Results 41 to 50 of about 988,052 (165)

Secondary myoadenylate deaminase deficiency is not a common feature of inflammatory myopathies: A descriptive study

Frontiers in Medicine, 2022
BackgroundMyoadenylate deaminase (MAD) deficiency is a form of metabolic myopathy, which generally causes only mild symptoms in the primary inherited form.
Michael Wilkinson, Michael Wilkinson, Michael Wilkinson, Kathy Cash, Bernice Gutschmidt, Sophia Otto, Sophia Otto, Vidya Limaye, Vidya Limaye   +8 more
doaj   +1 more source

Metabolic myopathies

, 2023
Metaboličke miopatije su raznovrsna skupina heterogenih genetskih poremećaja do kojih dolazi najčešće zbog nedostatne proizvodnje energije u stanicama uslijed manjka enzima u različitim metaboličkim putevima, ali i zbog drugih nasljednih metaboličkih ...
Bukovac, Antonia
core   +2 more sources

Score breakdown for training sets of congenital myopathies, muscular dystrophies and metabolic myopathies disease groups.

, 2014
Gene score is the sum of GO, HPO, MPO and IA scores. Relative contributions of GO, HPO, MPO and IA scores to the gene score are shown in the columns %GO, %HPO, %MPO and %IA, respectively.
Olivier Pourquié (271227), Valérie Biancalana (425551), Edmar Zanoteli (251569), Jocelyn Laporte (127789), Osorio Abath Neto (651166), Olivier Tassy (651167)   +5 more
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Induced Rhabdomyolysis Associated With Decompensated Cirrhosis

Journal of Investigative Medicine High Impact Case Reports, 2022
Rhabdomyolysis (RBD) occurs secondary to tissue injury, resulting in (muscle) cell lysis and release of intracellular electrolytes and proteins into circulation.
William Dungan MD, Gabrielle Young BS, Bradley Collins DO, John Romano MD, Nicholas Honko MD, Don Rockey MD   +5 more
doaj   +1 more source

Metabolic myopathies: functional evaluation by analysis of oxygen uptake kinetics

, 2009
The aim was to identify additional noninvasive tools allowing to detect and to quantify the metabolic impairment in patients with mitochondrial myopathies (MM) or McArdle's disease (McA)
Vago, Paola, Marzorati, Mauro
core   +1 more source

A national registry for juvenile dermatomyositis and other paediatric idiopathic inflammatory myopathies: 10 years' experience; the Juvenile Dermatomyositis National (UK and Ireland) Cohort Biomarker Study and Repository for Idiopathic Inflammatory Myopathies [PDF]

, 2010
Objectives: The paediatric idiopathic inflammatory myopathies (IIMs) are a group of rare chronic inflammatory disorders of childhood, affecting muscle, skin and other organs.
Juvenile Dermatomyositis Research Group, Martin, N, Lucy R. Wedderburn, Sally Smith, Davidson, J.E., Wedderburn, L.R., Smith, S., Neil Martin, Pilkington, C.A., Gardner-Medwin, J. [JD Research Group], Joyce E. Davidson, Krol, P., Petra Krol, Murray, K., Kevin Murray, Clarissa A. Pilkington   +15 more
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METABOLIC VS INFLAMMATORY MYOPATHY: DIAGNOSTIC DIFFICULTIES AND ERRORS IN MYOPATHIES – CASE REPORT [PDF]

Romanian Journal of Rheumatology, 2019
Glycogen storage diseases are genetic metabolic disorders of glycogen metabolism. There are more than 12 types and they are grouped based on the enzyme deficiency and the affected tissue.
Andra-Patricia Stanciu, Sinziana Daia-Iliescu, Mircea Diculescu, Ruxandra Ionescu   +3 more
doaj   +1 more source

Value of serum muscle enzymes in the differential diagnosis of myopathies

Chinese Journal of Contemporary Neurology and Neurosurgery, 2019
Objective To explore the expression differences of serum muscle enzymes among different types of myopathies and viral hepatitis. Methods This study enrolled 578 patients with myopathies and 51 patients with viral hepatitis from January to September 2018.
Yuan-yuan MA, Meng YU, Xiao-fang LI, Zhi-ying XIE, Xue-ying LI, Zhe ZHANG, Yun YUAN, Zhao-xia WANG   +7 more
doaj  

Toxic Myopathies

, 2014
Toxic myopathies are myopathies induced by drugs or toxins. This chapter discusses the clinical features and morphological, electrophysiological, and metabolic evidence of these myopathies.
Kuncl, Ralph W., Romano, G.
core   +1 more source

Targeting ER stress/ER stress response in myopathies

Redox Biology, 2019
There is more skeletal muscle tissue in the body than any other tissue and, as it is the organ of the majority of metabolic activity, muscle defect can affect the health of the entire body.
Ester Zito
doaj   +1 more source