Maple syrup urine disease diagnosis in Brazilian patients by massive parallel sequencing-Reference-Cited by-同舟云学术

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Maple syrup urine disease diagnosis in Brazilian patients by massive parallel sequencing

Published:2024-09 Issue:1-2 Volume:143 Page:108569
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Tresbach Rafael Hencke,Sperb-Ludwig Fernanda,Ligabue-Braun Rodrigo,Bitencourt Fernanda Hendges de,Tonon Tássia,Souza Carolina Fischinger Moura de,Poswar Fabiano de Oliveira,Leite Maria Efigênia de Queiroz,Amorim Tatiana,Porta Gilda,Seda Neto João,Miura Irene Kazumi,Steiner Carlos Eduardo,Martins Ana Maria,Pessoa André Luiz Santos,Ribeiro Erlane Marques,Schwartz Ida Vanessa Doederlein

Funder

CNPq

INAGEMP

CAPES

Publisher

Elsevier BV

Reference52 articles.

1. Classical maple syrup urine disease and brain development: principles of management and formula design;Strauss;Mol. Genet. Metab.,2010

2. Branched-chain amino acids: metabolism, physiological function, and application lessons from genetic disorders of branched-chain amino;Chuang;J. Nutr.,2006

3. A novel regulatory defect in the branched-chain α-keto acid dehydrogenase complex due to a mutation in the PPM 1 K gene causes a mild variant phenotype of maple syrup urine disease;Oyarzabal;Hum. Mutat.,2013

4. Identification of six novel mutations in Iranian patients with maple syrup urine disease and their in silico analysis;Abiri;Mutat. Res.,2016

5. Genetic analysis by targeted next-generation sequencing and novel variation identification of maple syrup urine disease in Chinese Han population;Fang;Sci. Rep.,2021

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