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Mcardles Disease: more detail

McArdle disease presenting as acute renal failure.(Disease/Disorder overview): An article from: Southern Medical Journal by Jayasree Pillarisetti, Awad Ahmed, 2007-03-01
The Migraine Brain: Your Breakthrough Guide to Fewer Headaches, Better Health by Carolyn Bernstein, Elaine McArdle, 2010-04-30

lists with details

Case 130 --Neuropathology Case
Electron microscopy revealed focal collections of both enlarged mitochondria andglycogen. Serologic testing for connective tissue diseases was negative.
http://path.upmc.edu/cases/case130.html

Extractions: Published on line in January 1998 PATIENT HISTORY: A 48-year-old woman was referred for evaluation of myalgias. She had muscle problems dating to childhood. She tired easily and was unable to keep up with her peers in athletic events. Shortly after beginning to exercise, she experienced weakness and a burning sensation in her muscles. She could not complete assigned running tasks in the allotted time and frequently became nauseated and sometimes vomited after running. She was labeled as a "slacker" because of this behavior. No cola-colored urine was noted during these events. Symptoms improved with rest; however, she also developed myalgias at rest as an adult. Over the past few years, she developed fixed proximal weakness manifest as difficulty combing her hair and climbing stairs, and she had difficulty peddling a bicycle. The myalgias and fatigue interfered with her ability to work in a packaging plant. She also had difficulty sleeping that improved with amitriptyline administration. Previous neurologic evaluations disclosed elevated creatine kinase (CK) levels (two to three times normal) on several occasions. An electromyogram (EMG) of limb muscles was normal. A deltoid muscle biopsy specimen, which was evaluated at a referral center, was interpreted as showing type II muscle fiber atrophy and non-specific changes suggestive of myopathy including subsarcolemmal red staining with Gomori trichrome. Electron microscopy revealed focal collections of both enlarged mitochondria and glycogen. Serologic testing for connective tissue diseases was negative. The thyroid stimulating hormone was minimally elevated.
AGSD - UK Site - Type V
(c) Dr Ros Quinlivan FRCPCH FRCP. April 200 Neuromuscular Physician, McArdlesDisease Clinic, Robert Jones and Agnes Hunt Hospital, Oswestery, UK.
http://www.agsd.org.uk/home/type5.asp

Extractions: McArdle's disease (Glycogen Storage Disease Type V or GSD V) is a rare metabolic myopathy involving the glycolytic pathway. Affected patients are unable to produce myophosphorylase, the enzyme involved in the phosphorolytic cleavage of glycogen to glucose-1-6- phosphate and glucose during anaerobic exercise. The consequence is exercise-induced myalgia and fatigue. The disorder affects all skeletal muscle, a frequently ignored fact by health workers, which results in significant disability. McArdle's disease is a rare metabolic muscle disorder, first described in 1951. The disorder is also known as Glycogen Storage Disease Type V or Phosphorylase Deficiency. Individuals born with McArdle's disease are unable to produce an enzyme known as myophosphorylase, which is important for creating a fuel source for exercise.
Ingenta: Article Summary -- Molecular Analysis Of Myophosphorylase Deficiency In
Molecular Analysis of Myophosphorylase Deficiency in Dutch Patients with McArdle sDisease Annals of Human Genetics January 2003, vol. 68, no. 1, pp.
http://www.ingenta.com/isis/searching/ExpandTOC/ingenta?issue=pubinfobike://bsc/
Traduci
http://www.unict.it/medint/nutrizione.htm

Extractions: BIBLIOTECA VIRTUALE ON-LINE MALATTIE NUTRIZIONALI E DISMETABOLICHE web editor: Guglielmo M.Trovato Istituto di Medicina Interna e Terapia Medica - Università di Catania - In questa sezione di biblioteca virtuale sono censiti siti con caratteristiche assai diverse: testi, collezioni di immagini, video didattici etc. Per una traduzione on-line si può attivare il traduttore di ALTAVISTA , su cui bisogna riportare, dopo averlo selezionato, il testo che interessa (seleziona col mouse, copia, incolla sul traduttore elettronico, traduci) FDA Center for - (US)
MediProsBy? ? ? ?
The summary for this Korean page contains characters that cannot be correctly displayed in this language/character set.
http://mediprosby.com/Mom/Index.asp?Action=View&Gubun=ency&Idx=618
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Australia's largest healthcare service, Central Sydney Area Health Service (CSAHS) provides an intricate network of specialty Statewide tertiary referral
http://www.cs.nsw.gov.au/csls/handbook/
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