参考文献:

参考文献:

[1]AEPPLI T R,RYMEN D,ALLEGRI G,et al.Glycogen storage disease type VI:clinical course and molecular background[J]. Eur J Pediatr,2020,179(3):405-413.

[2]KIDO J,NAKAMURA K,MATSUMOTO S,et al.Current status of hepatic glycogen storage disease in Japan:clinical manifestations,treatments and long—term outcomes[J].Hum Genet,2013,58(5):285-292.

[3]KISHNANI P S,GOLDSTEIN J,AUSTIN S L,et al. ACMG Work Group on Diagnosis and Management of Glycogen Storage Diseases Type VI and IX. Diagnosis and management of glycogen storage diseases type VI and IX:a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).Genet Med,2019,21(4):772-789.

[4]CHANG S,ROSENBERG M J,Morton H,et al.Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI[J].Hum Mol Genet,1998,7(5):865-870.

[5]EMMA. Glycogen Storage Disease Type VI [M]. Seattle(WA):University of Washington, Seattle,1993.(https://www.daowen.com)

[6]LU S Q,FENG J Y,LIU J,et al.Glycogen storage disease type VI can progress to cirrhosis:ten Chinese patients with GSD VI and a literature review [J].Pediatr Endocrinol Metab,2020,33(10):1321-1333.

[7]TSILIANIDIS,L A ,FISKE L M ,SIEGEL S et al.Aggressive therapy improves cirrhosis in glycogen storage disease type IX[J].Mol Genet Metab,2013,109:179-182.

[8]ROSCHER A,PATEL J,HEWSON S,et al.The natural history of glycogen storage disease types VI and IX:long-term outcome from the largest metabolic center in Canada[J].Mol Genet Metab,2014,113:171-176.

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