PMC Links for OMIM (Select 232300) - PMC

Result Filters

Links from OMIM

Items: 1 to 20 of 21

<< First< Prev

Page of 2

Select item 108807441.

Premature Pubarche in Children with Pompe Disease

Queenie K.-G. Tan, David W. Stockton, Eniko Pivnick, Asim F. Choudhri, Stacy Hines-Dowell, Loren D. M. Pena, Melissa A. Deimling, Michael S. Freemark, Priya S. Kishnani

J Pediatr. Author manuscript; available in PMC 2024 Feb 21.

Published in final edited form as: J Pediatr. 2015 Apr; 166(4): 1075–8.e1. Published online 2015 Feb 14. doi: 10.1016/j.jpeds.2014.12.074

PMCID:: PMC10880744

Article PDF–582K

Select item 93100532.

Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32–13 T > G variant

Mrudu Herbert, Laura E. Case, Mugdha Rairikar, Heidi Cope, Lauren Bailey, Stephanie L. Austin, Priya S. Kishnani

Mol Genet Metab. Author manuscript; available in PMC 2022 Jul 25.

Published in final edited form as: Mol Genet Metab. 2019 Feb; 126(2): 106–116. Published online 2018 Aug 23. doi: 10.1016/j.ymgme.2018.08.009

PMCID:: PMC9310053

Article PDF–458K

Select item 74553593.

Novel approaches to quantify CNS involvement in children with Pompe disease

Aditi Korlimarla, Gail A. Spiridigliozzi, Kelly Crisp, Mrudu Herbert, Steven Chen, Michael Malinzak, Mihaela Stefanescu, Stephanie L. Austin, Heidi Cope, Kanecia Zimmerman, Harrison Jones, James M. Provenzale, Priya S. Kishnani

Neurology. 2020 Aug 11; 95(6): e718–e732. doi: 10.1212/WNL.0000000000009979

PMCID:: PMC7455359

Article PDF–323K

Select item 62813834.

Restoration of muscle functionality by genetic suppression of glycogen synthesis in a murine model of Pompe disease

Gaelle Douillard-Guilloux, Nina Raben, Shoichi Takikita, Arnaud Ferry, Alban Vignaud, Isabelle Guillet-Deniau, Maryline Favier, Beth L. Thurberg, Peter J. Roach, Catherine Caillaud, Emmanuel Richard

Hum Mol Genet. 2010 Feb 15; 19(4): 684–696. Published online 2009 Dec 3. doi: 10.1093/hmg/ddp535

PMCID:: PMC6281383

Article PDF–505K

Select item 39546225.

The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: Lessons learned from infantile Pompe disease

Suhrad G. Banugaria, Sean N. Prater, Yiu-Ki Ng, Joyce A. Kobori, Richard S. Finkel, Roger L. Ladda, Yuan-Tsong Chen, Amy S. Rosenberg, Priya S. Kishnani

Genet Med. Author manuscript; available in PMC 2014 Mar 14.

Published in final edited form as: Genet Med. 2011 Aug; 13(8): 729–736. doi: 10.1097/GIM.0b013e3182174703

PMCID:: PMC3954622

Article PDF–2.1M

Select item 39475036.

The emerging phenotype of long-term survivors with infantile Pompe disease

Sean N. Prater, Suhrad G. Banugaria, Stephanie M. DeArmey, Eleanor G. Botha, Erin M. Stege, Laura E. Case, Harrison N. Jones, Chanika Phornphutkul, Raymond Y. Wang, Sarah P. Young, Priya S. Kishnani

Genet Med. Author manuscript; available in PMC 2014 Mar 9.

Published in final edited form as: Genet Med. 2012 Sep; 14(9): 800–810. Published online 2012 Apr 26. doi: 10.1038/gim.2012.44

PMCID:: PMC3947503

Article PDF–236K

Select item 31388127.

Cardiovascular Abnormalities in Late Onset Pompe Disease and Response to Enzyme Replacement Therapy

Daniel Forsha, Jennifer S. Li, P. Brian Smith, Ans T. van der Ploeg, Priya Kishnani, Sara K. Pasquali

Genet Med. Author manuscript; available in PMC 2011 Jul 18.

Published in final edited form as: Genet Med. 2011 Jul; 13(7): 625–631. doi: 10.1097/GIM.0b013e3182142966

PMCID:: PMC3138812

Article PDF–301K

Select item 26950548.

Neural deficits contribute to respiratory insufficiency in Pompe disease

Lara R. DeRuisseau, David D. Fuller, Kai Qiu, Keith C. DeRuisseau, William H. Donnelly, Jr, Cathryn Mah, Paul J. Reier, Barry J. Byrne

Proc Natl Acad Sci U S A. 2009 Jun 9; 106(23): 9419–9424. Published online 2009 May 27. doi: 10.1073/pnas.0902534106

PMCID:: PMC2695054

Article PDF–463K

Select item 18012069.

Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.

C F Boerkoel, R Exelbert, C Nicastri, R C Nichols, F W Miller, P H Plotz, N Raben

Am J Hum Genet. 1995 Apr; 56(4): 887–897.

PMCID:: PMC1801206

Summary Page Browse PDF–2.1M

Select item 168555510.

Biochemical, immunological, and cell genetic studies in glycogenosis type II.

A J Reuser, J F Koster, A Hoogeveen, H Galjaard

Am J Hum Genet. 1978 Mar; 30(2): 132–143.

PMCID:: PMC1685555

Summary Page Browse PDF–1.1M

Select item 168548511.

Genetic heterogeneity in acid alpha-glucosidase deficiency.

N G Beratis, G U LaBadie, K Hirschhorn

Am J Hum Genet. 1983 Jan; 35(1): 21–33.

PMCID:: PMC1685485

Summary Page Browse PDF–1.5M

Select item 168387912.

Identification of the base-pair substitution responsible for a human acid alpha glucosidase allele with lower "affinity" for glycogen (GAA 2) and transient gene expression in deficient cells.

F Martiniuk, M Bodkin, S Tzall, R Hirschhorn

Am J Hum Genet. 1990 Sep; 47(3): 440–445.

PMCID:: PMC1683879

Summary Page Browse PDF–1.1M

Select item 168353713.

Adult and infantile glycogenosis type II in one family, explained by allelic diversity.

L H Hoefsloot, A T van der Ploeg, M A Kroos, M Hoogeveen-Westerveld, B A Oostra, A J Reuser

Am J Hum Genet. 1990 Jan; 46(1): 45–52.

PMCID:: PMC1683537

Summary Page Browse PDF–1.5M

Select item 137702814.

The African origin of the common mutation in African American patients with glycogen-storage disease type II.

J A Becker, J Vlach, N Raben, K Nagaraju, E M Adams, M M Hermans, A J Reuser, S S Brooks, C J Tifft, R Hirschhorn, M L Huie, M Nicolino, P H Plotz

Am J Hum Genet. 1998 Apr; 62(4): 991–994. doi: 10.1086/301788

PMCID:: PMC1377028

Summary PDF–593K

Select item 120170315.

α-Glucosidase deficiency in generalized glycogen-storage disease (Pompe's disease)

H. G. Hers

Biochem J. 1963 Jan; 86(1): 11–16. doi: 10.1042/bj0860011

PMCID:: PMC1201703

Summary Page Browse PDF–971K

Select item 105172016.

Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients.

M A Kroos, M Van der Kraan, O P Van Diggelen, W J Kleijer, A J Reuser, M J Van den Boogaard, M G Ausems, H K Ploos van Amstel, L Poenaru, M Nicolino, et al.

J Med Genet. 1995 Oct; 32(10): 836–837. doi: 10.1136/jmg.32.10.836-a