(Q67427991)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1238048%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

title

Detection of homozygotes and heterozygotes for metachromatic leukodystrophy in lymphoid cell lines and peripheral leukocytes (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1238048%20AND%20SRC:MED&resulttype=core&format=json

metachromatic leukodystrophy

13 September 2019

main subject

1 reference

1 reference

https://api.crossref.org/works/10.1111/J.1469-1809.1975.TB00638.X

5 November 2023

author name string

N. G. Beratis

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1238048

4 September 2022

C. Danesino

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1238048

4 September 2022

K. Hirschhorn

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1238048

4 September 2022

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=1238048

4 September 2022

publication date

1 May 1975

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1238048%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

13 September 2019

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1469-1809.1975.tb00638.x

1 reference

https://api.crossref.org/works/10.1111/J.1469-1809.1975.TB00638.X

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1469-1809.1975.tb00638.x/fullpdf

5 November 2023

1 reference

https://api.crossref.org/works/10.1111/J.1469-1809.1975.TB00638.X

5 November 2023

published in

Annals of Human Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1238048%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

volume

38

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1238048%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1238048%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

page(s)

485-493

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1238048%20AND%20SRC:MED&resulttype=core&format=json

Metachromatic form of diffuse cerebral sclerosis. V. The nature and significance of low sulfatase activity: a controlled study of brain, liver and kidney in four patients with metachromatic leukodystrophy (MLD).

13 September 2019

cites work

1

1 reference

https://api.crossref.org/works/10.1111/J.1469-1809.1975.TB00638.X

METACHROMATIC FORM OF DIFFUSE CEREBRAL SCLEROSIS. IV. LOW SULFATASE ACTIVITY IN THE URINE OF NINE LIVING PATIENTS WITH METACHROMATIC LEUKODYSTROPHY (MLD)

5 November 2023

2

1 reference

https://api.crossref.org/works/10.1111/J.1469-1809.1975.TB00638.X

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

5 November 2023

3

1 reference

https://api.crossref.org/works/10.1111/J.1469-1809.1975.TB00638.X

The assay of arylsulphatases A and B in human urine

5 November 2023

4

1 reference

https://api.crossref.org/works/10.1111/J.1469-1809.1975.TB00638.X

Metachromatic leukodystrophy: Detection in serum

5 November 2023

5

1 reference

https://api.crossref.org/works/10.1111/J.1469-1809.1975.TB00638.X

Biochemically Marked Lymphocytoid Lines: Establishment of Lesch-Nyhan Cells

5 November 2023

8

1 reference

https://api.crossref.org/works/10.1111/J.1469-1809.1975.TB00638.X

Studies on ciliary dyskinesia factor in cystic fibrosis. II. Short term leukocyte cultures and long term lymphoid lines.

5 November 2023

9

1 reference

https://api.crossref.org/works/10.1111/J.1469-1809.1975.TB00638.X

An activator of cerebroside sulphatase in human normal liver and in cases of congenital metachromatic leukodystrophy

5 November 2023

12

1 reference

https://api.crossref.org/works/10.1111/J.1469-1809.1975.TB00638.X

Infantile metachromatic leukodystrophy

5 November 2023

13

1 reference

https://api.crossref.org/works/10.1111/J.1469-1809.1975.TB00638.X

Deficiency of Arylsulphatase A in Leucocytes and Skin Fibroblasts in Juvenile Metachromatic Leucodystrophy

5 November 2023

14

1 reference

https://api.crossref.org/works/10.1111/J.1469-1809.1975.TB00638.X

Infantile metachromatic leukodystrophy. Confirmation of a prenatal diagnosis.

5 November 2023

15

1 reference

https://api.crossref.org/works/10.1111/J.1469-1809.1975.TB00638.X

Protein measurement with the Folin phenol reagent

5 November 2023

16

1 reference

https://api.crossref.org/works/10.1111/J.1469-1809.1975.TB00638.X

Cerebroside 3-sulfate as a physiological substrate of arylsulfatase A

5 November 2023

17

1 reference

https://api.crossref.org/works/10.1111/J.1469-1809.1975.TB00638.X

Role of amniocentesis in the intrauterine detection of genetic disorders

5 November 2023

18

1 reference

https://api.crossref.org/works/10.1111/J.1469-1809.1975.TB00638.X

Metachromatic Leukodystrophy: Diagnosis with Samples of Venous Blood

5 November 2023

20

1 reference

https://api.crossref.org/works/10.1111/J.1469-1809.1975.TB00638.X

Metachromatic leukodystrophy: arylsulfatase-A deficiency in skin fibroblast cultures

5 November 2023

21

1 reference

https://api.crossref.org/works/10.1111/J.1469-1809.1975.TB00638.X

An improved method for the determination of leukocyte arylsulfatase A and its application to the diagnosis of metachromatic leukodystrophy in homozygous and heterozygous states.

5 November 2023

22

1 reference

https://api.crossref.org/works/10.1111/J.1469-1809.1975.TB00638.X

Genetic studies on human lymphoblastoid lines: isozyme analysis on cell lines from forty-one different individuals and on mutants produced following exposure to a chemical mutagen

5 November 2023

23

1 reference

https://api.crossref.org/works/10.1111/J.1469-1809.1975.TB00638.X

Chemical Mutagenesis at the Phosphoribosyltransferase Locus in Cultured Human Lymphoblasts

5 November 2023

24

1 reference

https://api.crossref.org/works/10.1111/J.1469-1809.1975.TB00638.X

Citrullinemic Lymphocytes in Long Term Culture

5 November 2023

25

1 reference

https://api.crossref.org/works/10.1111/J.1469-1809.1975.TB00638.X

Enzymatic abnormality of the carrier state in metachromatic leukodystrophy

5 November 2023

26

1 reference

https://api.crossref.org/works/10.1111/J.1469-1809.1975.TB00638.X

Purine nucleotide synthesis in lymphoblasts cultured from normal subjects and a patient with Lesch-Nyhan syndrome.

5 November 2023

27

1 reference

https://api.crossref.org/works/10.1111/J.1469-1809.1975.TB00638.X

5 November 2023

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1238048%20AND%20SRC:MED&resulttype=core&format=json

13 September 2019

1 reference