Novel Compound Heterozygous PKLR Mutation Induced Pyruvate Kinase Deficiency With Persistent Pulmonary Hypertension in a Neonate: A Case Report

BACKGROUND: Pulmonary hypertension could be associated with pyruvate kinase deficiency (PKD). There are few reported cases of PPHN as the first clinical manifestation of PKD. Herein we report a rare case of PKD in which the patient exhibited persistent pulmonary hypertension in the neonate (PPHN), a...

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Detalles Bibliográficos
Autores principales: Lin, Sha, Hua, Xintian, Li, Jinrong, Li, Yifei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Cardiovascular Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9086540/
https://www.ncbi.nlm.nih.gov/pubmed/35557523
http://dx.doi.org/10.3389/fcvm.2022.872172

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9086540/
https://www.ncbi.nlm.nih.gov/pubmed/35557523
http://dx.doi.org/10.3389/fcvm.2022.872172

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