(Q35201920)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7081217%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

title

Immunochemical studies on cultured fibroblasts from patients with homocystinuria due to cystathionine beta-synthase deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7081217%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

author name string

F Skovby

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7081217%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

J Kraus

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7081217%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

C Redlich

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7081217%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

L E Rosenberg

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7081217%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

language of work or name

English

0 references

publication date

1 January 1982

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7081217%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

10 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7081217%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

volume

34

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7081217%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

page(s)

73-83

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7081217%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7081217%20AND%20SRC:MED&resulttype=core&format=json

Protein measurement with the Folin phenol reagent

10 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=1685209

Affinity of cystathionine beta-synthase for pyridoxal 5'-phosphate in cultured cells. A mechanism for pyridoxine-responsive homocystinuria

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685209

Studies on human beta-D-N-acetylhexosaminidases. 3. Biochemical genetics of Tay-Sachs and Sandhoff's diseases.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685209

Immunological properties of N-acetyl-beta-D-glucosaminidase of normal human liver and of GM2-gangliosidosis liver.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685209

Sucrase-isomaltase deficiency. Absence of an inactive enzyme variant

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685209

Radioimmune determination of hypoxanthine phosphoribosyltransferase crossreacting material in erythrocytes of Lesch-Nyhan patients

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685209

Hypoxanthine phosphoribosyltransferase deficiency: association of reduced catalytic activity with reduced levels of immunologically detectable enzyme protein

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685209

Purification and properties of cystathionine beta-synthase from human liver. Evidence for identical subunits

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685209

Homocystinuria. Evidence for three distinct classes of cystathionine beta-synthase mutants in cultured fibroblasts

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685209

Purine nucleoside phosphorylase deficiency. Evidence for molecular heterogeneity in two families with enzyme-deficient members

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685209

Cystathionine synthase in tissue culture derived from human skin: enzyme defect in homocystinuria

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1685209

Galactosemia: evidence for a structural gene mutation

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7081217

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Immunological studies on glycogen storage diseases type III and V. Demonstration of the presence of an immunoreactive protein in one case of muscle phosphorylase deficiency

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7081217

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:7081217%20AND%20SRC:MED&resulttype=core&format=json

10 October 2019

1 reference