Etiology
Goldstein JL,
McGlaughon J,
Kanavy D,
Goomber S,
Pan Y,
Deml B,
Donti T,
Kearns L,
Seifert BA,
Schachter M,
Son RG,
Thaxton C,
Udani R,
Bali D,
Baudet H,
Caggana M,
Hung C,
Kyriakopoulou L,
Rosenblum L,
Steiner R,
Pinto E Vairo F,
Wang Y,
Watson M,
Fernandez R,
Weaver M,
Clarke L,
Rehder C
Mol Genet Metab
2023 Sep-Oct;140(1-2):107715.
Epub 2023 Oct 26
doi: 10.1016/j.ymgme.2023.107715.
PMID: 37907381Free PMC Article
Hannah WB,
Derks TGJ,
Drumm ML,
Grünert SC,
Kishnani PS,
Vissing J
Nat Rev Dis Primers
2023 Sep 7;9(1):46.
doi: 10.1038/s41572-023-00456-z.
PMID: 37679331
Derks TGJ,
Rodriguez-Buritica DF,
Ahmad A,
de Boer F,
Couce ML,
Grünert SC,
Labrune P,
López Maldonado N,
Fischinger Moura de Souza C,
Riba-Wolman R,
Rossi A,
Saavedra H,
Gupta RN,
Valayannopoulos V,
Mitchell J
Nutrients
2021 Oct 27;13(11)
doi: 10.3390/nu13113828.
PMID: 34836082Free PMC Article
Davison JE
J Mother Child
2020 Oct 2;24(2):3-8.
doi: 10.34763/jmotherandchild.20202402si.2001.000002.
PMID: 33554498Free PMC Article
Platt FM,
d'Azzo A,
Davidson BL,
Neufeld EF,
Tifft CJ
Nat Rev Dis Primers
2018 Oct 1;4(1):27.
doi: 10.1038/s41572-018-0025-4.
PMID: 30275469
Diagnosis
Hannah WB,
Derks TGJ,
Drumm ML,
Grünert SC,
Kishnani PS,
Vissing J
Nat Rev Dis Primers
2023 Sep 7;9(1):46.
doi: 10.1038/s41572-023-00456-z.
PMID: 37679331
Davison JE
J Mother Child
2020 Oct 2;24(2):3-8.
doi: 10.34763/jmotherandchild.20202402si.2001.000002.
PMID: 33554498Free PMC Article
Taverna S,
Cammarata G,
Colomba P,
Sciarrino S,
Zizzo C,
Francofonte D,
Zora M,
Scalia S,
Brando C,
Curto AL,
Marsana EM,
Olivieri R,
Vitale S,
Duro G
Aging (Albany NY)
2020 Aug 3;12(15):15856-15874.
doi: 10.18632/aging.103794.
PMID: 32745073Free PMC Article
Bay LB,
Denzler I,
Durand C,
Eiroa H,
Frabasil J,
Fainboim A,
Maxit C,
Schenone A,
Spécola N
Arch Argent Pediatr
2019 Aug 1;117(4):271-278.
doi: 10.5546/aap.2019.eng.271.
PMID: 31339275
van der Ploeg AT,
Reuser AJ
Lancet
2008 Oct 11;372(9646):1342-53.
doi: 10.1016/S0140-6736(08)61555-X.
PMID: 18929906
Therapy
Labella B,
Cotti Piccinelli S,
Risi B,
Caria F,
Damioli S,
Bertella E,
Poli L,
Padovani A,
Filosto M
Biomolecules
2023 Aug 22;13(9)
doi: 10.3390/biom13091279.
PMID: 37759679Free PMC Article
Blair HA
Drugs
2023 Jun;83(8):739-745.
doi: 10.1007/s40265-023-01886-5.
PMID: 37184753Free PMC Article
Davison JE
J Mother Child
2020 Oct 2;24(2):3-8.
doi: 10.34763/jmotherandchild.20202402si.2001.000002.
PMID: 33554498Free PMC Article
Meena NK,
Raben N
Biomolecules
2020 Sep 18;10(9)
doi: 10.3390/biom10091339.
PMID: 32962155Free PMC Article
van der Ploeg AT,
Reuser AJ
Lancet
2008 Oct 11;372(9646):1342-53.
doi: 10.1016/S0140-6736(08)61555-X.
PMID: 18929906
Prognosis
Hannah WB,
Derks TGJ,
Drumm ML,
Grünert SC,
Kishnani PS,
Vissing J
Nat Rev Dis Primers
2023 Sep 7;9(1):46.
doi: 10.1038/s41572-023-00456-z.
PMID: 37679331
Derks TGJ,
Rodriguez-Buritica DF,
Ahmad A,
de Boer F,
Couce ML,
Grünert SC,
Labrune P,
López Maldonado N,
Fischinger Moura de Souza C,
Riba-Wolman R,
Rossi A,
Saavedra H,
Gupta RN,
Valayannopoulos V,
Mitchell J
Nutrients
2021 Oct 27;13(11)
doi: 10.3390/nu13113828.
PMID: 34836082Free PMC Article
Meena NK,
Raben N
Biomolecules
2020 Sep 18;10(9)
doi: 10.3390/biom10091339.
PMID: 32962155Free PMC Article
Platt FM,
d'Azzo A,
Davidson BL,
Neufeld EF,
Tifft CJ
Nat Rev Dis Primers
2018 Oct 1;4(1):27.
doi: 10.1038/s41572-018-0025-4.
PMID: 30275469
van der Ploeg AT,
Reuser AJ
Lancet
2008 Oct 11;372(9646):1342-53.
doi: 10.1016/S0140-6736(08)61555-X.
PMID: 18929906
Clinical prediction guides
Kishnani PS,
Diaz-Manera J,
Toscano A,
Clemens PR,
Ladha S,
Berger KI,
Kushlaf H,
Straub V,
Carvalho G,
Mozaffar T,
Roberts M,
Attarian S,
Chien YH,
Choi YC,
Day JW,
Erdem-Ozdamar S,
Illarioshkin S,
Goker-Alpan O,
Kostera-Pruszczyk A,
van der Ploeg AT,
An Haack K,
Huynh-Ba O,
Tammireddy S,
Thibault N,
Zhou T,
Dimachkie MM,
Schoser B;
COMET Investigator Group
JAMA Neurol
2023 Jun 1;80(6):558-567.
doi: 10.1001/jamaneurol.2023.0552.
PMID: 37036722Free PMC Article
Schoser B,
Roberts M,
Byrne BJ,
Sitaraman S,
Jiang H,
Laforêt P,
Toscano A,
Castelli J,
Díaz-Manera J,
Goldman M,
van der Ploeg AT,
Bratkovic D,
Kuchipudi S,
Mozaffar T,
Kishnani PS;
PROPEL Study Group
Lancet Neurol
2021 Dec;20(12):1027-1037.
doi: 10.1016/S1474-4422(21)00331-8.
PMID: 34800400
Diaz-Manera J,
Kishnani PS,
Kushlaf H,
Ladha S,
Mozaffar T,
Straub V,
Toscano A,
van der Ploeg AT,
Berger KI,
Clemens PR,
Chien YH,
Day JW,
Illarioshkin S,
Roberts M,
Attarian S,
Borges JL,
Bouhour F,
Choi YC,
Erdem-Ozdamar S,
Goker-Alpan O,
Kostera-Pruszczyk A,
Haack KA,
Hug C,
Huynh-Ba O,
Johnson J,
Thibault N,
Zhou T,
Dimachkie MM,
Schoser B;
COMET Investigator Group
Lancet Neurol
2021 Dec;20(12):1012-1026.
doi: 10.1016/S1474-4422(21)00241-6.
PMID: 34800399
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
Cupler EJ,
Berger KI,
Leshner RT,
Wolfe GI,
Han JJ,
Barohn RJ,
Kissel JT;
AANEM Consensus Committee on Late-onset Pompe Disease
Muscle Nerve
2012 Mar;45(3):319-33.
Epub 2011 Dec 15
doi: 10.1002/mus.22329.
PMID: 22173792Free PMC Article