Successful heart transplantation in an infant with phosphoglucomutase 1 deficiency (PGM1-CDG).

Altassan, Ruqaiah; Albert-Brotons, Dimpna C; Alowain, Mohammad; Al-Halees, Zohair; Jaeken, Jaak; Morava, Eva

Altassan, Ruqaiah; Albert-Brotons, Dimpna C; Alowain, Mohammad; Al-Halees, Zohair; Jaeken, Jaak; Morava, Eva.

Afiliação

Altassan R; Department of Medical Genomics, Centre for Genomic Medicine King Faisal Specialist Hospital and Research Centre Riyadh Saudi Arabia.
Albert-Brotons DC; College of Medicine Alfasial University Riyadh Saudi Arabia.
Alowain M; Department of Clinical Genomics Mayo Clinic Rochester Minnesota USA.
Al-Halees Z; Department of Cardiology, Heart Centre King Faisal Specialist Hospital and Research Centre Riyadh Saudi Arabia.
Jaeken J; Department of Medical Genomics, Centre for Genomic Medicine King Faisal Specialist Hospital and Research Centre Riyadh Saudi Arabia.
Morava E; College of Medicine Alfasial University Riyadh Saudi Arabia.

JIMD Rep ; 64(2): 123-128, 2023 Mar.

Article em En | MEDLINE | ID: mdl-36873091

Palavras-chave

Dgalactose; PGM1CDG; congenital disorders of glycosylation; heart transplantation; ventricular noncompaction

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: JIMD Rep Ano de publicação: 2023 Tipo de documento: Article

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: JIMD Rep Ano de publicação: 2023 Tipo de documento: Article