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 Issue: Volume: Page:
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Author:

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

Publisher

Elsevier BV

Reference48 articles.

1. Classical maple syrup urine disease and brain development: Principles of management and formula design;K A Strauss;Molecular Genetics and Metabolism,2010

2. Branched-Chain Amino Acids : Metabolism , Physiological Function , and Application Lessons from Genetic Disorders of Branched-Chain Amino;D T Chuang;The Journal of Nutrition,2006

3. A Novel Regulatory Defect in the Branched-Chain ?-Keto Acid Dehydrogenase Complex Due to a Mutation in the PPM1K Gene Causes a Mild Variant Phenotype of Maple Syrup Urine Disease;A Oyarzabal;Human Mutation,2013

4. Identification of six novel mutations in Iranian patients with maple syrup urine disease and their in silico analysis;M Abiri;Mutation Research -Fundamental and Molecular Mechanisms of Mutagenesis,2016

5. Genetic analysis by targeted nextgeneration sequencing and novel variation identification of maple syrup urine disease in Chinese Han population;X Fang;Scientific Reports,2021

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