Zobrazeno 1 - 10
of 45
pro vyhledávání: '"Robin Casey"'
Publikováno v:
Landscape Architecture, 2001 Dec 01. 91(12), 22-77.
Externí odkaz:
https://www.jstor.org/stable/44673136
Publikováno v:
The American Journal of Family Therapy. 42:438-451
Female graduate students in counseling and clinical psychology retrospectively rated maternal and paternal boundaries in their families of origin. Subscales of the Eating Disorders Inventory-3 were used to assess disordered eating, including drive fo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bdc049da06c692b9d7423178afa83d6c
https://doi.org/10.1080/01926187.2014.912103
https://doi.org/10.1080/01926187.2014.912103
Publikováno v:
Neuropathology. 32:617-627
Electron microscopy (EM) is a reliable method for diagnosing mitochondrial diseases in striated muscle biopsy in infancy. Ultrastructural alterations in mitochondria of myofibers are well documented, but there are few studies of endothelial involveme
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::585d4828761757984c2069094ea4ae2c
https://doi.org/10.1111/j.1440-1789.2012.01308.x
https://doi.org/10.1111/j.1440-1789.2012.01308.x
Autor:
Karen E. Colobong, Harmony Hemmelgarn, Robin Casey, Lorne A. Clarke, Sylvia Stockler, Paul Fernoff, John J. Mitchell, Alicia Chan, Anita Thomas
Publikováno v:
Journal of Inherited Metabolic Disease. 35:355-362
Monitoring of therapeutic response in mucopolysaccharidosis (MPS) patients is problematic as most biomarkers are specific for either disease complications or specific organ system involvement. Recent studies have indicated that serum heparin-cofactor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a05a229dfb22c3f418de1138a74cc537
https://doi.org/10.1007/s10545-011-9369-6
https://doi.org/10.1007/s10545-011-9369-6
Autor:
Joe T.R. Clarke, Michael West, Aimé Ntwari, Christiane Auray-Blais, René Gagnon, Robin Casey, João Paulo Oliveira, Wuh-Liang Hwu, Sarah P. Young, Sandra Sirrs, David G. Warnock, Joan Keutzer, X. Kate Zhang, David S. Millington, Daniel G. Bichet
Publikováno v:
Clinica Chimica Acta. 411:1906-1914
Fabry disease is characterized by accumulation of glycosphingolipids, such as globotriaosylceramide (Gb(3)), in many tissues and body fluids. A novel plasma biomarker, globotriaosylsphingosine (lyso-Gb(3)), is increased in patients with the disease.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::165a17cb7fce120c4e9f60cbfdbff12e
https://doi.org/10.1016/j.cca.2010.07.038
https://doi.org/10.1016/j.cca.2010.07.038
Autor:
Tony Rupar, Olaf Bodamer, Robin Casey, Elly Hetty, Grant A. Mitchell, Harmony Hemmelgarn, Derrick R. Randall, Paul M. Fernhoff, Lorne A. Clarke, Alicia K. Chan, Anita Thomas, Barbara Volkmar, Karen E. Colobong, Silvia Stockler, Graham Sinclair, Serge Melancon
Publikováno v:
Molecular Genetics and Metabolism. 94:456-461
The mucopolysaccharidoses are a group of lysosomal storage disorders caused by defects in the degradation of glycosaminoglycans. Each disorder is characterized by progressive multi-system disease with considerable clinical heterogeneity. The clinical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cc4b698a588b4b35e40c316e7b5a7b6
https://doi.org/10.1016/j.ymgme.2008.05.001
https://doi.org/10.1016/j.ymgme.2008.05.001
Autor:
John P. Clancy, Joel Charrow, Dawn Phillips, Priya S. Kishnani, Robin Casey, Khan Nedd, Heidi Peters, Mary Nevins, Majed Dasouki, Zachary Spigelman, Cynthia J. Tifft, Stephanie DeArmey, Carl Bjartmar, Laura E. Case, Claire Morgan
Publikováno v:
Neuromuscular disorders : NMD. 25(4)
Emerging phenotypes in long-term survivors with Pompe disease on standard enzyme replacement therapy (ERT) (alglucosidase alfa 20 mg/kg/2 weeks) can include patients with worsening motor function. Whether higher doses of ERT improve skeletal function
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c8290f346457e864c8ec7187e278470
https://pubmed.ncbi.nlm.nih.gov/25617983
https://pubmed.ncbi.nlm.nih.gov/25617983
Autor:
Khemissa Bejaoui, Aneal Khan, Colleen Curtis, Xing-Chang Wei, Alfredo Pinto-Rojas, Harvey B. Sarnat, Robin Casey
Publikováno v:
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques. 41(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa135bfae08657f1a97e22ea15eec6a7
https://pubmed.ncbi.nlm.nih.gov/24878481
https://pubmed.ncbi.nlm.nih.gov/24878481
Autor:
Elana Lopez-Rangel, Michael B. Petersen, Damina Balmer, Dieter Kotzot, Michael S. Wang, Wendy P. Robinson, B. N. Chodirker, Jolanda Gyftodimou, Robin Casey, Albert Schinzel
Publikováno v:
American Journal of Medical Genetics. 86:34-43
Williams-Beuren syndrome (WBS) results from a deletion of 7q11.23 in 90-95% of all clinically typical cases. Clinical manifestation can be variable and therefore, deletion size, inherited elastin (ELN) and LIM kinase 1 (LIMK1) alleles, gender, and pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::961544282706e0b55eee2f4981ff686b
https://doi.org/10.1002/(sici)1096-8628(19990903)86:1<34::aid-ajmg7>3.0.co
https://doi.org/10.1002/(sici)1096-8628(19990903)86:1<34::aid-ajmg7>3.0.co