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Year | Number of Results |
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2008 | 1 |
2013 | 1 |
2017 | 1 |
2019 | 1 |
2024 | 0 |
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Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.
Mol Genet Metab. 2017 Dec;122(4):189-197. doi: 10.1016/j.ymgme.2017.10.008. Epub 2017 Oct 17.
Mol Genet Metab. 2017.
PMID: 29122469
Free PMC article.
Early administration of enzyme replacement therapy for Pompe disease: short-term follow-up results.
Hamdan MA, Almalik MH, Mirghani HM.
Hamdan MA, et al.
J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S431-6. doi: 10.1007/s10545-008-1000-0. Epub 2008 Dec 12.
J Inherit Metab Dis. 2008.
PMID: 19067231
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The Identification of Pompe Disease Mutations in Archival Tissues and Development of a Rapid Molecular-based Test.
Alansari A, Al-Rawahi S, Ba-Omar T, Al-Nabhani M, Date A.
Alansari A, et al.
Sultan Qaboos Univ Med J. 2013 Nov;13(4):502-9. doi: 10.12816/0003308. Epub 2013 Nov 8.
Sultan Qaboos Univ Med J. 2013.
PMID: 24273659
Free PMC article.
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Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand.
Ngiwsara L, Wattanasirichaigoon D, Tim-Aroon T, Rojnueangnit K, Noojaroen S, Khongkraparn A, Sawangareetrakul P, Ketudat-Cairns JR, Charoenwattanasatien R, Champattanachai V, Kuptanon C, Pangkanon S, Svasti J.
Ngiwsara L, et al.
BMC Med Genet. 2019 Sep 11;20(1):156. doi: 10.1186/s12881-019-0878-8.
BMC Med Genet. 2019.
PMID: 31510962
Free PMC article.
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