HuGE Literature Finder
Rare Disease
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| Impact of genotype on neutropenia in a large cohort of Serbian patients with glycogen storage disease type Ib. European journal of medical genetics 2019 Sep 103767. Sarajlija Adrijan, Djordjevic Maja, Kecman Bozica, Skakic Anita, Pavlovic Sonja, Pasic Srdjan, Stojiljkovic Ma |
| 3'-UTR SNP rs2229611 in G6PC1 affects mRNA stability, expression and Glycogen Storage Disease type-Ia risk. Clinica chimica acta; international journal of clinical chemistry 2017 Aug 471 46-54. Karthi Sellamuthu, Rajeshwari Mohan, Francis Amirtharaj, Saravanan Matheshwaran, Varalakshmi Perumal, Houlden Henry, Thangaraj Kumarasamy, Ashokkumar Balasubramani |
| Molecular analysis of glycogen storage disease type Ia in Iranian Azeri Turks: identification of a novel mutation. Journal of genetics 2017 Mar 96 (1): 19-23. Mahmoud Shekari Khaniani, Khorrami Aziz, Rafeey Mandana, Ghergherehchi Robabeh, Sima Mansoori Derakhsh |
| Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations. Journal of human genetics 2016 Mar . Lu Chaoxia, Qiu Zhengqing, Sun Miao, Wang Wei, Wei Min, Zhang X |
| Functional Analysis of Mouse G6pc1 Mutations Using a Novel In Situ Assay for Glucose-6-Phosphatase Activity and the Effect of Mutations in Conserved Human G6PC1/G6PC2 Amino Acids on G6PC2 Protein Expression. PloS one 2016 11 (9): e0162439. Boortz Kayla A, Syring Kristen E, Pound Lynley D, Wang Yingda, Oeser James K, O'Brien Richard |
| PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations. BMC medical genetics 2016 17 33. Choi Rihwa, Park Hyung-Doo, Kang Ben, Choi So Yoon, Ki Chang-Seok, Lee Soo-Youn, Kim Jong-Won, Song Junghan, Choe Yon |
| [Gene mutations and clinical manifestations in children with glycogen storage disease type Ib]. Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2013 Aug 15 (8): 661-5. Liang Cui-Li, Liu Li, Sheng Hui-Ying, Jiang Min-Yan, Yin Xi, Mei Hui-Fen, Cheng Jing, Zhang Wen, Fan Li-Pi |
| Mutational analysis of the GYS2 gene in patients diagnosed with ketotic hypoglycaemia. Journal of pediatric endocrinology & metabolism : JPEM 2012 25 (9-10): 963-7. Nessa Azizun, Kumaran Anitha, Kirk Richard, Dalton Ann, Ismail Dunia, Hussain Khal |
| Rapid detection of glycogen storage disease type Ia by DNA microarray. Clinical chemistry and laboratory medicine : CCLM / FESCC 2010 Sep 48 (9): 1229-34. Xu Shanshan, Qin Shengying, Gu Xuefan, Qiu Wenjuan, Ye Jun, Han Lianshu, He L |
| Molecular diagnosis of German patients with late-onset glycogen storage disease type II. Journal of inherited metabolic disease 2008 Dec 31 Suppl 2 S261-5. Joshi P R, Gläser D, Schmidt S, Vorgerd M, Winterholler M, Eger K, Zierz S, Deschauer |
| Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II. Journal of neurology 2008 Jun 255 (6): 831-8. Wan L, Lee C-C, Hsu C-M, Hwu W-L, Yang C-C, Tsai C-H, Tsai F |
| Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature. European journal of pediatrics 2005 Aug 164 (8): 501-8. Melis Daniela, Fulceri Rossella, Parenti Giancarlo, Marcolongo Paola, Gatti Rosanna, Parini Rossella, Riva Enrica, Della Casa Roberto, Zammarchi Enrico, Andria Generoso, Benedetti Ange |
| Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper. Clinica chimica acta; international journal of clinical chemistry 2004 Sep 347 (1-2): 97-102. Chamoles Néstor A, Niizawa Gabriela, Blanco Mariana, Gaggioli Daniela, Casentini Cari |
| Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population. American journal of medical genetics. Part A 2004 Aug 129A (2): 162-4. Ekstein Josef, Rubin Berish Y, Anderson Sylvia L, Weinstein David A, Bach Gideon, Abeliovich Dvorah, Webb Michael, Risch Ne |
| Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands. European journal of human genetics : EJHG 2001 May 9 (5): 388-91. Santer R, Kinner M, Steuerwald U, Kjaergaard S, Skovby F, Simonsen H, Shaiu W L, Chen Y T, Schneppenheim R, Schaub |
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