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Metabolic and genetic assessments interpret unexplained aggressive pulmonary hypertension induced by methylmalonic acidemia: A case report

BACKGROUND: Pulmonary hypertension (PH) causes significant morbidity and mortality in diverse childhood diseases. However, limited information has been reported to obtain a good understanding of pediatric PH. Gaps exist between genome sequencing and metabolic assessments and lead to misinterpretatio...

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Detalles Bibliográficos
Autores principales: Liao, Hong-Yu, Shi, Xiao-Qing, Li, Yi-Fei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7103965/
https://www.ncbi.nlm.nih.gov/pubmed/32258084
http://dx.doi.org/10.12998/wjcc.v8.i6.1137