"glycogen storage disease type iv"[mh] - Search Results

Year	Number of Results
1947	1
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2016	8
2017	3
2018	1
2019	4
2020	6
2021	2
2022	1
2023	4
2024	2

1

Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.

Koch RL, Soler-Alfonso C, Kiely BT, Asai A, Smith AL, Bali DS, Kang PB, Landstrom AP, Akman HO, Burrow TA, Orthmann-Murphy JL, Goldman DS, Pendyal S, El-Gharbawy AH, Austin SL, Case LE, Schiffmann R, Hirano M, Kishnani PS. Koch RL, et al. Mol Genet Metab. 2023 Mar;138(3):107525. doi: 10.1016/j.ymgme.2023.107525. Epub 2023 Jan 25. Mol Genet Metab. 2023. PMID: 36796138 Review.

2

Glycogen Storage Disease Type IV Diagnosed at Fetal Autopsy.

Butler DC, Glen WB Jr, Schandl C, Phillips A. Butler DC, et al. Pediatr Dev Pathol. 2020 Aug;23(4):301-305. doi: 10.1177/1093526619890224. Epub 2019 Nov 20. Pediatr Dev Pathol. 2020. PMID: 31747834

3

Glycogen storage disease type IV without detectable polyglucosan bodies: importance of broad gene panels.

Oliwa A, Langlands G, Sarkozy A, Munot P, Stewart W, Phadke R, Topf A, Straub V, Duncan R, Wigley R, Petty R, Longman C, Farrugia ME. Oliwa A, et al. Neuromuscul Disord. 2023 Sep;33(9):98-105. doi: 10.1016/j.nmd.2023.07.004. Epub 2023 Jul 23. Neuromuscul Disord. 2023. PMID: 37598009

4

The potential of dietary treatment in patients with glycogen storage disease type IV.

Derks TGJ, Peeks F, de Boer F, Fokkert-Wilts M, van der Doef HPJ, van den Heuvel MC, Szymańska E, Rokicki D, Ryan PT, Weinstein DA. Derks TGJ, et al. J Inherit Metab Dis. 2021 May;44(3):693-704. doi: 10.1002/jimd.12339. Epub 2020 Dec 21. J Inherit Metab Dis. 2021. PMID: 33332610 Free PMC article.

5

Systemic Correction of Murine Glycogen Storage Disease Type IV by an AAV-Mediated Gene Therapy.

Yi H, Zhang Q, Brooks ED, Yang C, Thurberg BL, Kishnani PS, Sun B. Yi H, et al. Hum Gene Ther. 2017 Mar;28(3):286-294. doi: 10.1089/hum.2016.099. Epub 2016 Nov 10. Hum Gene Ther. 2017. PMID: 27832700

6

The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies.

Moses SW, Parvari R. Moses SW, et al. Curr Mol Med. 2002 Mar;2(2):177-88. doi: 10.2174/1566524024605815. Curr Mol Med. 2002. PMID: 11949934 Review.

7

Glycogen storage disease type IV: dilated cardiomyopathy as the isolated initial presentation in an adult patient.

Ndugga-Kabuye MK, Maleszewski J, Chanprasert S, Smith KD. Ndugga-Kabuye MK, et al. BMJ Case Rep. 2019 Sep 16;12(9):e230068. doi: 10.1136/bcr-2019-230068. BMJ Case Rep. 2019. PMID: 31527204 Free PMC article.

8

Liver transplantation for glycogen storage disease types I, III, and IV.

Matern D, Starzl TE, Arnaout W, Barnard J, Bynon JS, Dhawan A, Emond J, Haagsma EB, Hug G, Lachaux A, Smit GP, Chen YT. Matern D, et al. Eur J Pediatr. 1999 Dec;158 Suppl 2(Suppl 2):S43-8. doi: 10.1007/pl00014320. Eur J Pediatr. 1999. PMID: 10603098 Free PMC article. Review.

9

Liver transplantation for type I and type IV glycogen storage disease.

Selby R, Starzl TE, Yunis E, Todo S, Tzakis AG, Brown BI, Kendall RS. Selby R, et al. Eur J Pediatr. 1993;152 Suppl 1(Suppl 1):S71-6. doi: 10.1007/BF02072093. Eur J Pediatr. 1993. PMID: 8319729 Free PMC article.

10

Fatal infantile neuromuscular presentation of glycogen storage disease type IV.

Tay SK, Akman HO, Chung WK, Pike MG, Muntoni F, Hays AP, Shanske S, Valberg SJ, Mickelson JR, Tanji K, DiMauro S. Tay SK, et al. Neuromuscul Disord. 2004 Apr;14(4):253-60. doi: 10.1016/j.nmd.2003.12.006. Neuromuscul Disord. 2004. PMID: 15019703

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