Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 28 (of 28 Records) |
| Query Trace: Glycogen Storage Disease Type 6[original query] |
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| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| [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 |
| 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 |
| 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 |
| 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 |
| A new variant in PHKA2 is associated with glycogen storage disease type IXa. Molecular genetics and metabolism reports 2017 1 10 52-55. Rodríguez-Jiménez Carmen, Santos-Simarro Fernando, Campos-Barros Ángel, Camarena Carmen, Lledín Dolores, Vallespín Elena, Del Pozo Ángela, Mena Rocío, Lapunzina Pablo, Rodríguez-Nóvoa Son |
| Low Prevalence Estimates of Late-Onset Glycogen Storage Disease Type II in French-Speaking Belgium are not Due to Missed Diagnoses. Journal of neuromuscular diseases 2018 9 5 (4): 471-480. Remiche Gauthier, Lukacs Zoltan, Kasper David C, Abramowicz Marc, Pandolfo Massi |
| PHKG2 mutation spectrum in glycogen storage disease type IXc: a case report and review of the literature. Journal of pediatric endocrinology & metabolism : JPEM 2018 1 31 (3): 331-338. Li Chunyun, Huang Lihua, Tian Lang, Chen Jia, Li Shentang, Yang Zuoche |
| 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 |
| A rare PHKA2 variant (p.G991A) identified in a patient with ketotic hypoglycemia. JIMD reports 2019 8 48 (1): 15-18. Ago Yasuhiko, Sugie Hideo, Fukuda Tokiko, Otsuka Hiroki, Sasai Hideo, Nakama Mina, Abdelkreem Elsayed, Fukao Toshiyu |
| Intron retention is among six unreported AGL mutations identified in Malaysian GSD III patients. Genes & genomics 2019 4 41 (8): 885-893. Abdullah Ili Syazwana, Teh Ser-Huy, Khaidizar Fiqri Dizar, Ngu Lock-Hock, Keng Wee-Teik, Yap Sufin, Mohamed Zulqarna |
| A Novel, Recurrent, 3.6-kb Deletion in the PYGL Gene Contributes to Glycogen Storage Disease Type VI. The Journal of molecular diagnostics : JMD 2020 9 22 (12): 1373-1382. Liu Bo, Wu Bingbing, Lu Yi, Zhang Ping, Xiao Feifan, Li Gang, Wang Huijun, Dong Xinran, Liu Renchao, Li Yuchuan, Xie Xinbao, Zhou Wenhao, Wang Jianshe, Lu Yul |
| GAA compound heterozygous mutations associated with autophagic impairment cause cerebral infarction in Pompe disease. Aging 2020 3 12 (5): 4268-4282. Jia Xiaodong, Shao Libin, Liu Chengcheng, Chen Tuanzhi, Peng Ling, Cao Yinguang, Zhang Chuanchen, Yang Xiafeng, Zhang Guifeng, Gao Jianlu, Fan Guangyi, Gu Mingliang, Du Hongli, Xia Zhangyo |
| The rs2229611 (G6PC:c.*23 T>C) is associated with glycogen storage disease type Ia in Brazilian patients. Molecular genetics and metabolism reports 2020 10 25 100659. Pinheiro Franciele Cabral, Sperb-Ludwig Fernanda, Fagundes Verch Juliana Maria, Dos Santos Bruna Bento, de Souza Carolina Fischinger Moura, Schwartz Ida Vanessa Doederle |
| Neurological Characteristics of Pediatric Glycogen Storage Disease. Frontiers in endocrinology 2021 6 12 685272. Muzetti Julio Henrique, do Valle Daniel Almeida, Santos Mara L S Ferreira, Telles Bruno Augusto, Cordeiro Mara |
| Glycogen Storage Disease Type Ia Screening Using Dried Blood Spots on Filter Paper: Application of COP-PCR for Detection of the c.648G>T G6PC Gene Mutation. The Kobe journal of medical sciences 2021 11 67 (2): E71-E78. Wijaya Yogik Onky Silvana, Niba Emma Tabe Eko, Yabushita Ryo, Bouike Yoshihiro, Nishio Hisahide, Awano Hiroyu |
| [Genetic analysis of a child with glycogen storage disease type IXa due to a novel variant in PHKA2 gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 Sep 39 (9): 988-991. Zhao Ganye, Si Wenzhe, Zhao Xuechao, Liu Li'na, Wang Conghui, Kong Xiangdo |
| High childhood serum triglyceride concentrations associate with hepatocellular adenoma development in patients with glycogen storage disease type Ia. JHEP reports : innovation in hepatology 2022 7 4 (8): 100512. Haring Martijn P D, Peeks Fabian, Oosterveer Maaike H, Brouwers Martijn C G J, Hollak Carla E M, Janssen Mirian C H, Langendonk Janneke G, Rennings Alexander J M, Wagenmakers Margreet A E M, Verkade Henkjan J, Derks Terry G J, de Meijer Vincent |
| Identification of a novel mutation in the ALDOB gene in hereditary fructose intolerance. Journal of pediatric endocrinology & metabolism : JPEM 2023 1 36 (3): 331-334. Beyzaei Zahra, Ezgu Fatih, Imanieh Mohammad Hadi, Haghighat Mahmoud, Dehghani Seyed Mohsen, Honar Naser, Geramizadeh Bi |
- Page last reviewed:Feb 1, 2023
- Page last updated:May 30, 2023
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