The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type III.
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| Title: | The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type III. |
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| Authors: | Wang J; Department of Gastroenterology, Tianjin Children's Hospital, 300134, Tianjin, China.; Tianjin Children's Hospital (Children's Hospital of Tianjin University), 300134, Tianjin, China., Yu Y; Tianjin Children's Hospital (Children's Hospital of Tianjin University), 300134, Tianjin, China.; Graduate College of Tianjin Medical University, 300070, Tianjin, China., Cai C; Tianjin Children's Hospital (Children's Hospital of Tianjin University), 300134, Tianjin, China.; Tianjin Pediatric Research Institute, 300134, Tianjin, China.; Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, 300134, Tianjin, China., Zhi X; Tianjin Children's Hospital (Children's Hospital of Tianjin University), 300134, Tianjin, China.; Graduate College of Tianjin Medical University, 300070, Tianjin, China., Zhang Y; Tianjin Children's Hospital (Children's Hospital of Tianjin University), 300134, Tianjin, China.; Graduate College of Tianjin Medical University, 300070, Tianjin, China., Zhao Y; Department of Gastroenterology, Tianjin Children's Hospital, 300134, Tianjin, China.; Tianjin Children's Hospital (Children's Hospital of Tianjin University), 300134, Tianjin, China., Shu J; Tianjin Children's Hospital (Children's Hospital of Tianjin University), 300134, Tianjin, China. jianboshu1981@sina.com.; Tianjin Pediatric Research Institute, 300134, Tianjin, China. jianboshu1981@sina.com.; Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, 300134, Tianjin, China. jianboshu1981@sina.com.; Tianjin Pediatric Research Institute, Tianjin Children's Hospital, No. 238 Longyan Road, Beichen District, 300134, Tianjin, China. jianboshu1981@sina.com. |
| Source: | BMC pediatrics [BMC Pediatr] 2022 May 16; Vol. 22 (1), pp. 284. Date of Electronic Publication: 2022 May 16. |
| Publication Type: | Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 100967804 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2431 (Electronic) Linking ISSN: 14712431 NLM ISO Abbreviation: BMC Pediatr Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1471-2431 |
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| DOI: | 10.1186/s12887-022-03252-y |
