Expert Opinions on Managing Fertility and Pregnancy in Patients With Mucopolysaccharidosis

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

Pregnancy in patients with mucopolysaccharidosis:A case series

Autor: Stephen Sande, Fiona Stewart, Susan Hale, Zlatko Sisic, Pavan K. Kochhar, Nathalie Guffon, Ursula Plöckinger, Andrew Bentley, Barbara K. Burton, Tracey A. Johnston, Paul Harmatz, Sue Graham, Susanne Gerit Kircher, John J. Mitchell

Publikováno v: Stewart, F J, Bentley, A, Burton, B K, Guffon, N, Hale, S L, Harmatz, P R, Kircher, S G, Kochhar, P K, Mitchell, J J, Plöckinger, U, Graham, S, Sande, S, Sisic, Z & Johnston, T A 2016, ' Pregnancy in patients with mucopolysaccharidosis : A case series ', Molecular Genetics and Metabolism Reports, vol. 8, pp. 111-115 . https://doi.org/10.1016/j.ymgmr.2016.08.002
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 8, Iss C, Pp 111-115 (2016)
Stewart, FJ, Bentley, A, Burton, BK, Guffon, N, Hale, SL, Harmatz, PR, Kircher, SG, Kochhar, PK, Mitchell, JJ, Plöckinger, U, Graham, S, Sande, S, Sisic, Z & Johnston, TA 2016, ' Pregnancy in patients with mucopolysaccharidosis: a case series. ', Molecular Genetics and Metabolism Reports . https://doi.org/10.1016/j.ymgmr.2016.08.002

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://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e0594e935feac365117576e5b5d9571
http://www.scopus.com/inward/record.url?scp=84983627528&partnerID=8YFLogxK

Concrete manufacture with un‐graded recycled aggregates

Autor: Sue Graham, Kathryn Coventry, Alan Richardson

Publikováno v: Structural Survey. 27:62-70

PurposeThe purpose of this paper is to investigate whether concrete that includes un‐graded recycled aggregates can be manufactured to a comparable strength to concrete manufactured from virgin aggregates.Design/methodology/approachA paired compari

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2fe2ed523aa881e72b9a30d762586e3
https://doi.org/10.1108/02630800910941692

Growth Charts for Individuals with Mucopolysaccharidosis VI (Maroteaux–Lamy Syndrome)

Autor: Rossella Parini, Christian J. Hendriksz, Ping Lin, Adrian Quartel, Sue Graham, Paul Harmatz

Publikováno v: JIMD Reports ISBN: 9783662448625

Background: The skeletal phenotype of mucopolysaccharidosis VI (MPS VI) is characterized by short stature and growth failure. Objective: The purpose of this study was to construct reference growth curves for MPS VI patients with rapidly and slowly pr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8530711c39009e5d525715bc2eb09ed
https://doi.org/10.1007/8904_2014_333

Growth charts for individuals with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)

Autor: Ping Lin, Adrian Quartel, Sue Graham, Paul Harmatz

Publikováno v: Molecular Genetics and Metabolism. 111:S88-S89

Background: The skeletal phenotype of mucopolysaccharidosis VI (MPS VI) is characterized by short stature and growth failure.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8a78952f4a60b9efdcb3617890861742
https://doi.org/10.1016/j.ymgme.2013.12.214