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Items: 4

1.
Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand
Lukana Ngiwsara, Duangrurdee Wattanasirichaigoon, Thipwimol Tim-Aroon, Kitiwan Rojnueangnit, Saisuda Noojaroen, Arthaporn Khongkraparn, Phannee Sawangareetrakul, James R. Ketudat-Cairns, Ratana Charoenwattanasatien, Voraratt Champattanachai, Chulaluck Kuptanon, Suthipong Pangkanon, Jisnuson Svasti
BMC Med Genet. 2019; 20: 156. Published online 2019 Sep 11. doi: 10.1186/s12881-019-0878-8
PMCID:
PMC6737665
AbstractArticlePDF–1.1M
2.
Pompe disease: from pathophysiology to therapy and back again
Jeong-A Lim, Lishu Li, Nina Raben
Front Aging Neurosci. 2014; 6: 177. Prepublished online 2014 Jul 3. Published online 2014 Jul 23. doi: 10.3389/fnagi.2014.00177
PMCID:
PMC4135233
AbstractArticlePDF–1.3M
3.
Identification of a missense mutation in one allele of a patient with Pompe disease, and use of endonuclease digestion of PCR-amplified RNA to demonstrate lack of mRNA expression from the second allele.
N Zhong, F Martiniuk, S Tzall, R Hirschhorn
Am J Hum Genet. 1991 Sep; 49(3): 635–645.
PMCID:
PMC1683123
SummaryPage BrowsePDF–1.5M
4.
Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex.
L H Hoefsloot, M Hoogeveen-Westerveld, M A Kroos, J van Beeumen, A J Reuser, B A Oostra
EMBO J. 1988 Jun; 7(6): 1697–1704. doi: 10.1002/j.1460-2075.1988.tb02998.x
PMCID:
PMC457155
SummaryPage BrowsePDF–1.6M

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