PMC Links for Nucleotide (Select 223972679) - PMC - NCBI

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Items: 5

Select item 41352331.

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

Article PDF–1.3M

Select item 4571552.

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

Select item 69660623.

A novel compound heterozygous GAA mutation in a Chinese family with juvenile onset form of Pompe disease with cardiomyopathy

Lingling Xu, Lidan Zhang, Liangying Zhong, Xueqiong Huang, Suping Li, Yucai Cheng, Yujian Liang, Yuxin Pei, Huimin Huang, Wen Tang, Cheng Zhang

Int J Clin Exp Pathol. 2017; 10(12): 11995–12002. Published online 2017 Dec 1.

PMCID:: PMC6966062

Article PDF–695K

Select item 68525364.

GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry

Arnold J. J. Reuser, Ans T. van der Ploeg, Yin‐Hsiu Chien, Juan Llerena, Jr., Mary‐Alice Abbott, Paula R. Clemens, Virginia E. Kimonis, Nancy Leslie, Sonia S. Maruti, Bernd‐Jan Sanson, Roberto Araujo, Magali Periquet, Antonio Toscano, Priya S. Kishnani, on behalf of the Pompe Registry Sites

Hum Mutat. 2019 Nov; 40(11): 2146–2164. Published online 2019 Aug 7. doi: 10.1002/humu.23878

PMCID:: PMC6852536

Article PDF–1.6M

Select item 38518255.

Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship

Simone Sampaolo, Teresa Esposito, Olimpia Farina, Daniela Formicola, Daria Diodato, Fernando Gianfrancesco, Federica Cipullo, Gaetana Cremone, Mario Cirillo, Luca Del Viscovo, Antonio Toscano, Corrado Angelini, Giuseppe Di Iorio

Orphanet J Rare Dis. 2013; 8: 159. Published online 2013 Oct 10. doi: 10.1186/1750-1172-8-159

PMCID:: PMC3851825

Article PDF–2.6M

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