(Q34693096)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3872065%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

title

The natural history of homocystinuria due to cystathionine beta-synthase deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3872065%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

0 references

1 reference

Mudd SH

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3872065%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

Skovby F

2

1 reference

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6 October 2019

Levy HL

3

1 reference

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6 October 2019

Pettigrew KD

4

1 reference

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6 October 2019

Wilcken B

5

1 reference

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6 October 2019

Pyeritz RE

6

1 reference

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6 October 2019

Andria G

7

1 reference

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6 October 2019

Boers GH

8

1 reference

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6 October 2019

Bromberg IL

9

1 reference

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6 October 2019

Cerone R

10

1 reference

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6 October 2019

language of work or name

English

0 references

publication date

1 January 1985

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3872065%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

6 October 2019

published in

1 reference

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6 October 2019

volume

37

1 reference

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6 October 2019

issue

1

1 reference

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6 October 2019

page(s)

1-31

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HOMOCYSTINURIA: CLINICAL AND PATHOLOGICAL REVIEW OF TEN CASES.

6 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=1684548

HOMOCYSTINURIA: AN ENZYMATIC DEFECT.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684548

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684548

Metabolic Abnormalities Detected in a Survey of Mentally Backward Individuals in Northern Ireland

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684548

The identification of homocystine in the urine

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684548

Maternal phenylketonuria and hyperphenylalaninemia. An international survey of the outcome of untreated and treated pregnancies

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684548

A study of cardiovascular risk in heterozygotes for homocystinuria

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684548

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684548

Anesthetic considerations for the patient with homocystinuria

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684548

Homocystinuria--the effects of betaine in the treatment of patients not responsive to pyridoxine

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684548

Homocystinuria: biogenesis of cystathionine beta-synthase subunits in cultured fibroblasts and in an in vitro translation system programmed with fibroblast messenger RNA

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684548

Homocystinuria and megaloblastic anemia responsive to vitamin B12 therapy. An inborn error of metabolism due to a defect in cobalamin metabolism

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684548

Dietary treatment of homocystinuria

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684548

Homocystinuria. A recently discovered cause of mental defect and cerebrovascular thrombosis

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684548

Homocystinuria with Epilepsy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684548

Therapeutic Problems of Adolescent Homocystinuria

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684548

Psychiatric and biochemical aspects of a case of homocystinuria

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684548

On a case of homocystinuria

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684548

Homocystinuria. Review of four cases

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684548

An unusual case of homocystinuria

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684548

Homocystinuria in New South Wales

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684548

Anaesthesia and homocystinuria

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684548

SPONGY DEGENERATION OF THE CENTRAL NERVOUS SYSTEM: CASE OF HOMOCYSTINURIA

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684548

[Homocystinuria. Histological and ultrastructural study. Report of a case (author's transl)]

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684548

Homocystinuria--a surgical and anaesthetic risk

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684548

Pyridoxine treatment does not prevent homocystinemia after methionine loading in adult homocystinuria patients

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684548

Homocystinuria. I. A clinical and pathological study of nine subjects in six families

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684548

Management of patients with homocystinuria requiring surgery under general anaesthesia. A case report

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684548

Urinary metabolic screening of mentally retarded patients from institutions in the northern part of Sweden.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1684548

Homocystinuria. Clinical and dietary studies

26 October 2018

1 reference

12 December 2020

Pregnancy and homocystinuria.

1 reference

12 December 2020

Urinary metabolic screening in children with psycho-neurological diseases. Evaluation of different screening tests

1 reference

12 December 2020

Studies on the use of skin fibroblasts for the measurement of cystathionine synthase activity with respect to homocystinuria

1 reference

12 December 2020

How does one assess the risk of abnormalities from human in vitro fertilization?

1 reference

12 December 2020

Homocystinuria and chronic respiratory insufficiency. Apropos of a case

1 reference

12 December 2020

Treatment of homocystinuria with a low-methionine diet, supplemental cystine, and a methyl donor

1 reference

12 December 2020

[2 new cases of homocystinuria]

1 reference

12 December 2020

[Radiologic study of the osseous symptoms of homocystinuria. (6 cases)]

1 reference

12 December 2020

A GENERALIZED WILCOXON TEST FOR COMPARING ARBITRARILY SINGLY-CENSORED SAMPLES

1 reference

12 December 2020

Homocystinuria and carotid arteriography

1 reference

12 December 2020

[Homocystinuria (3 cases)]

1 reference

12 December 2020

Abdominal aortic aneurysm in homocystinuria

1 reference

12 December 2020

The successful treatment of homocystinuria with pyridoxine

1 reference

12 December 2020

Kinetics and distribution of 111Indium-labeled platelets in patients with homocystinuria

1 reference

12 December 2020

The Effect of Pyridoxine on Platelet Adhesiveness in Homocystinuria

1 reference

12 December 2020

Anaesthesia and homocystinuria

1 reference

12 December 2020

Anatomo-pathological study of a case of homocystinuria

1 reference

12 December 2020

1 reference

12 December 2020

Pregnancy and homocystinuria

1 reference

12 December 2020

A case of familial homocystinuria with carotid alterations and dislocation of the crystalline lens

1 reference

12 December 2020

Homocystinuria (cystathionine synthase deficiency). Results of treatment in late-diagnosed patients

1 reference

12 December 2020

Combined vitamin responsiveness in homocystinuria

1 reference

12 December 2020

The use of betaine for the treatment of homocystinuria

1 reference

12 December 2020

[Homocystinuria with unusual neurologic features including chorea: a case-report (author's transl)]

1 reference

12 December 2020

A case of homocystinuria with noteworthy dermatological features

1 reference

12 December 2020

Homocystinemia. Vascular injury and arterial thrombosis

1 reference

12 December 2020

Some aspects of the diagnosis and treatment of homocystinuria

1 reference

12 December 2020

Homocystinuria of vitamin B6 dependent type

1 reference

12 December 2020

Symptoms, diagnostic pitfalls, and treatment of homocystinuria in seven adult patients

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:3872065%20AND%20SRC:MED&resulttype=core&format=json

6 October 2019

PubMed publication ID

3872065

1 reference