Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Susan L. Hale"'
Autor:
Fiona J. Stewart, Andrew Bentley, Barbara K. Burton, Nathalie Guffon, Susan L. Hale, Paul R. Harmatz, Susanne G. Kircher, Pavan K. Kochhar, John J. Mitchell, Ursula Plöckinger, Sue Graham, Stephen Sande, Zlatko Sisic, Tracey A. Johnston
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 8, Iss C, Pp 111-115 (2016)
The mucopolysaccharidoses (MPS disorders) are rare inherited diseases associated with multi-organ accumulation of glycosaminoglycans, leading to musculoskeletal, respiratory, cardiac, neurological, ophthalmological, otolaryngological, and gastrointes
Externí odkaz:
https://doaj.org/article/86406aef95dc4f2fac4a8c60041dc322
Autor:
Fiona Stewart MB, BS, Andrew Bentley MD, Barbara K Burton MD, Nathalie Guffon MD, Susan L. Hale MN, ARNP, Paul R. Harmatz MD, Susanne G. Kircher MD, Pavan K. Kochhar MD, John J. Mitchell MD, Ursula Plöckinger MD, Jennifer Semotok MSc, PhD, Sue Graham MSc, Stephen Sande PhD, Zlatko Sisic MD, Tracey A. Johnston MD
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 4 (2016)
The mucopolysaccharidosis (MPS) disorders are rare genetic diseases caused by deficiencies in lysosomal enzymes involved in the degradation of glycosaminoglycans, leading to pulmonary, cardiac and neurological dysfunctions, skeletal anomalies, impair
Externí odkaz:
https://doaj.org/article/88cc6463f86e47efa9e1e16fd5f5f9fd
Publikováno v:
Pediatrics international : official journal of the Japan Pediatric Society. 55(6)
Deficiency in methylmalonyl-coenzyme A mutase (MCM) is associated with accumulation of methylmalonic acid (MMA) and clinical outcomes that include early death and neurological impairment. Reported here are two unrelated patients with a homozygous p.P
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9ea2e44347713ba8ce52821a83a40cba
https://pubmed.ncbi.nlm.nih.gov/24330302
https://pubmed.ncbi.nlm.nih.gov/24330302