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Genetic Landscape Of Congenital Myasthenic Syndromes From Turkey: Novel Mutations And Clinical Insights
(Sage Publications Inc, 2017)
Congenital myasthenic syndromes are clinically and genetically heterogeneous disorders of neuromuscular transmission. Most are treatable, but certain subtypes worsen with cholinesterase inhibitors. This underlines the ...
Cranial Metastatic Alveolar Rhabdomyosarcoma Mimicking Hematological Malignancy In An Adolescent Boy
(Springer, 2014)
Widespread alveolar rhabdomyosarcoma (ARMS) with bone marrow involvement and with an unknown primary tumor, especially presenting with acute tumor lysis syndrome can be easily misdiagnosed as a hematological malignancy. ...
Management Strategies for Cln2 Disease
(Elsevier Science Inc, 2017)
CLN2 disease (neuronal ceroid lipofuscinosis type 2) is a rare, autosomal recessive, pediatric-onset, rapidly progressive neurodegenerative lysosomal storage disorder caused by tripeptidyl peptidase 1 (TPP1) enzyme deficiency, ...