(Q24533417)

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Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population

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Europe PubMed Central

PubMed publication ID

4 July 2017

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Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population (English)

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

maple syrup urine disease

1 reference

based on heuristic

inferred from title

author name string

L Edelmann

1

author given names

L

author last names

Edelmann

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

M P Wasserstein

2

author given names

M P

author last names

Wasserstein

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

R Kornreich

3

author given names

R

author last names

Kornreich

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

C Sansaricq

4

author given names

C

author last names

Sansaricq

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

S E Snyderman

5

author given names

S E

author last names

Snyderman

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

G A Diaz

6

author given names

G A

author last names

Diaz

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

language of work or name

0 references

publication date

16 August 2001

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

69

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

4

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

863-868

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

Crystal structure of human branched-chain alpha-ketoacid dehydrogenase and the molecular basis of multienzyme complex deficiency in maple syrup urine disease

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226071

20 March 2017

Frequency and carrier risk associated with common BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer patients

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226071

20 March 2017

Occurrence of a 2-bp (AT) deletion allele and a nonsense (G-to-T) mutant allele at the E2 (DBT) locus of six patients with maple syrup urine disease: multiple-exon skipping as a secondary effect of the mutations

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226071

20 March 2017

Purification and properties of branched-chain alpha-keto acid dehydrogenase phosphatase from bovine kidney

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226071

20 March 2017

Purification and characterization of branched chain alpha-keto acid dehydrogenase complex of bovine kidney

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226071

20 March 2017

SWISS-MODEL and the Swiss-PdbViewer: an environment for comparative protein modeling

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226071

20 March 2017

Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226071

20 March 2017

Gene preference in maple syrup urine disease

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226071

20 March 2017

Carrier frequency of the IVS4 4 A-->T mutation of the Fanconi anemia gene FAC in the Ashkenazi Jewish population

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226071

20 March 2017

Regulation of mammalian pyruvate and branched-chain alpha-keto acid dehydrogenase complexes by phosphorylation-dephosphorylation

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226071

20 March 2017

Regional assignment of two genes of the human branched-chain alpha-keto acid dehydrogenase complex: the E1 beta gene (BCKDHB) to chromosome 6p21-22 and the E2 gene (DBT) to chromosome 1p31

3 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226071

20 March 2017

https://api.crossref.org/works/10.1086/323677

7 January 2021

based on heuristic

inferred from DOI database lookup

A new syndrome: progressive familial infantile cerebral dysfunction associated with an unusual urinary substance.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226071

27 September 2017

Biochemical basis of type IB (E1beta ) mutations in maple syrup urine disease. A prevalent allele in patients from the Druze kindred in Israel

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226071

27 September 2017

Fanconi anemia: genetic testing in Ashkenazi Jews

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226071

27 September 2017

Niemann-Pick disease: mutation update, genotype/phenotype correlations, and prospects for genetic testing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226071

27 September 2017

Intellectual outcome in children with maple syrup urine disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226071

30 May 2018

Cerebral edema causing death in children with maple syrup urine disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226071

30 May 2018

Human mutations affecting branched chain alpha-ketoacid dehydrogenase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226071

29 November 2018

Cerebral edema in maple syrup urine disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226071

29 November 2018

Molecular genetic characterization of maple syrup urine disease in European families.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1226071

29 November 2018

Carrier frequency of the Bloom syndrome blmAsh mutation in the Ashkenazi Jewish population

1 reference

https://pubmed.ncbi.nlm.nih.gov/11509994

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

MAPLE SYRUP URINE DISEASE, WITH PARTICULAR REFERENCE TO DIETOTHERAPY

1 reference

https://pubmed.ncbi.nlm.nih.gov/11509994

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

release_z7ew66xfr5cxxbnvpb7iqwf4oa

0 references

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

4 July 2017

ResearchGate publication ID

0 references

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