Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Alison Cousins"'
Publikováno v:
Journal of Inherited Metabolic Disease. 29:226-229
Adult-onset glycogen storage disease type II (GSD II) (McKusick 232300) is a progressive disabling myopathy. At present there is no treatment of proven clinical efficacy. Enzyme replacement therapy may in the future provide benefit but it will be cos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96e7aa02fa5f152f5e204db84e14c4df
https://doi.org/10.1007/s10545-006-0238-7
https://doi.org/10.1007/s10545-006-0238-7
Autor:
Kate Riddick, Clare Taylor, Yasmina Amraoui, Uma Ramaswami, Frances M. Platt, Xuntian Jiang, Daniel S. Ory, David Smith, Robin H. Lachmann, Daniel J. Sillence, Heiko Runz, Rohini Sidhu, Florian Rimmele, Caroline A. Hastings, Naomi Wright, Begona Arias, Anneliese O. Speak, Alison Cousins, Kerri L. Wallom, Michael Beck, Mylvaganam Jeyakumar, Louise Simmons, R. Hartung, Eugen Mengel, Christopher A. Wassif, Timothy M. Cox, Nicole M. Yanjanin, Danielle te Vruchte, Jackie Imrie, Christian J. Hendriksz, Nada Al Eisa, James E. Wraith, Arndt Rolfs, Mario Cortina-Borja, Elizabeth Jacklin, Forbes D. Porter
Lysosomal storage disorders (LSDs) occur at a frequency of 1 in every 5,000 live births and are a common cause of pediatric neurodegenerative disease. The relatively small number of patients with LSDs and lack of validated biomarkers are substantial
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e5488da15647e4ba656436a6876745a
http://hdl.handle.net/2086/9855
http://hdl.handle.net/2086/9855
Autor:
Annick Raas-Rothschild, Dan Rorman, Lorraine Thompson, Maryam Banikazemi, Philip J. Lee, Alison Cousins, S. Waldek
Publikováno v:
British journal of nursing (Mark Allen Publishing). 17(10)
Fabry disease is an inherited, progressive, life-threatening disease; therefore, lifelong therapy is needed. By replacing the deficient enzyme, disease progression may be delayed or halted, thereby avoiding serious complications. Hospital-based agals
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5d71e3e5108bd5f0c721570ae8c1183
https://pubmed.ncbi.nlm.nih.gov/18563007
https://pubmed.ncbi.nlm.nih.gov/18563007
Publikováno v:
The Journal of clinical endocrinology and metabolism. 90(5)
Glycogen storage disease type I (GSD-I) is an inherited disorder of carbohydrate metabolism. Hepatic glucose-6-phosphatase is deficient, leading to impaired gluconeogenesis and glycogenolysis. Patients prevent fasting hypoglycemia by frequent feeds o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f22f96837996e3cdaab2406636c3b9f
https://pubmed.ncbi.nlm.nih.gov/15671110
https://pubmed.ncbi.nlm.nih.gov/15671110
Autor:
Anne Daly, Po Lun Timothy Lee, Peter Davies, S. K. Hall, Anita MacDonald, Maggie Lilburn, Peter H. Robinson, D Asplin, Alison Cousins, Anupam Chakrapani, Barbara Cochrane
Publikováno v:
Journal of inherited metabolic disease. 27(2)
Some older patients with phenylketonuria (PKU) fail to consume their protein substitute (with or without vitamin and mineral supplements) in prescribed amounts, which contributes to poor blood phenylalanine control. PKU Express (Vitaflo), is a new lo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::848be8319b2db400a084c9dc39f6de0d
https://pubmed.ncbi.nlm.nih.gov/15159643
https://pubmed.ncbi.nlm.nih.gov/15159643
Publikováno v:
The Annals of pharmacotherapy. 30(2)
OBJECTIVE:To describe 15 pediatric patients with opiate-induced respiratory depression.DESIGN:In-house adverse drug reaction (ADR) report forms were reviewed to identify any patients with suspected opiate-induced respiratory depression. Case review w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13a4c4c3f3a122f3c9b729d03a7ffc26
https://pubmed.ncbi.nlm.nih.gov/8835042
https://pubmed.ncbi.nlm.nih.gov/8835042
Publikováno v:
The Lancet. 360:2076
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5639219209702043018ff13eff9f9d65
https://doi.org/10.1016/s0140-6736(02)11959-3
https://doi.org/10.1016/s0140-6736(02)11959-3
Autor:
Alison Cousins
Publikováno v:
Nursing Standard. 16:22-22
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bcffa82db98c8f08faf853866d61107e
https://doi.org/10.7748/ns.16.45.22.s14
https://doi.org/10.7748/ns.16.45.22.s14
Publikováno v:
Journal of Clinical Neuroscience; Nov2009, Vol. 16 Issue 11, p1526-1527, 2p