(Q35569369)

8 August 2017

title

Fabry's disease: absence of an -galactosidase isozyme (English)

1 reference

8 August 2017

1 reference

S. Wood

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5028965

29 March 2023

H. L. Nadler

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5028965

29 March 2023

language of work or name

English

0 references

publication date

1 May 1972

1 reference

full work available at URL

8 August 2017

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/5028965/pdf/?tool=EBI

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5028965

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/5028965/?tool=EBI

29 March 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5028965

https://europepmc.org/articles/PMC1762282

29 March 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5028965

https://europepmc.org/articles/PMC1762282?pdf=render

29 March 2023

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A5028965

American Journal of Human Genetics

29 March 2023

published in

1 reference

8 August 2017

volume

24

1 reference

8 August 2017

issue

3

1 reference

8 August 2017

page(s)

250-255

1 reference

Protein measurement with the Folin phenol reagent

8 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762282

Tay-Sachs Disease: Generalized Absence of a Beta-D- N -Acetylhexosaminidase Component

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762282

Fabry's Disease: Alpha-Galactosidase Deficiency

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762282

Metachromatic leukodystrophy: arylsulfatase-A deficiency in skin fibroblast cultures

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762282

Enzyme Replacement in Fabry's Disease, an Inborn Error of Metabolism

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762282

Presence of alpha-anomeric glycosidic configuration in the glycolipids accumulated in kidney with Fabry's disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762282

Glycolipid and mucopolysaccharide abnormality in fibroblasts of fabry's disease.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762282

Anomeric Structures of Globoside and Ceramide Trihexoside of Human Erythrocytes and Hamster Fibroblasts

26 September 2018

1 reference

12 December 2020

Lysosomal hydrolases: Conversion of acidic to basic forms by neuraminidase

1 reference

12 December 2020

Enzymatic Defect in Fabry's Disease

1 reference

12 December 2020

FABRY'S DISEASE: CLASSIFICATION AS A SPHINGOLIPIDOSIS AND PARTIAL CHARACTERIZATION OF A NOVEL GLYCOLIPID

1 reference

12 December 2020

Fabry's Disease: Antenatal Detection

1 reference

12 December 2020

Genetic Inactivation of the α-Galactosidase Locus in Carriers of Fabry's Disease

1 reference

12 December 2020

Identifiers

PMC publication ID

1762282

1 reference

8 August 2017

1 reference