HYPOTONIA

作品数：3被引量：1H指数：1
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相关领域：医药卫生更多>>
相关机构：广州市妇女儿童医疗中心更多>>
相关期刊：《Open Journal of Pediatrics》《World Journal of Clinical Cases》《Journal of Acute Disease》更多>>
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Infantile Spinal Muscular Atrophy at the Albert Royer National Children’s Hospital Center in Dakar
《Open Journal of Pediatrics》2024年第3期514-521,共8页Guillaye Diagne Khadim Bop Sofiatou Dieye Arame Faye Fatou Ly Amadou Lamine Fall 
Introduction: Infantile spinal muscular atrophy (ISA) is an autosomal recessive disease caused by primary degeneration of cells in the anterior horn of the spinal cord, leading to muscle weakness and hypotonia. Its in...
关键词：Spinal Muscular Atrophy CHILD HYPOTONIA DAKAR 
PIGN mutation multiple congenital anomalies-hypotonia-seizures syndrome 1:A case report被引量：1
《World Journal of Clinical Cases》2022年第16期5441-5445,共5页Fei Hou Shan Shan Hua Jin 
BACKGROUND Multiple congenital anomalies-hypotonia-seizures syndrome 1(MCAHS1)associated with mutations in PIGN gene.CASE SUMMARY The authors report 1 case of a 16 years old girl who was presented with epilepsy,develo...
关键词：PIGN Multiple congenital anomalies-hypotonia-seizures Syndrome 1 MCAHS1 Whole-exome sequencing 
Acute Guillain-Barré syndrome: A case report in pediatrics
《Journal of Acute Disease》2017年第2期89-91,共3页Charishma Modupalli Chandrakala Sriramulu Divya Gopineni Prasanna Raju Yalavarthi Ranganayakulu Diviti 
Guillain-Barré syndrome is a complicated degenerative neurological disorder which can be either acute or chronic in nature. Guillain-Barré syndrome is an acquired condition and is characterized by progressive, symme...
关键词：Areflexia Hypotaxia HYPOTONIA IMMUNOGLOBULINS NEUROPATHY SENSORY loss TACHYPNEA 
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