(Q43844279)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11774777%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

title

Molecular and clinical characterisation of homocystinuria in two Austrian families with cystathionine beta-synthase deficiency (English)

1 reference

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5 December 2019

1 reference

Gere Sunder-Plassmann

2

1 reference

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5 December 2019

Heinz Burgmann

3

1 reference

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5 December 2019

author name string

U Tröndle

1

1 reference

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5 December 2019

H Buchmayer

4

1 reference

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5 December 2019

L Kramer

5

1 reference

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5 December 2019

C Bieglmayer

6

1 reference

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5 December 2019

W H Hörl

7

1 reference

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5 December 2019

M Födinger

8

1 reference

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5 December 2019

publication date

1 January 2001

1 reference

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5 December 2019

published in

Vienna Clinical Weekly

1 reference

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5 December 2019

volume

28

1 reference

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5 December 2019

issue

5

1 reference

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5 December 2019

page(s)

145-151

1 reference

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Mutation in blood coagulation factor V associated with resistance to activated protein C.

5 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1046%2FJ.1563-2571.2001.01035.X

Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine beta-synthase using an improved bacterial expression system

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1563-2571.2001.01035.X

The metabolism of homocysteine: pathways and regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1563-2571.2001.01035.X

A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1563-2571.2001.01035.X

High frequency (71%) of cystathionine β-synthase mutation G307S in Irish homocystinuria patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1563-2571.2001.01035.X

Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1563-2571.2001.01035.X

Vasospasmus: a rare manifestation of homocystinuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1563-2571.2001.01035.X

The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1563-2571.2001.01035.X

Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1563-2571.2001.01035.X

Molecular basis of phenotype expression in homocystinuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1563-2571.2001.01035.X

Biochemistry and molecular genetics of cystathionine beta-synthase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1563-2571.2001.01035.X

Cystathionine beta-synthase mutations in homocystinuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1563-2571.2001.01035.X

Mammalian methylenetetrahydrofolate reductase. Partial purification, properties, and inhibition by S-adenosylmethionine

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1563-2571.2001.01035.X

HOMOCYSTINURIA: AN ENZYMATIC DEFECT.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1563-2571.2001.01035.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1563-2571.2001.01035.X

A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects?

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1563-2571.2001.01035.X

Loss of heterozygosity at the 5,10-methylenetetrahydrofolate reductase locus in human ovarian carcinomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1563-2571.2001.01035.X

A second genetic polymorphism in methylenetetrahydrofolate reductase (MTHFR) associated with decreased enzyme activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1563-2571.2001.01035.X

Convenient single-step, one tube purification of PCR products for direct sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1563-2571.2001.01035.X

10.1046/J.1563-2571.2001.01035.X

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11774777%20AND%20SRC:MED&resulttype=core&format=json

5 December 2019

1 reference