Results 1 to 10 of about 2,942 (146)

Corneal dystrophies

Orphanet Journal of Rare Diseases, 2009
The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea. The designation is imprecise but remains in vogue because of its clinical value. Clinically,
Klintworth Gordon K
doaj   +1 more source

Estudos sobre o xanthoma: biochimica e pathogenia Studies in xanthoma: biochemistry and pathogenesis

Memorias do Instituto Oswaldo Cruz, 1935
1. No presente trabalho são descriptos dois casos de xanthelasmatose (xanthoma) com perturbações accentuadas do metabolismo dos lipides e esteroes. 2. Um dos casos apresentou notavel cholesteroluria não mostrando o doente lesões renaes, ao passo que o ...
Gilberto G. Villela, Rabello Junior
doaj   +1 more source

History of study on metabolic myopathy

Chinese Journal of Contemporary Neurology and Neurosurgery, 2014
The developmental history of metabolic myopathy is reviewed both chronologically and from different classifications. Searching the specific biomarkers of different metabolic myopathies, and specific diagnostic and therapeutic measures targeting these ...
Jian YIN, Shi-fang HOU, Cui-di WANG, Hong GUO, Xian-hao XU   +4 more
doaj  

Comparison of muscle pathology in riboflavin-responsive lipid storage myopathy before and after treatment: one case report and review of literature

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, Chao WU, Li FENG, Gui-ling MO, Bing LIAO, Da-wei LIU, Jin-lang WU, Qiang WU, Xun-hua LI   +8 more
doaj  

Clinical characteristics and gene mutation analysis of riboflavin-responsive lipid storage myopathy: report of 3 cases in 2 families and review of literature

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, Cheng ZHANG, Ya-qin LI, Juan YANG, Ying-yin LIANG, Shan-wei FENG, Xu ZHANG, Jing LI, Hui-li ZHANG, Yu-ling ZHU, Jia GENG, Li-qing YANG   +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  

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  

Broken Balance: Emerging Cross-Talk Between Proteostasis and Lipostasis in Neurodegenerative Diseases. [PDF]

Cells
Tittelmeier J, Nussbaum-Krammer C.
europepmc   +1 more source

Opportunistic Screening for Bone Demineralization by Whole Body CT in a Red-Handed Howler Monkey (Alouatta belzebul) Under Human Care. [PDF]

J Med Primatol
Fernandes THT, Silva ICC, Antunes JMAP, Oliveira RAS, Silva JMD, Valle YBM, Silva WA, Costa FS.   +7 more
europepmc   +1 more source

Successful management of recurrent feline hepatic lipidosis with equine placenta extract supplementation: A case report. [PDF]

Open Vet J
Akiyoshi M, Hisasue M.
europepmc   +1 more source