Molecular basis of various forms of maple syrup urine disease in Chilean patients

Autor: Diana Ruffato Resende Campanholi, Ana Vitoria Barban Margutti, Wilson A. Silva Jr, Daniel F. Garcia, Greice A. Molfetta, Adriana A. Marques, Ida Vanessa Döederlein Schwartz, V. Cornejo, Valerie Hamilton, Gabriela Castro, Fernanda Sperb‐Ludwig, Ester S. Borges, José S. Camelo Jr

Publikováno v: Molecular Genetics & Genomic Medicine, Vol 9, Iss 5, Pp n/a-n/a (2021)

ABSTRACT Background Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder caused by the deficient activity of the branched‐chain α‐keto acid dehydrogenase (BCKD) enzymatic complex. BCKD is a mitochondrial comple

Externí odkaz: https://doaj.org/article/8cd15723dba14972b937aae7e4a418b1

Molecular basis of various forms of maple syrup urine disease in Chilean patients

Autor: Adriana Aparecida Marques, Gabriela Castro, Greice Andreotti de Molfetta, Daniel F. Garcia, Ester Simon Borges, Valerie Hamilton, Wilson A. Silva, Ida Vanessa Doederlein Schwartz, Ana Vitoria Barban Margutti, Verónica Cornejo, José Simon Camelo, Fernanda Sperb-Ludwig, Diana Ruffato Resende Campanholi

Publikováno v: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 5, Pp n/a-n/a (2021)
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP

Background Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder caused by the deficient activity of the branched‐chain α‐keto acid dehydrogenase (BCKD) enzymatic complex. BCKD is a mitochondrial complex encoded

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e1d3b07c59d776876d80afad19403b8
http://europepmc.org/articles/PMC8172190

Identification of Four New Mutations in Chilean Patients with Various Forms of Maple Syrup Urine Disease and Genotype-Phenotype Correlations

Autor: Diana Ruffato Resende Campanholi, Ana Vitoria Barban Margutti, Wilson Araújo Silva, Daniel Fantozzi Garcia, Greice Andreotti de Molfetta, Adriana Aparecida Marques, Ida Vanessa Döederlein Schwartz, Veronica Cornejo, Valerie Hamilton, Gabriela Castro, Ester Simon Borges, José Simon Camelo Junior

Background: Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disease caused by deficient activity of the branched-chain α-keto acid dehydrogenase (BCKD) enzymatic complex. BCKD is a mitochondrial complex encoded by four

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4d7548a87fb5207e1399e81fea8ee780
https://doi.org/10.21203/rs.2.18080/v1

PP246-MON: Galactose Oxidation Using C in Healthy and Galactosemic Children

Autor: Diana Ruffato Resende Campanholi, J.S. Camelo Junior

Publikováno v: Clinical Nutrition. 33:S221

Rationale: This research aimed to assess if the breath test using 13C-galactose can discriminate healthy children from galactosemic children. Methods: Objectives: (1) Set a cut off point for detecting galactosemia through breath test by constructing

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::025430ea3e4c6f495bd9003d2acdd851
https://doi.org/10.1016/s0261-5614(14)50580-8