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pro vyhledávání: '"Tim Pyragius"'
Autor:
Tim Pyragius, Janina Pacyna, Kristian Brion, Sharon Chin, Maria Fuller, Samantha Stark, Melissa Gurner, Julia Dobbins, Janice M. Fletcher
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 89:A7.1-A7
IntroductionFabry disease is an X-linked disorder of glycosphingolipid metabolism arising from a deficiency of the enzyme, α-galactosidase A (AGA). In the absence of a family history, biochemical diagnosis is conferred by reduced activity in dried f
Autor:
Janice M. Fletcher, Samantha Stark, Sharon Chin, Tim Pyragius, Janina Pacyna, Kristian Brion, Melissa Gurner, Julia Dobbins
Publikováno v:
Journal of Neurology, Neurosurgery & Psychiatry. 89:A44.2-A44
IntroductionPompe disease is classified by age of onset and presentation. Late-onset Pompe disease (LOPD) generally presents with progressive limb-girdle and respiratory muscle weakness. Diagnosis is confirmed following dried blood spot (DBS) enzyme
Publikováno v:
Journal of cellular biochemistry. 99(6)
Chemotherapy-induced bone growth arrest and osteoporosis are significant problems in paediatric cancer patients, and yet how chemotherapy affects bone growth remains unclear. This study characterised development and resolution of damage caused by acu