(Q35570079)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:4773478%20AND%20SRC:MED&resulttype=core&format=json

4 October 2019

title

Globoid cell (Krabbe's) leukodystrophy: heterozygote detection in cultured skin fibroblasts (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:4773478%20AND%20SRC:MED&resulttype=core&format=json

4 October 2019

author name string

D. F. Farrell

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4773478

3 March 2023

A. K. Percy

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4773478

3 March 2023

M. M. Kaback

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4773478

3 March 2023

G. M. McKhann

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4773478

3 March 2023

language of work or name

English

0 references

publication date

1 November 1973

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:4773478%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

4 October 2019

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/4773478/?tool=EBI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4773478

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/4773478/pdf/?tool=EBI

3 March 2023

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%3A4773478

https://europepmc.org/articles/PMC1762568

3 March 2023

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A4773478

https://europepmc.org/articles/PMC1762568?pdf=render

3 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%3A4773478

American Journal of Human Genetics

3 March 2023

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:4773478%20AND%20SRC:MED&resulttype=core&format=json

4 October 2019

volume

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:4773478%20AND%20SRC:MED&resulttype=core&format=json

4 October 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:4773478%20AND%20SRC:MED&resulttype=core&format=json

4 October 2019

page(s)

604-609

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:4773478%20AND%20SRC:MED&resulttype=core&format=json

Protein measurement with the Folin phenol reagent

4 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762568

STUDIES IN GLOBOID (KRABBE) LEUKODYSTROPHY. I. THE SIGNIFICANCE OF LIPID ABNORMALITIES IN WHITE MATTER IN 8 GLOBOID AND 13 CONTROL PATIENTS.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762568

A histological and chemical study of three cases of diffuse cerebral sclerosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762568

Isolation of beta-galactosidase and beta-glucosidase from brain.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762568

Lactosylceramide galactosidase: Comparison with other sphingolipid hydrolases in developing rat brain

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762568

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762568

The neuropathy of Krabbe's infantile cerebral sclerosis (globoid cell leucodystrophy).

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762568

Ganglioside GM2 storage diseases: hexosaminidase deficiencies in cultured fibroblasts

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762568

Globoid cell leucodystrophy (Krabbe's disease): deficiency of galactocerebroside beta-galactosidase

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762568

In utero diagnosis of globoid cell leukodystrophy (Krabbe's disease)

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762568

Intrauterine Diagnosis: Comparative Enzymology of Cells Cultivated from Maternal Skin, Fetal Skin, and Amniotic Fluid Cells

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762568

The peripheral neuropathy of Krabbe's (globoid) leukodystrophy.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762568

Metachromatic Leukodystrophy: Diagnosis with Samples of Venous Blood

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762568

Generalized gangliosidosis: beta-galactosidase deficiency.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762568

Brain sphingoglycolipids in Krabbe's globoid cell leucodystrophy

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1762568

Krabbe's Globoid Cell Leukodystrophy: Deficiency of Galactocerebrosidase in Serum, Leukocytes, and Fibroblasts

26 September 2018

1 reference

12 December 2020

Tubules of Globoid Leukodystrophy: A Right-Handed Helix

1 reference

12 December 2020

Mutant enzymatic and cytological phenotypes in cultured human fibroblasts

1 reference

12 December 2020

Human leucocyte arylsulphatase activity

1 reference

12 December 2020

Infantile metachromatic leukodystrophy

1 reference

12 December 2020

The lysosomal localization of sphingolipid hydrolases

1 reference

12 December 2020

A pedigree study of metachromatic leukodystrophy. Biochemical identification of the carrier state

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:4773478%20AND%20SRC:MED&resulttype=core&format=json

4 October 2019

1 reference