Group 3 medulloblastoma in a patient with a GYS2 germline mutation and glycogen storage disease 0a
Author:
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),General Medicine,Pediatrics, Perinatology and Child Health
Link
http://link.springer.com/article/10.1007/s00381-017-3666-9/fulltext.html
Reference15 articles.
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2. Orho M, Bosshard NU, Buist NR, Gitzelmann R, Aynsley-Green A, Blümel P, Gannon MC, Nuttall FQ, Groop LC (1998) Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0. J Clin Invest 102(3):507–515. https://doi.org/10.1172/JCI2890
3. Shirazi N, Kalra BP, Bhat NK, Wasim S (2016) Embryonal hepatoblastoma with co-existent glycogen storage disease in a seven-month-old child. J Clin Diagn Res 10(2):ED09–ED10. https://doi.org/10.7860/JCDR/2016/15984.7239
4. Ito E, Sato Y, Kawauchi K, Munakata H, Kamata Y, Yodono H, Yokoyama M (1987) Type 1a glycogen storage disease with hepatoblastoma in siblings. Cancer 59(10):1776–1780. https://doi.org/10.1002/1097-0142(19870515)59:10<1776::AID-CNCR2820591016>3.0.CO;2-T
5. Roy A, Finegold MJ (2010) Hepatic neoplasia and metabolic diseases in children. Clin Liver Dis 14(4):731–746. https://doi.org/10.1016/j.cld.2010.07.002
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1. Novel GYS2 mutations in a Japanese patient with glycogen storage disease type 0a;Molecular Genetics and Metabolism Reports;2021-03
2. Medulloblastomas associated with an APC germline pathogenic variant share the good prognosis of CTNNB1-mutated medulloblastomas;Neuro-Oncology;2019-08-23
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