Page 149 - Liver Diseases in Children
P. 149

โรคตับเมแทบอลิก    139




              pthaigastro.org
             เอกสำรอ้ำงอิง

             1.  Chakrapani A, Gissen P. Metabolic liver disease in the infant and older child. In: Kelly DA, editor.
                Diseases of the liver and biliary system in children. 4  ed. West Sussex: John Wiley & Sons Ltd; 2017.
                                                            th
                p. 291-322.
             2.  McKiernan P. Metabolic liver disease. Clin Res Hepatol Gastroenterol 2012;36:287-90.
             3.  Scorza M, Elce A, Zarrilli F, Liguori R, Amato F, Castaldo G.  Genetic diseases that predispose to early
                liver cirrhosis. Int J Hepatol 2014;2014:713754.
             4.  Stenson PD, Mort M, Ball EV, Shaw K, Phillips A, Cooper DN.  The Human Gene Mutation Database:
                building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and
                personalized genomic medicine. Hum Genet 2014;133:1-9.
             5.  Hicks J, Wartchow E, Mierau G.  Glycogen storage diseases: a brief review and update on clinical
                features, genetic abnormalities, pathologic features, and treatment. Ultrastruct Pathol 2011;35:183-96.
             6.  Bhattacharya K.  Investigation and management of the hepatic glycogen storage diseases. Transl
                Pediatr 2015;4:240-8.
             7.  Burda P, Hochuli M.  Hepatic glycogen storage disorders: what have we learned in recent years? Curr
                Opin Clin Nutr Metab Care 2015;18:415-21.
             8.  Chou JY, Jun HS, Mansfield BC.  Type I glycogen storage diseases: disorders of the glucose-6-
                phosphatase/glucose-6-phosphate transporter complexes. J Inherit Metab Dis 2015;38:511-9.
             9.  Kishnani PS, Austin SL, Abdenur JE, Arn P, Bali DS, Boney A, et al.  Diagnosis and management of
                glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and
                Genomics. Genet Med 2014;16:e1.
             10.  Nagasaka H, Hirano K, Ohtake A, Miida T, Takatani T, Murayama K, et al.  Improvements of
                hypertriglyceridemia and hyperlacticemia in Japanese children with glycogen storage disease type Ia by
                medium-chain triglyceride milk. Eur J Pediatr 2007;166:1009-16.
             11.  Jun HS, Weinstein DA, Lee YM, Mansfield BC, Chou JY.  Molecular mechanisms of neutrophil
                dysfunction in glycogen storage disease type Ib. Blood 2014;123:2843-53.
             12.  Wang DQ, Carreras CT, Fiske LM, Austin S, Boree D, Kishnani PS, et al.  Characterization and
                pathogenesis of anemia in glycogen storage disease type Ia and Ib. Genet Med 2012;14:795-9.
             13.  Lawrence NT, Chengsupanimit T, Brown LM, Derks TG, Smit GP, Weinstein DA.  Inflammatory bowel
                disease in glycogen storage disease type Ia. J Pediatr Gastroenterol Nutr 2017;64:e52-e4.

             14.  Melis D, Pivonello R, Cozzolino M, Della Casa R, Balivo F, Del Puente A, et al.  Impaired bone
                metabolism in glycogen storage disease type 1 is associated with poor metabolic control in type 1a
                and with granulocyte colony-stimulating factor therapy in type 1b. Horm Res Paediatr 2014;81:55-62.
             15.  Wang J, Cui H, Lee NC, Hwu WL, Chien YH, Craigen WJ, et al.  Clinical application of massively
                parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous
                origin. Genet Med 2013;15:106-14.
   144   145   146   147   148   149   150   151   152   153   154