpha-neuraminidase deficient mucolipidosis: genetic complementation analysis of the neuraminidase deficiency

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100035125

7 January 2021

based on heuristic

inferred from DOI database lookup

Lysosomal sialidase deficiency in sialidosis with partial beta-galactosidase deficiency

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100035125

7 January 2021

based on heuristic

inferred from DOI database lookup

Progressive cerebeilar ataxia, spasticity, psychomotor retardation, and hexosaminidase deficiency in a 10-year-old child: Juvenile Sandhoff disease

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100035125

7 January 2021

based on heuristic

inferred from DOI database lookup

Adult mucolipidosis with beta-galactosidase and neuraminidase deficiencies.

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100035125

7 January 2021

based on heuristic

inferred from DOI database lookup

Segregation within a family of two mutant alleles for hexosaminidase A

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100035125

7 January 2021

based on heuristic

inferred from DOI database lookup

Leucocyte glutamate dehydrogenase in various hereditary ataxias

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100035125

7 January 2021

based on heuristic

inferred from DOI database lookup

β-Galactosidase-neuraminidase deficiency in adults: Deficiency of a freeze-labile neuraminidase in leukocytes and fibroblasts

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100035125

7 January 2021

based on heuristic

inferred from DOI database lookup

Absence of Hexosaminidase a and B in a Normal Adult

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100035125

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100035125

7 January 2021

based on heuristic

inferred from DOI database lookup

Neuraminidase deficiency and accumulation of sialic acid in lymphocytes in adult type sialidosis with partial beta-galactosidase deficiency

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100035125

7 January 2021

based on heuristic

inferred from DOI database lookup

N-Acetyl-β-glucosaminidases in human spleen

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100035125

7 January 2021

based on heuristic

inferred from DOI database lookup

Clinical Description and Roentgenologic Evaluation of Patients with Friedreich's Ataxia

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100035125

7 January 2021

based on heuristic

inferred from DOI database lookup

Macular cherry-red spot and myoclonus syndrome. Juvenile form of sialidosis.

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100035125

7 January 2021

based on heuristic

inferred from DOI database lookup

Tay-Sachs' and Sandhoff's diseases: the assignment of genes for hexosaminidase A and B to individual human chromosomes

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100035125

7 January 2021

based on heuristic

inferred from DOI database lookup

Inheritance of the enzyme defect in a new hexosaminidase deficiency disease

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100035125

7 January 2021

based on heuristic

inferred from DOI database lookup

Juvenile spinal muscular atrophy: a new hexosaminidase deficiency phenotype

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100035125

7 January 2021

based on heuristic

inferred from DOI database lookup

Neuraminidase activities in sialidosis and mucolipidosis

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100035125

7 January 2021

based on heuristic

inferred from DOI database lookup

Two variant hexosaminidase β-chain alleles segregating in a South African family

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100035125

7 January 2021

based on heuristic

inferred from DOI database lookup

Tay-sachs disease. Detection of heterozygotes and homozygotes by serum hexosaminidase assay

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100035125

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100035125

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100035125

7 January 2021

based on heuristic

inferred from DOI database lookup

beta-Galactosidase-neuraminidase deficiency (galactosialidosis): clinical, pathological, and enzymatic studies in a postmortem case

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100035125

7 January 2021

based on heuristic

inferred from DOI database lookup

Deficient hexosaminidase activity in an exceptional case of Tay-Sachs disease with additional storage of kidney globoside in visceral organs

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100035125

7 January 2021

based on heuristic

inferred from DOI database lookup

The use of white cells as a source of diagnostic material for lipid storage diseases

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100035125

7 January 2021

based on heuristic

inferred from DOI database lookup

Detection of Tay-Sachs disease heterozygotes by assay of hexosaminidase A in serum and leukocytes

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100035125

7 January 2021

based on heuristic

inferred from DOI database lookup

Carrier detection of sialidosis with partial beta-galactosidase deficiency by the assay of lysosomal sialidase in lymphocytes

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100035125

7 January 2021

based on heuristic

inferred from DOI database lookup

Macular cherry-red spots and myoclonus with dementia: Coexistent neuraminidase and β-galactosidase deficiencies

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100035125

7 January 2021

based on heuristic

inferred from DOI database lookup

Adult-onset GM2 gangliosidosis Seizures, dementia, and normal pressure hydrocephalus associated with glycolipid storage in the brain and arachnoid granulation

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100035125

7 January 2021

based on heuristic

inferred from DOI database lookup

Functions of lysosomes

1 reference

https://api.crossref.org/works/10.1017%2FS0317167100035125

7 January 2021

based on heuristic

inferred from DOI database lookup

Sialidosis: a review of human neuraminidase deficiency

9

1 reference

10.1017/S0317167100035125

https://api.crossref.org/works/10.1017/S0317167100035125

4 September 2023

Protein measurement with the Folin phenol reagent

12

1 reference

10.1017/S0317167100035125

https://api.crossref.org/works/10.1017/S0317167100035125

4 September 2023

Juvenile Sandhoff disease: some properties of the residual hexosaminidase in cultured fibroblasts

18

1 reference

10.1017/S0317167100035125

https://api.crossref.org/works/10.1017/S0317167100035125

4 September 2023

Clinical and biochemical pathophysiology of ataxia in the sphingolipidoses

39

1 reference

10.1017/S0317167100035125

https://api.crossref.org/works/10.1017/S0317167100035125

4 September 2023

Identifiers

10.1017/S0317167100035125

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6239679%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:6239679%20AND%20SRC:MED&resulttype=core&format=json

29 October 2019

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