Results 31 to 40 of about 3,138 (148)
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
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 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
Manifestações oculares dos disturbios do metabolismo: dislipidoses
, 2012 Lipídeos - gorduras Metabolismo dos lipoides Fosfatídeos Cerobrosídeos Colesterol Xantoma cutâneo - xantelasma Esteatose primitiva da córnea Arco senil - arco pressenil - arco juvenil Influência de fatores endocrínicos [endócrinos] sobre o metabolismo ...
Meyer, Corrêa
core +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
Erythrocyte lipids in amaurotic idiocy [PDF]
, 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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The impact of consanguinity on the Indian population [PDF]
, 2002 Numerous studies have been conducted by Indian anthropologists into the prevalence of both consanguineous and affinal marriage.1-3 and the topic of consanguinity continues to attract great attention among geneticists and social scientists.
Bittles, A.H.
core
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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