The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients.

Al-Hassnan, Zuhair N; Khalifa, Ola A; Bubshait, Dalal K; Tulbah, Sahar; Alkorashy, Maarab; Alzaidan, Hamad; Alowain, Mohammed; Rahbeeni, Zuhair; Al-Sayed, Moeen

Al-Hassnan, Zuhair N; Khalifa, Ola A; Bubshait, Dalal K; Tulbah, Sahar; Alkorashy, Maarab; Alzaidan, Hamad; Alowain, Mohammed; Rahbeeni, Zuhair; Al-Sayed, Moeen.

Afiliação

Al-Hassnan ZN; Cardiovascular Genetics Program, King Faisal Specialist Hospital & Research Centre (KFSH&RC), Riyadh, Saudi Arabia.
Khalifa OA; Alfaisal University, Riyadh, Saudi Arabia.
Bubshait DK; Department of Medical Genetics, KFSH&RC, Riyadh, Saudi Arabia.
Tulbah S; Genetics Unit, Department of Pediatrics, Faculty of Medicine, Ain Shams University, Cairo, Egypt.
Alkorashy M; Department of Pediatrics, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia.
Alzaidan H; Cardiovascular Genetics Program, King Faisal Specialist Hospital & Research Centre (KFSH&RC), Riyadh, Saudi Arabia.
Alowain M; Department of Medical Genetics, KFSH&RC, Riyadh, Saudi Arabia.
Rahbeeni Z; Department of Genetics, KFSH&RC, Riyadh, Saudi Arabia.
Al-Sayed M; Department of Medical Genetics, KFSH&RC, Riyadh, Saudi Arabia.

Mol Genet Metab Rep ; 15: 50-54, 2018 Jun.

Article em En | MEDLINE | ID: mdl-30023291

Palavras-chave

Enzyme replacement therapy; GAA; Glycogen storage disease type II; Pompe disease

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Screening_studies Idioma: En Revista: Mol Genet Metab Rep Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Arábia Saudita

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