Silico analysis of a novel mutation c.550delT in a Chinese patient with maple syrup urine disease

Twelve days after birth, the child was admitted to hospital because of “poor response, lethargy, and poor appetite for 6 days” and developed into coma immediately. The ventilator is required. The urine had significant maple syrup odor. After different diagnosis, she was diagnosed with classical mapl...

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Detalles Bibliográficos
Autores principales: Li, Wenjie, Meng, Xianze, Wang, Weiqing, Lv, Jinfeng, Sun, Yingmei, Lv, Yanan, Wang, Caijuan, Wang, Hongqin, Wang, Mei, Song, Dongpo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6186878/
https://www.ncbi.nlm.nih.gov/pubmed/30349713
http://dx.doi.org/10.1002/ccr3.1774
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author Li, Wenjie
Meng, Xianze
Wang, Weiqing
Lv, Jinfeng
Sun, Yingmei
Lv, Yanan
Wang, Caijuan
Wang, Hongqin
Wang, Mei
Song, Dongpo
author_facet Li, Wenjie
Meng, Xianze
Wang, Weiqing
Lv, Jinfeng
Sun, Yingmei
Lv, Yanan
Wang, Caijuan
Wang, Hongqin
Wang, Mei
Song, Dongpo
author_sort Li, Wenjie
collection PubMed
description Twelve days after birth, the child was admitted to hospital because of “poor response, lethargy, and poor appetite for 6 days” and developed into coma immediately. The ventilator is required. The urine had significant maple syrup odor. After different diagnosis, she was diagnosed with classical maple syrup urine disease.
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spelling pubmed-61868782018-10-22 Silico analysis of a novel mutation c.550delT in a Chinese patient with maple syrup urine disease Li, Wenjie Meng, Xianze Wang, Weiqing Lv, Jinfeng Sun, Yingmei Lv, Yanan Wang, Caijuan Wang, Hongqin Wang, Mei Song, Dongpo Clin Case Rep Case Reports Twelve days after birth, the child was admitted to hospital because of “poor response, lethargy, and poor appetite for 6 days” and developed into coma immediately. The ventilator is required. The urine had significant maple syrup odor. After different diagnosis, she was diagnosed with classical maple syrup urine disease. John Wiley and Sons Inc. 2018-09-03 /pmc/articles/PMC6186878/ /pubmed/30349713 http://dx.doi.org/10.1002/ccr3.1774 Text en © 2018 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Li, Wenjie
Meng, Xianze
Wang, Weiqing
Lv, Jinfeng
Sun, Yingmei
Lv, Yanan
Wang, Caijuan
Wang, Hongqin
Wang, Mei
Song, Dongpo
Silico analysis of a novel mutation c.550delT in a Chinese patient with maple syrup urine disease
title Silico analysis of a novel mutation c.550delT in a Chinese patient with maple syrup urine disease
title_full Silico analysis of a novel mutation c.550delT in a Chinese patient with maple syrup urine disease
title_fullStr Silico analysis of a novel mutation c.550delT in a Chinese patient with maple syrup urine disease
title_full_unstemmed Silico analysis of a novel mutation c.550delT in a Chinese patient with maple syrup urine disease
title_short Silico analysis of a novel mutation c.550delT in a Chinese patient with maple syrup urine disease
title_sort silico analysis of a novel mutation c.550delt in a chinese patient with maple syrup urine disease
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6186878/
https://www.ncbi.nlm.nih.gov/pubmed/30349713
http://dx.doi.org/10.1002/ccr3.1774
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