Results 41 to 50 of about 2,988 (157)
Abstract Book: 25th Congress of the European Hematology Association Virtual Edition, 2020
, 2020 HemaSphere, Volume 4, Issue S1, Page 1-1168, June 2020.
wiley +1 more source
Chinese Journal of Contemporary Neurology and Neurosurgery, 2014 Objective To study the muscular pathological characteristics in riboflavin-responsive lipid storage myopathy before and after treatment. Methods A 10-year follow-up visit was made on a patient with riboflavin-responsive lipid storage myopathy, and ...
Ding-bang CHEN +8 more
doaj
Chinese Journal of Contemporary Neurology and Neurosurgery, 2014 Objective The clinical manifestation and electron transfer flavoprotein dehydrogenase (ETFDH) gene mutation of riboflavin-responsive lipid storage myopathy were analyzed for early diagnosis and treatment.mutation of riboflavin-responsive lipid storage
Ji-qing CAO +11 more
doaj
Research progress of electrophysiology for the diagnosis of metabolic myopathy
Chinese Journal of Contemporary Neurology and Neurosurgery, 2014 Metabolic myopathies comprise a group of diverse disorders characterized by defects ofn energy metabolism in skeletal muscle cells, including glycogen storage disease (GSD), lipid storage myopathy (LSM) and mitochondrial myopathy.
Lei ZHAO, Li⁃ying CUI
doaj
Therapeutic Approaches to the Lipidoses
, 1962 ALLEN C. CROCKER, SIDNEY FARBER
openaire +2 more sources
Evidence-based treatment of metabolic myopathy
Chinese Journal of Contemporary Neurology and Neurosurgery, 2014 Objective To evaluate the current treatments and possible adverse reactions of metabolic myopathy, and to develop the best solution for evidence-based treatment.
Yan LIN, Wen-wu ZHANG, Ling LIU
doaj
Juvenile Family Amaurotic Idiocy
, 1960 This rare disease, considered on of the lipidoses in modern nosology, is presented as a case report of a family in which four siblings were afflicted with the disease. Included in this paper are the clinical and morbid histological findings of one of the
Elliff, John Edgar
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Erythrocyte lipids in amaurotic idiocy
, 1965 As part of a programme for the investigation of lipidoses, erythrocyte-lipids were studied in affected and nonaffected members of families in which an anatomically verified case of late infantile amaurotic idiocy (L.I.A.I.) or juvenile amaurotic ...
Hooghwinkel, G.J.M. +2 more
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Cerebral Glycolipidoses: Clinical Characteristics of 41 Pediatric Patients
, 2004 A retrospective clinical and biochemical analysis of 41 pediatric patients with cerebral lipidoses seen between 1995 to 2003 was performed at a tertiary referral center for neurologic disorders in southern India.
Atchayaram Nalini, Rita Christopher
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