PMC Links for Nucleotide (Select 1676453083) - PMC - NCBI

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Items: 4

Select item 67376651.

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

Abstract Article PDF–1.1M

Select item 41352332.

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

Abstract Article PDF–1.3M

Select item 16831233.

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

Summary Page Browse PDF–1.5M

Select item 4571554.

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

Summary Page Browse PDF–1.6M

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