Chou JY, Matern D, Mansfield BC, Chen YT (2002) Type I glycogen storage disease: disorders of the glucose-6-phospha tase complex. Curr Mol Med 2:121–143
Annabi B, Hiraiwa H, Mansfield BC, Lei KJ, Ubagai T, Polymeropoulos MH, Moses SW, Parvari R, Hershkovitz E, Mandel H, Fryman M, Chou JY (1998) The gene for glycogen storage disease type 1b maps to chromosome 11q23. Am J Hum Genet 62:400–405
PubMed PubMed Central Google Scholar
Matern D, Seydewitz HH, Bali D, Lang C, Chen YT (2002) Glycogen storage disease type I: diagnosis and phenotype/genotype correlation. Eur J Pediatr 161(Suppl 1):S10–S19
ClinVar (2025) https://www.ncbi.nlm.nih.gov/clinvar/ (updated in 31.05.2025)
Göğüş S, Koçak N, Ciliv G, Karabulut E, Akçören Z, Kale G, Cağlar M (2002) Histologic features of the liver in type Ia glycogen storage disease: comparative study between different age groups and consecutive biopsies. Pediatr Dev Pathol 5(3):299–304
Saltik IN, Ozen H, Ciliv G, Koçak N, Yüce A, Gürakan F, Dinler G (2000) Glycogen storage disease type Ia: frequency and clinical course in Turkish children. Indian J Pediatr 67(7):497–501
Ersoy M, Uyanik B, Gedikbasi A (2021Dec 15) Evaluation of glycogen storage patients: report of twelve novel variants and new clinical findings in a Turkish population. Genes (Basel) 12(12):1987
Çakar NE, Gezdirici A, Topuz HŞ, Önal H (2020) Novel variants in Turkish patients with glycogen storage disease. Pediatr Int 62(10):1145–1150
Neyzi O, Bundak R, Gökçay G, Günöz H, Furman A, Darendeliler F, Baş F (2015) Reference values for weight, height, head circumference, and body mass index in Turkish children. J Clin Res Pediatr Endocrinol 7(4):280–293
PubMed PubMed Central Google Scholar
Hasanoğlu A, Tümer L, Ezgü FS (2004) Vertebra and femur neck bone mineral density values in healthy Turkish children. Turk J Pediatr 46(4):298–302
Robinson JT, Thorvaldsdóttir H, Winckler W, Guttman M, Lander ES, Getz G, Mesirov JP (2011) Integrative genomics viewer. Nat Biotechnol 29(1):24–26. https://doi.org/10.1038/nbt.1754
Article PubMed PubMed Central Google Scholar
GERP (Genomic Evolutionary Rate Profiling) (2005) Cooper GM, Stone EA, Asimenos G; NISC Comparative Sequencing Program; Green ED, Batzoglou S, Sidow A. Distribution and intensity of constraint in mammalian genomic sequence. Genome Res 15(7):901–13. https://doi.org/10.1101/gr.3577405.
Quang D, Chen Y, Xie X (2015) DANN: a deep learning approach for annotating the pathogenicity of genetic variants. Bioinformatics 31(5):761–763. https://doi.org/10.1093/bioinformatics/btu703
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, ACMG Laboratory Quality Assurance Committee (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17(5):405–424. https://doi.org/10.1038/gim.2015.30
Article PubMed PubMed Central Google Scholar
Holmkvist J et al (2006) L. Common variants in HNF-1 alpha and risk of type 2 diabetes. Diabetologia 49(12):2882–91
Beysel S, Eyerci N, Pinarli FA, Kizilgul M, Ozcelik O, Caliskan M, Cakal E (2019) HNF1A gene p.I27L is associated with early-onset, maturity-onset diabetes of the young-like diabetes in Turkey. BMC Endocr Disord 19(1):51
Behl R, Malhotra N, Joshi V, Poojary S, Middha S, Gupta S, Olaonipekun AB, Okoye I, Wagh B, Biswas D, Aginah C, Saini B, Nwanya C, Ugwu S, Anthony MM, Fang XS, Foluso O, Ibrahim AT (2022) Meta-analysis of HNF1A-MODY3 variants among human population. J Diabetes Metab Disord 21(1):1037–1046
PubMed PubMed Central Google Scholar
Tunçbílek E, Koc I (1994) Consanguineous marriage in Turkey and its impact on fertility and mortality. Ann Hum Genet 58(4):321–329
Ezgu F, Hasanoglu A, Okur I, Biberoglu G, Tumer L, Eminoglu T, Dogan H (2008) Rapid screening of 10 common mutations in Turkish Gaucher patients using electronic DNA microarray. Blood Cells Mol Dis 40(2):246–247
Eminoglu TF, Ezgu FS, Hasanoglu A, Tumer L (2013) Rapid screening of 12 common mutations in Turkish GSD1a patients using electronic DNA microarray. Gene 518(2):346–350. https://doi.org/10.1016/j.gene.2012.12.104
Kasapkara CS, Tümer L, Okur I, Eminoğlu T, Ezgü FS, Hasanoğlu A (2012) Hypercalcemia in glycogen storage disease type I patients of Turkish origin. Turk J Pediatr 54(1):35–37
Peeks F, Steunenberg TAH, de Boer F et al (2017) Clinical and bio chemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic con trol. J Inherit Metab Dis 40:695–702
PubMed PubMed Central Google Scholar
Janecke AR, Mayatepek E, Utermann G (2001) Molecular genetics of type 1 glycogen storage disease. Mol Genet Metab 73:117–125
Lei KJ, Shelly LL, Pan CJ, Sidbury JB, Chou JY (1993) Mutations in the glucose- 6-phosphatase gene that cause glycogen storage disease type 1a. Science 262:580–583
Kishnani PS, Austin SL, Abdenur JE, Arn P, Bali DS, Boney A, Chung WK, Dagli AI, Dale D, Koeberl D, Somers MJ, Wechsler SB, Weinstein DA, Wolfsdorf JI, Watson MS, American College of Medical Genetics and Genomics (2014) Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics. Genet Med 16(11):e1
Lerer I, Sagi M, Cutting GR, Abeliovich D (1992) Cystic fibrosis mutations delta F508 and G542X in Jewish patients. J Med Genet 29(2):131–133
PubMed PubMed Central Google Scholar
Yao R, Goetzinger KR (2016) Genetic carrier screening in the twenty-first century. Clin Lab Med 36(2):277–88. , Abeliovich D, Lavon IP, Lerer I, Cohen T, Springer C, Avital A, Cutting GR (1992) Screening for five mutations detects 97% of cystic fibrosis (CF) chromosomes and predicts a carrier frequency of 1:29 in the Jewish Ashkenazi population. Am J Hum Genet 51(5):951–6
Dogru D et al (2020) Cystic fibrosis in Turkey: first data from the national registry. Pediatr Pulmonol 55(2):541–548. https://doi.org/10.1002/ppul.24561
Stirnemann J, Belmatoug N, Camou F, Serratrice C, Froissart R, Caillaud C, Levade T, Astudillo L, Serratrice J, Brassier A, Rose C, Billette de Villemeur T, Berger MG (2017) A review of Gaucher disease pathophysiology, clinical presentation and treatments. Int J Mol Sci 17;18(2):441
Peleg L, Karpati M, Gazit E, Raas-Rothschild A, Goldman B (1994) Mutations of the hexosaminidase A gene in Ashkenazi and non-Ashkenazi Jews. Biochem Med Metab Biol 52(1):22–26
Touitou I (2001Jul) The spectrum of familial mediterranean fever (FMF) mutations. Eur J Hum Genet 9(7):473–483
Ostrer H, Skorecki K (2013) The population genetics of the Jewish people. Hum Genet 132(2):119–127
Das R, Wexler P, Pirooznia M, Elhaik E (2017) The origins of Ashkenaz, Ashkenazic Jews, and Yiddish. Front Genet 8(Jun 21):87
PubMed PubMed Central Google Scholar
Beyzaei Z, Geramizadeh B (2019Jan) Molecular diagnosis of glycogen storage disease type I: a review. EXCLI J 30(18):30–46
Weston BW, Lin JL, Muenzer J, Cameron HS, Arnold RR, Seydewitz HH, Mayatepek E, Van Schaftingen E, Veiga-Da Cunha M, Matern D, Chen YT (2000) Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype. Pediatr Res 48:329–334
Kishnani PS, Austin SL, Abdenur JE, Arn P, Bali DS, Boney A, Chung WK, Dagli AI, Dale D, Koeberl D, Somers MJ, Wechsler SB, Weinstein DA, Wolfsdorf JI, Watson MS (2014) American College of Medical Genetics and Genomics. Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics. Genet Med 16(11):e1
Seol J, Jung S, Koh H, Jung J, Kang Y (2023) Echocardiographic assessment of patients with glycogen storage disease in a single center. Int J Environ Res Public Health 20(3):2191
PubMed PubMed Central Google Scholar
Xu S, Qin S, Gu X, Qiu W, Ye J, Han L, He L (2010) Rapid detection of glycogen storage disease type Ia by DNA microarray. Clin Chem Lab Med 48(9):1229–1234
Shieh JJ, Terzioglu M, Hiraiwa H, Marsh J, Pan CJ, Chen LY, Chou JY (2002Feb 15) The molecular basis of glycogen storage disease type 1a: structure and function analysis of mutations in glucose-6-phosphatase. J Biol Chem 277(7):5047–5053
Martens DH, Kuijpers TW, Maianski NA et al (2006) A patient with common glycogen storage disease type Ib mutations without neutropenia or neutrophil dysfunction. J Inherit Metab Dis 29:224–225
Angaroni CJ, Labrune P, Petit F et al (2006) Glycogen storage disease type Ib without neutropenia generated by a novel splice-site mutation in the glucose-6-phosphate translocase gene. Mol Genet Metab 88(1):96–99
Allegrini D, Autelitano A, Fogagnolo P, De Cillà S, Piozzi E, Mazza M, Paci S, Montanari C, Riva E, Rossetti L (2015) Lens opacities in glycogenoses type I and III. Can J Ophthalmol 50(6):480–484
Gerin I, Veiga-da-Cunha M, Achouri Y, Collet JF, Van Schaftingen E (1997Dec 15) Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib. FEBS Lett 419(2–3):235–238
Chen LY, Pan CJ, Shieh JJ, Chou JY (2002Dec 1) Structure-function analysis of the glucose-6-phosphate transporter deficient in glycogen storage disease type Ib. Hum Mol Genet 11(25):3199–3207
Smit GPA (1993) The long-term outcome of patients with glycogen storage disease type Ia. Eur J Pediatr 152:S52–S55
Weinstein DA, Wolfsdorf JI (2002) Effect of continuous glucose therapy with uncooked cornstarch on the long-term clinical course of type 1a glycogen storage disease. Eur J Ped
Comments (0)