(Q44740533)

English

A novel deletion creating a new terminal exon of the dihydrolipoyl transacylase gene is a founder mutation of Filipino maple syrup urine disease

scientific article published in February 2004

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

5 December 2017

A novel deletion creating a new terminal exon of the dihydrolipoyl transacylase gene is a founder mutation of Filipino maple syrup urine disease (English)

1 reference

Europe PubMed Central

PubMed publication ID

5 December 2017

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Carmencita D. Padilla

2

object named as

Carmencita D Padilla

1 reference

Europe PubMed Central

PubMed publication ID

5 December 2017

author name string

Catherine Lynn T Silao

1

1 reference

Europe PubMed Central

PubMed publication ID

5 December 2017

Masafumi Matsuo

3

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Europe PubMed Central

PubMed publication ID

5 December 2017

publication date

1 February 2004

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Europe PubMed Central

PubMed publication ID

5 December 2017

Molecular Genetics and Metabolism

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Europe PubMed Central

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5 December 2017

81

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Europe PubMed Central

PubMed publication ID

5 December 2017

2

1 reference

Europe PubMed Central

PubMed publication ID

5 December 2017

100-104

1 reference

Europe PubMed Central

PubMed publication ID

5 December 2017

Prospective study of maple-syrup-urine disease for the first four days of life

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.10.006

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.10.006

7 January 2021

Identification of specific subunits of highly purified bovine liver branched-chain ketoacid dehydrogenase

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.10.006

7 January 2021

Human mutations affecting branched chain alpha-ketoacid dehydrogenase

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.10.006

7 January 2021

Gene preference in maple syrup urine disease

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.10.006

7 January 2021

Heterogeneity of mutations in Maple Syrup Urine Disease (MSUD): screening and identification of affected E1α and E1β subunits of the branched-chain α-keto-acid dehydrogenase multienzyme complex

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.10.006

7 January 2021

Diagnosis and treatment of maple syrup disease: a study of 36 patients

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.10.006

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.10.006

7 January 2021

E2 transacylase-deficient (type II) maple syrup urine disease. Aberrant splicing of E2 mRNA caused by internal intronic deletions and association with thiamine-responsive phenotype

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.10.006

7 January 2021

Exon skipping during splicing of dystrophin mRNA precursor due to an intraexon deletion in the dystrophin gene of Duchenne muscular dystrophy kobe

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.10.006

7 January 2021

Branched chain acyltransferase absence due to an Alu-based genomic deletion allele and an exon skipping allele in a compound heterozygote proband expressing maple syrup urine disease

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.10.006

7 January 2021

Non-homologous recombination between Alu and LINE-1 repeats caused a 430-kb deletion in the dystrophin gene: a novel source of genomic instability

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.10.006

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2003.10.006

7 January 2021

Identifiers

10.1016/J.YMGME.2003.10.006

1 reference

Europe PubMed Central

PubMed publication ID

5 December 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

5 December 2017

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