Zobrazeno 1 - 7
of 7
pro vyhledávání: '"K R, Poulton"'
Publikováno v:
Functional neurology. 12(1)
Defects of muscle glycogen metabolism are well documented causes of metabolic myopathy, presenting with a spectrum of symptoms which show some relationship to the position of defective enzyme within the glycolytic pathway. We present three women with
Publikováno v:
Functional neurology. 9(1)
Muscle phosphoglycerate mutase deficiency results in a myopathic condition characterised by repeated cramps, possible myoglobinuria and muscle pain. We present a family with muscle phosphoglycerate mutase (PGaM) deficiency, mild glycogen storage and
Publikováno v:
The Quarterly journal of medicine. 86(11)
A family exhibited maternal inheritance of a variable syndrome comprising ocular, neck and proximal upper limb weakness, psychiatric features, and sudden death. Of 15 definitely or probably affected individuals, 7 had died in early adult life, probab
Publikováno v:
QJM: An International Journal of Medicine.
A family exhibited maternal inheritance of a variable syndrome comprising ocular, neck and proximal upper limb weakness, psychiatric features, and sudden death. Of 15 definitely or probably affected individuals, 7 had died in early adult life, probab
Autor:
K R, Poulton, M L, Rossi
Publikováno v:
Functional neurology. 8(1)
Conversion of glucose to fructose via sorbitol depends upon the enzymes aldose reductase and sorbitol dehydrogenase and is called the polyol pathway. It is particularly active in muscle from patients with X-linked muscular dystrophies (15). This inve
Autor:
K R, Poulton
Publikováno v:
Nursing times. 75(40)
Autor:
S Nightingale, K R Poulton
A 34 year old man presented with an 8 year history of mild muscle pain and stiffness on exertion especially in the cold. Clinical examination was normal. Apart from a mild persistent leucocytosis, his routine investigations were normal including crea
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3248457fd300b570e2eb4bc52c4457ca
https://europepmc.org/articles/PMC1031538/
https://europepmc.org/articles/PMC1031538/