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Acid alpha-glucosidase, allele 2

MedGen UID:
865416
Concept ID:
C4016979
Finding
Synonym: ACID ALPHA-GLUCOSIDASE, ALLELE 2
 
OMIM®: 606800

Professional guidelines

PubMed

Martinez-Montoya V, Sánchez-Sánchez LM, Sandoval-Pacheco R, Castro DMA, Arellano-Valdez CA, Ávila-Rejón CA, Aguilar-Juárez PA, Espino-Pluma M, González-Santillanes CA, Martínez-Segovia RI, Olmos-Morfin D, la Torre OP, Solís-Sánchez I, Espinosa MVM, Villarroel-Cortés CE, Velarde-Félix JS, López-Valdez J, Olaiz-Urbina J, Ricárdez-Marcial E, Vergara-Sánchez I, Radillo-Díaz P, Kazakova E, De la Fuente-Cortez B, Del Carmen Marquez-Quiróz L, Torres-Octavo B, Diaz-Martinez R
Mol Genet Genomic Med 2024 Jul;12(7):e2480. doi: 10.1002/mgg3.2480. PMID: 38958145Free PMC Article
Chan MY, Jalil JA, Yakob Y, Wahab SAA, Ali EZ, Khalid MKNM, Leong HY, Chew HB, Sivabalakrishnan JB, Ngu LH
Orphanet J Rare Dis 2023 Aug 4;18(1):231. doi: 10.1186/s13023-023-02848-6. PMID: 37542277Free PMC Article
Labrousse P, Chien YH, Pomponio RJ, Keutzer J, Lee NC, Akmaev VR, Scholl T, Hwu WL
Mol Genet Metab 2010 Apr;99(4):379-83. Epub 2009 Dec 28 doi: 10.1016/j.ymgme.2009.12.014. PMID: 20080426

Recent clinical studies

Etiology

van der Lienden MJC, Aten J, Boot RG, van Eijk M, Aerts JMFG, Kuo CL
J Cell Biochem 2022 May;123(5):893-905. Epub 2022 Mar 21 doi: 10.1002/jcb.30234. PMID: 35312102Free PMC Article
Reuser AJJ, van der Ploeg AT, Chien YH, Llerena J Jr, Abbott MA, Clemens PR, Kimonis VE, Leslie N, Maruti SS, Sanson BJ, Araujo R, Periquet M, Toscano A, Kishnani PS, On Behalf Of The Pompe Registry Sites
Hum Mutat 2019 Nov;40(11):2146-2164. Epub 2019 Aug 7 doi: 10.1002/humu.23878. PMID: 31342611Free PMC Article
Jastrzębska A, Potulska-Chromik A, Łusakowska A, Jastrzębski M, Lipowska M, Kierdaszuk B, Kamińska A, Kostera-Pruszczyk A
Acta Neurol Scand 2019 Oct;140(4):239-243. Epub 2019 Jun 18 doi: 10.1111/ane.13133. PMID: 31125121
Lee JH, Shin JH, Park HJ, Kim SZ, Jeon YM, Kim HK, Kim DS, Choi YC
Neuromuscul Disord 2017 Jun;27(6):550-556. Epub 2017 Mar 10 doi: 10.1016/j.nmd.2017.03.005. PMID: 28433475
Lin N, Huang J, Violante S, Orsini JJ, Caggana M, Hughes EE, Stevens C, DiAntonio L, Chieh Liao H, Hong X, Ghomashchi F, Babu Kumar A, Zhou H, Kornreich R, Wasserstein M, Gelb MH, Yu C
Clin Chem 2017 Apr;63(4):842-851. Epub 2017 Feb 14 doi: 10.1373/clinchem.2016.259036. PMID: 28196920Free PMC Article

Diagnosis

van der Lienden MJC, Aten J, Boot RG, van Eijk M, Aerts JMFG, Kuo CL
J Cell Biochem 2022 May;123(5):893-905. Epub 2022 Mar 21 doi: 10.1002/jcb.30234. PMID: 35312102Free PMC Article
Niño MY, Wijgerde M, de Faria DOS, Hoogeveen-Westerveld M, Bergsma AJ, Broeders M, van der Beek NAME, van den Hout HJM, van der Ploeg AT, Verheijen FW, Pijnappel WWMP
Eur J Hum Genet 2021 Mar;29(3):434-446. Epub 2020 Nov 8 doi: 10.1038/s41431-020-00752-2. PMID: 33162552Free PMC Article
Reuser AJJ, van der Ploeg AT, Chien YH, Llerena J Jr, Abbott MA, Clemens PR, Kimonis VE, Leslie N, Maruti SS, Sanson BJ, Araujo R, Periquet M, Toscano A, Kishnani PS, On Behalf Of The Pompe Registry Sites
Hum Mutat 2019 Nov;40(11):2146-2164. Epub 2019 Aug 7 doi: 10.1002/humu.23878. PMID: 31342611Free PMC Article
Jastrzębska A, Potulska-Chromik A, Łusakowska A, Jastrzębski M, Lipowska M, Kierdaszuk B, Kamińska A, Kostera-Pruszczyk A
Acta Neurol Scand 2019 Oct;140(4):239-243. Epub 2019 Jun 18 doi: 10.1111/ane.13133. PMID: 31125121
Lin N, Huang J, Violante S, Orsini JJ, Caggana M, Hughes EE, Stevens C, DiAntonio L, Chieh Liao H, Hong X, Ghomashchi F, Babu Kumar A, Zhou H, Kornreich R, Wasserstein M, Gelb MH, Yu C
Clin Chem 2017 Apr;63(4):842-851. Epub 2017 Feb 14 doi: 10.1373/clinchem.2016.259036. PMID: 28196920Free PMC Article

Therapy

van der Meijden JC, Kruijshaar ME, Harlaar L, Rizopoulos D, van der Beek NAME, van der Ploeg AT
J Inherit Metab Dis 2018 Nov;41(6):1205-1214. Epub 2018 Mar 19 doi: 10.1007/s10545-018-0166-3. PMID: 29556838Free PMC Article
Goina E, Peruzzo P, Bembi B, Dardis A, Buratti E
Mol Ther 2017 Sep 6;25(9):2117-2128. Epub 2017 Jun 16 doi: 10.1016/j.ymthe.2017.05.019. PMID: 28629821Free PMC Article
Jansen RJ, Robinson DP, Stolzenberg-Solomon RZ, Bamlet WR, Tan X, Cunningham JM, Li Y, Rider DN, Oberg AL, Rabe KG, Anderson KE, Sinha R, Petersen GM
Pancreas 2013 Oct;42(7):1043-53. doi: 10.1097/MPA.0b013e3182968e00. PMID: 24051964Free PMC Article

Prognosis

Chan MY, Jalil JA, Yakob Y, Wahab SAA, Ali EZ, Khalid MKNM, Leong HY, Chew HB, Sivabalakrishnan JB, Ngu LH
Orphanet J Rare Dis 2023 Aug 4;18(1):231. doi: 10.1186/s13023-023-02848-6. PMID: 37542277Free PMC Article
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
BMC Med Genet 2019 Sep 11;20(1):156. doi: 10.1186/s12881-019-0878-8. PMID: 31510962Free PMC Article
Reuser AJJ, van der Ploeg AT, Chien YH, Llerena J Jr, Abbott MA, Clemens PR, Kimonis VE, Leslie N, Maruti SS, Sanson BJ, Araujo R, Periquet M, Toscano A, Kishnani PS, On Behalf Of The Pompe Registry Sites
Hum Mutat 2019 Nov;40(11):2146-2164. Epub 2019 Aug 7 doi: 10.1002/humu.23878. PMID: 31342611Free PMC Article
van der Meijden JC, Kruijshaar ME, Harlaar L, Rizopoulos D, van der Beek NAME, van der Ploeg AT
J Inherit Metab Dis 2018 Nov;41(6):1205-1214. Epub 2018 Mar 19 doi: 10.1007/s10545-018-0166-3. PMID: 29556838Free PMC Article
Lin N, Huang J, Violante S, Orsini JJ, Caggana M, Hughes EE, Stevens C, DiAntonio L, Chieh Liao H, Hong X, Ghomashchi F, Babu Kumar A, Zhou H, Kornreich R, Wasserstein M, Gelb MH, Yu C
Clin Chem 2017 Apr;63(4):842-851. Epub 2017 Feb 14 doi: 10.1373/clinchem.2016.259036. PMID: 28196920Free PMC Article

Clinical prediction guides

Chan MY, Jalil JA, Yakob Y, Wahab SAA, Ali EZ, Khalid MKNM, Leong HY, Chew HB, Sivabalakrishnan JB, Ngu LH
Orphanet J Rare Dis 2023 Aug 4;18(1):231. doi: 10.1186/s13023-023-02848-6. PMID: 37542277Free PMC Article
Viamonte MA, Filipp SL, Zaidi Z, Gurka MJ, Byrne BJ, Kang PB
J Hum Genet 2021 Nov;66(11):1089-1099. Epub 2021 May 11 doi: 10.1038/s10038-021-00935-9. PMID: 33972680
Reuser AJJ, van der Ploeg AT, Chien YH, Llerena J Jr, Abbott MA, Clemens PR, Kimonis VE, Leslie N, Maruti SS, Sanson BJ, Araujo R, Periquet M, Toscano A, Kishnani PS, On Behalf Of The Pompe Registry Sites
Hum Mutat 2019 Nov;40(11):2146-2164. Epub 2019 Aug 7 doi: 10.1002/humu.23878. PMID: 31342611Free PMC Article
van der Meijden JC, Kruijshaar ME, Harlaar L, Rizopoulos D, van der Beek NAME, van der Ploeg AT
J Inherit Metab Dis 2018 Nov;41(6):1205-1214. Epub 2018 Mar 19 doi: 10.1007/s10545-018-0166-3. PMID: 29556838Free PMC Article
Lin N, Huang J, Violante S, Orsini JJ, Caggana M, Hughes EE, Stevens C, DiAntonio L, Chieh Liao H, Hong X, Ghomashchi F, Babu Kumar A, Zhou H, Kornreich R, Wasserstein M, Gelb MH, Yu C
Clin Chem 2017 Apr;63(4):842-851. Epub 2017 Feb 14 doi: 10.1373/clinchem.2016.259036. PMID: 28196920Free PMC Article

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