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Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics.

Kishnani PS, Austin SL, Abdenur JE, Arn P, Bali DS, Boney A, Chung WK, Dagli AI, Dale D, Koeberl D, Somers MJ, Wechsler SB, Weinstein DA, Wolfsdorf JI, Watson MS; American College of Medical Genetics and Genomics. Kishnani PS, et al. Genet Med. 2014 Nov;16(11):e1. doi: 10.1038/gim.2014.128. Genet Med. 2014. PMID: 25356975 Free article.

Diagnosis and management of Pompe disease.

Bhengu L, Davidson A, du Toit P, Els C, Gerntholtz T, Govendrageloo K, Henderson B, Mubaiwa L, Varughese S; Lysosomal Storage Disease Medical Advisory Board, South Africa. Bhengu L, et al. S Afr Med J. 2014 Apr;104(4):273-4. doi: 10.7196/samj.7386. S Afr Med J. 2014. PMID: 25118547 Review.

A rare co-occurrence of phosphorylase kinase deficiency (GSD type IXd) and alpha-glycosidase deficiency (GSD Type II) in a 53-year-old man presenting with an atypical glycogen storage disease phenotype.

Picillo E, Onore ME, Passamano L, Nigro V, Politano L. Picillo E, et al. Acta Myol. 2024 Feb 21;43(1):21-26. doi: 10.36185/2532-1900-411. eCollection 2024. Acta Myol. 2024. PMID: 38586167 Free PMC article. Review.

Using an In Vivo Mouse Model to Determine the Exclusion Criteria of Preexisting Anti-AAV9 Neutralizing Antibody Titer of Pompe Disease Patients in Clinical Trials.

Wang H, Zhang C, Dong Z, Zhu X, Zheng X, Liu Z, Zhou J, Yu S, Wu X, Dong X. Wang H, et al. Viruses. 2024 Mar 5;16(3):400. doi: 10.3390/v16030400. Viruses. 2024. PMID: 38543765 Free PMC article.

Infantile-onset pompe disease: a case report emphasizing the role of genetic counseling and prenatal testing.

Alizadeh Y, Saidi H, Saeedi V, Kamalzadeh L. Alizadeh Y, et al. BMC Pediatr. 2024 Mar 18;24(1):194. doi: 10.1186/s12887-024-04690-6. BMC Pediatr. 2024. PMID: 38500078 Free PMC article.

DBS are suitable for 1,5-anhydroglucitol monitoring in GSD1b and G6PC3-deficient patients taking SGLT2 inhibitors to treat neutropenia.

Dewulf JP, Chevalier N, Marie S, Veiga-da-Cunha M. Dewulf JP, et al. Mol Genet Metab. 2023 Nov;140(3):107712. doi: 10.1016/j.ymgme.2023.107712. Epub 2023 Oct 24. Mol Genet Metab. 2023. PMID: 38353183 Free article.

Treatment of infantile-onset Pompe disease in a rat model with muscle-directed AAV gene therapy.

Muñoz S, Bertolin J, Jimenez V, Jaén ML, Garcia M, Pujol A, Vilà L, Sacristan V, Barbon E, Ronzitti G, El Andari J, Tulalamba W, Pham QH, Ruberte J, VandenDriessche T, Chuah MK, Grimm D, Mingozzi F, Bosch F. Muñoz S, et al. Mol Metab. 2024 Mar;81:101899. doi: 10.1016/j.molmet.2024.101899. Epub 2024 Feb 10. Mol Metab. 2024. PMID: 38346589 Free PMC article.

Defect in degradation of glycogenin-exposed residual glycogen in lysosomes is the fundamental pathomechanism of Pompe disease.

Zhang N, Liu F, Zhao Y, Sun X, Wen B, Lu JQ, Yan C, Li D. Zhang N, et al. J Pathol. 2024 May;263(1):8-21. doi: 10.1002/path.6255. Epub 2024 Feb 9. J Pathol. 2024. PMID: 38332735

Lentiviral gene therapy with IGF2-tagged GAA normalizes the skeletal muscle proteome in murine Pompe disease.

Liang Q, Vlaar EC, Pijnenburg JM, Rijkers E, Demmers JAA, Vulto AG, van der Ploeg AT, van Til NP, Pijnappel WWMP. Liang Q, et al. J Proteomics. 2024 Jan 16;291:105037. doi: 10.1016/j.jprot.2023.105037. Epub 2023 Oct 30. J Proteomics. 2024. PMID: 38288553 Free article.

Treatment recommendations for glycogen storage disease type IB- associated neutropenia and neutrophil dysfunction with empagliflozin: Consensus from an international workshop.

Grünert SC, Derks TGJ, Mundy H, Dalton RN, Donadieu J, Hofbauer P, Jones N, Uçar SK, LaFreniere J, Contreras EL, Pendyal S, Rossi A, Schneider B, Spiegel R, Stepien KM, Wesol-Kucharska D, Veiga-da-Cunha M, Wortmann SB. Grünert SC, et al. Mol Genet Metab. 2024 Mar;141(3):108144. doi: 10.1016/j.ymgme.2024.108144. Epub 2024 Jan 17. Mol Genet Metab. 2024. PMID: 38277989 Free article. Review.

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