Zobrazeno 1 - 10
of 291
pro vyhledávání: '"Sandra Sirrs"'
Autor:
Sandra Sirrs, Elisa Fabbro, Annalisa Sechi, for the SSIEM Adult Metabolic Medicine Training Competencies Working Group
Publikováno v:
JIMD Reports, Vol 63, Iss 5, Pp 468-474 (2022)
Abstract The rapid expansion of the number of adult patients with inherited metabolic diseases (IMDs) has created demand for physicians with expertise in the field of adult metabolic medicine (AMM). Unfortunately, existing accredited training program
Externí odkaz:
https://doaj.org/article/9f9129fabf5a4e80ab304ada4f63f9a1
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 34, Iss , Pp 100955- (2023)
Background: Glycogen storage disease type Ib (GSD Ib) is an autosomal recessively inherited deficiency of the glucose-6-phosphate translocase (G6PT). Clinical features include a combination of a metabolic phenotype (fasting hypoglycemia, lactic acido
Externí odkaz:
https://doaj.org/article/6e97deeafee84299b9a4649cc5db85fc
Autor:
Abrar Turki, Sylvia Stockler, Sandra Sirrs, Ramona Salvarinova, Gloria Ho, Jennifer Branov, Annie Rosen-Heath, Taryn Bosdet, Rajavel Elango
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 31, Iss , Pp 100880- (2022)
Background: Glycogen storage disease type Ia (GSD Ia) is an autosomal recessive disorder caused by deficiency of glucose-6-phosphatase (G6Pase), resulting in fasting hypoglycemia. Dietary treatment with provision of uncooked cornstarch (UCCS) or a no
Externí odkaz:
https://doaj.org/article/920b0e4eec9349018abe02e4bad4c684
Autor:
Carla E. M. Hollak, Sandra Sirrs, Sibren van den Berg, Vincent van der Wel, Mirjam Langeveld, Hanka Dekker, Robin Lachmann, Saco J. de Visser
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-7 (2020)
Abstract Independent disease registries for pre-and post-approval of novel treatments for rare diseases are increasingly important for healthcare professionals, patients, regulators and the pharmaceutical industry. Current registries for rare disease
Externí odkaz:
https://doaj.org/article/afbdd2fe69ca4f0281f87c332c225ba6
Autor:
Joseph Leung, Caroline Selvage, Taryn Bosdet, Jennifer Branov, Annie Rosen-Heath, Carole Bishop, Sandra Sirrs, Gabriella Horvath
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 15, Iss , Pp 100-105 (2018)
Introduction: Phenylketonuria (PKU) is an inborn error of metabolism associated with an increased risk of behavioural and mood disorders. There are currently no reliable markers for monitoring mood in PKU. The purpose of this study was to evaluate sa
Externí odkaz:
https://doaj.org/article/72cd37d8cfbd4dd68f11e4e7b3cde828
Autor:
Tarekegn Geberhiwot, Alessandro Moro, Andrea Dardis, Uma Ramaswami, Sandra Sirrs, Mercedes Pineda Marfa, Marie T. Vanier, Mark Walterfang, Shaun Bolton, Charlotte Dawson, Bénédicte Héron, Miriam Stampfer, Jackie Imrie, Christian Hendriksz, Paul Gissen, Ellen Crushell, Maria J. Coll, Yann Nadjar, Hans Klünemann, Eugen Mengel, Martin Hrebicek, Simon A. Jones, Daniel Ory, Bruno Bembi, Marc Patterson, on behalf of the International Niemann-Pick Disease Registry (INPDR)
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-19 (2018)
Abstract Niemann-Pick Type C (NPC) is a progressive and life limiting autosomal recessive disorder caused by mutations in either the NPC1 or NPC2 gene. Mutations in these genes are associated with abnormal endosomal-lysosomal trafficking, resulting i
Externí odkaz:
https://doaj.org/article/133c728d8bde41bfb85dc58ba966d00c
Autor:
Ju Huang, Aneal Khan, Bryan C. Au, Dwayne L. Barber, Lucía López-Vásquez, Nicole L. Prokopishyn, Michel Boutin, Michael Rothe, Jack W. Rip, Mona Abaoui, Murtaza S. Nagree, Shaalee Dworski, Axel Schambach, Armand Keating, Michael L. West, John Klassen, Patricia V. Turner, Sandra Sirrs, C. Anthony Rupar, Christiane Auray-Blais, Ronan Foley, Jeffrey A. Medin
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 5, Iss C, Pp 241-258 (2017)
Fabry disease is a rare lysosomal storage disorder (LSD). We designed multiple recombinant lentivirus vectors (LVs) and tested their ability to engineer expression of human α-galactosidase A (α-gal A) in transduced Fabry patient CD34+ hematopoietic
Externí odkaz:
https://doaj.org/article/72a85a8769b142ad9ecbd535f945b6c9
Autor:
Majid Alfadhel, Sandra Sirrs
Publikováno v:
Therapeutics and Clinical Risk Management, Vol 2011, Iss default, Pp 69-82 (2011)
Majid Alfadhel1, Sandra Sirrs21Division of Biochemical Diseases, Department of Paediatrics, BC Children’s and Women’s Hospital, University of British Columbia, Vancouver, BC, Canada; 2Adult Metabolic Diseases Clinic, Division of Endocrinology, De
Externí odkaz:
https://doaj.org/article/1c4978b088b9417ab1430f2f8f50c8e6
Publikováno v:
International Journal of Endocrinology, Vol 2011 (2011)
Primary hyperparathyroidism is a common condition that affects 0.3% of the general population. Primary and tertiary care specialists can encounter patients with primary hyperparathyroidism, and prompt recognition and treatment can greatly reduce morb
Externí odkaz:
https://doaj.org/article/15bdf448a8a146aab4b33492a7ae0120
Autor:
Sandra Sirrs, Helen Anderson, Bashir Jiwani, Larry Lynd, Eric Lun, Bob Nakagawa, Dean Regier, Shirin Rizzardo, Anne McFarlane
Publikováno v:
HealthcarePapers. 21:10-26