Results 1 to 10 of about 146 (80)
Chinese Journal of Contemporary Neurology and Neurosurgery, 2021 Objective To summarize the clinical, muscle pathology and molecular biological features of late⁃onset glycogen storage disease type Ⅱ (GSDⅡ). Methods and Results Five patients with late⁃onset GSD Ⅱ diagnosed and treated in The Fifth Affiliated Hospital ...
WU Shi⁃tao +4 more
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History of glycogen storage disease type Ⅱ
Chinese Journal of Contemporary Neurology and Neurosurgery, 2018 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).
Cheng ZHANG, Liang WANG
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Clinical features and genetic analysis of 7 patients with late-onset glycogen storage disease typeⅡ
Chinese Journal of Contemporary Neurology and Neurosurgery, 2014 Objective In order to make a well understanding on glycogen storage disease typeⅡ (GSDⅡ), this paper explored clinical features and genetic analysis of 7 patients with late-onset glycogen storage disease typeⅡ.
Juan YANG +10 more
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Clinical study of respiratory function in patients with late-onset glycogen storage disease typeⅡ
Chinese Journal of Contemporary Neurology and Neurosurgery, 2014 Background Late-onset glycogen storage disease typeⅡ(GSDⅡ, Pompe disease) is an autosomal recessive disease exhibiting progressive proximal skeletal muscle weakness and respiratory muscle involvement, caused by deficiency of the lysosomal enzyme acid ...
Wei-na JIN +8 more
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Countermeasures of six difficult-to-wean patients with severe glycogen storage disease type Ⅱ
Chinese Journal of Contemporary Neurology and Neurosurgery, 2019 Objective To explore the treatment of difficult-to-wean patients with glycogen storage disease type Ⅱ (GSDⅡ) complicated with respiratory failure.
Ling-ling XU +9 more
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Chinese Journal of Contemporary Neurology and Neurosurgery, 2014 Glycogen storage disease typeⅡ (GSDⅡ) is a rare progressive lysosomal storage disease caused by deficiency of acid α-glucosidase (GAA). The gene is located in 17q25.3. Diagnosis has been classically made by means of muscular biopsy.
Hong-zhi GUAN, Li-ying CUI
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Progress in genetic diagnosis and management of glycogen storage disease typeⅡ
Chinese Journal of Contemporary Neurology and Neurosurgery, 2014 Glycogen storage disease type Ⅱ (GSD Ⅱ) is a rare autosomal recessive hereditary metabolic disorder characterized by progressive atrophy and weakness of skeletal muscle. It can be confirmed by clinical history, acid α-glucosidase (GAA) testing and GAA
Cheng ZHANG, Juan YANG
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Research highlights of partial neuromuscular disorders
Chinese Journal of Contemporary Neurology and Neurosurgery, 2014 In order to understand the latest progression on neuromuscular disorders for clinicians, this review screened and systemized the papers on neuromuscular disorders which were collected by PubMed from January 2013 to February 2014.
Cheng ZHANG
doaj
Chinese Journal of Contemporary Neurology and Neurosurgery, 2014 Objective To evaluate the effect of Myozyme on one ventilator dependent patient with late-onset glycogen storage disease typeⅡ (GSDⅡ). Methods Myozyme infusion was administered based on manufacturer's recommendations at 20 mg/kg every 2 to 4 weeks ...
Juan YANG +10 more
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Case report: Familial glycogen storage disease type IV caused by novel compound heterozygous mutations in a glycogen branching enzyme 1 gene. [PDF]
Front Genet, 2022 Li Y +7 more
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