Open Access

A novel mutation in a newborn baby leading to glycogen storage disease type Ia

 and    | Dec 31, 2018

Cite

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(11): e1.KishnaniPSAustinSLAbdenurJEArnPBaliDSBoneyADiagnosis and management of glycogen storage disease type I: A practice guideline of the American College of Medical Genetics and GenomicsGenet Med20141611e110.1038/gim.2014.12825356975Search in Google Scholar

Dambska M, Labrador EB, Kuo CL, Weinstein DA. Prevention of complications in glycogen storage disease type Ia with optimization of metabolic control. Pediatr Diabetes. 2017; 18(5): 327-331.DambskaMLabradorEBKuoCLWeinsteinDAPrevention of complications in glycogen storage disease type Ia with optimization of metabolic controlPediatr Diabetes201718532733110.1111/pedi.1254028568353Search in Google Scholar

Sun A. Glucose-6-phosphatase deficiency (glycogen storage disease I, von Gierke disease). Hahn S, Editor. Waltham, MA, USA: UpToDate Inc. (https://www.upto date.com accessed February 16, 2018.SunAGlucose-6-phosphatase deficiency (glycogen storage disease I, von Gierke disease)HahnSWaltham, MA, USAUpToDate Inchttps://www.upto date.comaccessed February 162018Search in Google Scholar

Aydemir Y, Gurakan F, Saltik Temizel IN, Demir H, Karli Oguz K, et al. Evaluation of central nervous system in patients with glycogen storage disease type 1a. Turkish J Pediatr. 2016; 58(1): 12-18.AydemirYGurakanFSaltikTemizel INDemirHKarliOguz KEvaluation of central nervous system in patients with glycogen storage disease type 1aTurkish J Pediatr2016581121810.24953/turkjped.2016.01.00227922231Search in Google Scholar

Hufton BR, Wharton BA. Glycogen storage disease (type 1) presenting in the neonatal period. Arch Dis Child. 1982; 57(4): 309-319.HuftonBRWhartonBAGlycogen storage disease (type 1) presenting in the neonatal periodArch Dis Child198257430931910.1136/adc.57.4.30916276346952821Search in Google Scholar

Eminoğlu FT, Tümer L, Okur I, Ezgü FS, Hasanoğlu A. Clinical course and outcome of glycogen-storage disease type 1a and type 1b. Turk Arch Ped. 2013; 48(2): 117-122.EminoğluFTTümerLOkurIEzgüFSHasanoğluAClinical course and outcome of glycogen-storage disease type 1a and type 1bTurk Arch Ped201348211712210.4274/tpa.185Search in Google Scholar

Rake JP, Visser G, Labrune P, Leonard JV, Ullrich K, Smit GPK. Guidelines for management of glycogen storage disease type I – European Study on Glycogen Storage Disease Type I (ESGSD I). Eur J Pediatr. 2002; 161(Suppl 1): 112-119.RakeJPVisserGLabrunePLeonardJVUllrichKSmitGPKGuidelines for management of glycogen storage disease type I – European Study on Glycogen Storage Disease Type I (ESGSD I)Eur J Pediatr2002161Suppl 111211910.1007/BF02680007Search in Google Scholar

eISSN:
1311-0160
Language:
English
Publication timeframe:
2 times per year
Journal Subjects:
Medicine, Basic Medical Science, other