History of glycogen storage disease type Ⅱ
Glycogen storage disease type Ⅱ (GSD Ⅱ), which is also called Pompe disease, is an autosomal recessive hereditary metabolic disease resulting from mutations of acid α-glucosidase (GAA). GSD Ⅱ is characterized by involvements of skeletal muscle and cardiac muscle. It has been 85 years since the disco...
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| Format: | Article |
| Language: | English |
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Tianjin Huanhu Hospital
2018-08-01
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| Series: | Chinese Journal of Contemporary Neurology and Neurosurgery |
| Subjects: | |
| Online Access: | http://www.cjcnn.org/index.php/cjcnn/article/view/1818 |
| _version_ | 1819261957816975360 |
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| author | Cheng ZHANG Liang WANG |
| author_facet | Cheng ZHANG Liang WANG |
| author_sort | Cheng ZHANG |
| collection | DOAJ |
| description | Glycogen storage disease type Ⅱ (GSD Ⅱ), which is also called Pompe disease, is an autosomal recessive hereditary metabolic disease resulting from mutations of acid α-glucosidase (GAA). GSD Ⅱ is characterized by involvements of skeletal muscle and cardiac muscle. It has been 85 years since the discovery of GSDⅡ, and specific enzyme replacement therapy has been applied in clinic. In this review, we aim to review the milestones of GSDⅡ in clinical discovery, laboratory research, genetic diagnosis and enzyme replacement therapy and learn the development of disease research, which is helpful in inspiring and guiding clinicians to do researches. |
| first_indexed | 2024-12-23T19:50:03Z |
| format | Article |
| id | doaj.art-1981e61f4b1d449194eeecc0c7b2ae91 |
| institution | Directory Open Access Journal |
| issn | 1672-6731 |
| language | English |
| last_indexed | 2024-12-23T19:50:03Z |
| publishDate | 2018-08-01 |
| publisher | Tianjin Huanhu Hospital |
| record_format | Article |
| series | Chinese Journal of Contemporary Neurology and Neurosurgery |
| spelling | doaj.art-1981e61f4b1d449194eeecc0c7b2ae912022-12-21T17:33:24ZengTianjin Huanhu HospitalChinese Journal of Contemporary Neurology and Neurosurgery1672-67312018-08-0118856357210.3969/j.issn.1672-6731.2018.08.0021773History of glycogen storage disease type ⅡCheng ZHANG0Liang WANG1Department of Neurology, the First Affiliated Hospital, Sun Yat - sen University, Guangzhou 510080, Guangdong, ChinaDepartment of Neurology, the First Affiliated Hospital, Sun Yat - sen University, Guangzhou 510080, Guangdong, ChinaGlycogen storage disease type Ⅱ (GSD Ⅱ), which is also called Pompe disease, is an autosomal recessive hereditary metabolic disease resulting from mutations of acid α-glucosidase (GAA). GSD Ⅱ is characterized by involvements of skeletal muscle and cardiac muscle. It has been 85 years since the discovery of GSDⅡ, and specific enzyme replacement therapy has been applied in clinic. In this review, we aim to review the milestones of GSDⅡ in clinical discovery, laboratory research, genetic diagnosis and enzyme replacement therapy and learn the development of disease research, which is helpful in inspiring and guiding clinicians to do researches.http://www.cjcnn.org/index.php/cjcnn/article/view/1818Glycogen storage disease type ⅡHistory of medicineReview |
| spellingShingle | Cheng ZHANG Liang WANG History of glycogen storage disease type Ⅱ Chinese Journal of Contemporary Neurology and Neurosurgery Glycogen storage disease type Ⅱ History of medicine Review |
| title | History of glycogen storage disease type Ⅱ |
| title_full | History of glycogen storage disease type Ⅱ |
| title_fullStr | History of glycogen storage disease type Ⅱ |
| title_full_unstemmed | History of glycogen storage disease type Ⅱ |
| title_short | History of glycogen storage disease type Ⅱ |
| title_sort | history of glycogen storage disease type ii |
| topic | Glycogen storage disease type Ⅱ History of medicine Review |
| url | http://www.cjcnn.org/index.php/cjcnn/article/view/1818 |
| work_keys_str_mv | AT chengzhang historyofglycogenstoragediseasetypeii AT liangwang historyofglycogenstoragediseasetypeii |