Results 121 to 130 of about 27,460 (260)

Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies [PDF]

open access: yes, 2017
Dominant mutations in the skeletal muscle ryanodine receptor (RYR1) gene are well-recognized causes of both malignant hyperthermia susceptibility (MHS) and central core disease (CCD).
Appleton, Richard   +21 more
core  

Wernicke Encephalopathy after Gastrointestinal Surgery

open access: yesÇukurova Üniversitesi Tıp Fakültesi Dergisi, 2015
We herein describe a child operated for acute abdomen who developed Wernickes encephalopathy (WE) secondary to prolonged total parenteral nutrition (TPN) that lacked vitamin B1 supplementation.
Semra Saygi   +3 more
doaj  

Clinical characteristics and etiological analysis of the peripheral third nerve palsy

open access: yesChinese Journal of Contemporary Neurology and Neurosurgery, 2020
Objective To summarize and analyze the etiology and clinical features of the third nervepalsy(TNP). Methods and Results The clinical data of patients with TNP diagnosed from January to October 2019 were retrospectively analyzed.
Li⁃ping ZHU, Jia⁃wei WANG
doaj  

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