Understanding the Early Presentation of Mucopolysaccharidoses Disorders

Autor: Lorne Clarke MD, Carolyn Ellaway MBBS, PhD, Helen E. Foster MD, MBBS, Roberto Giugliani MD, PhD, Cyril Goizet MD, PhD, Sarah Goring MSc, Sara Hawley MSc, Elaina Jurecki MS, RD, Zaeem Khan MPH, BSc, Christina Lampe MD, Ken Martin MD, Suzanne McMullen MHA, BSc, John J. Mitchell MD, Fathima Mubarack MSc, MHA, H. Serap Sivri MD, Martha Solano Villarreal MD, PhD, Fiona J. Stewart MB, BS, Anna Tylki-Szymanska MD, PhD, Klane White MD, MSc, Frits Wijburg MD, PhD

Publikováno v: Journal of Inborn Errors of Metabolism and Screening, Vol 7 (2018)

As therapies are developed for rare disorders, challenges of early diagnosis become particularly relevant. This article focuses on clinical recognition of mucopolysaccharidoses (MPS), a group of rare genetic diseases related to abnormalities in lysos

Externí odkaz: https://doaj.org/article/77e2c55a1f004dacb060921ca52b1269

Presenting signs and symptoms of MPS: Results of an international physician survey

Autor: Lorne A. Clarke, Suzanne McMullen, H. Serap Sivri, Cyril Goizet, Sara M. Hawley, Helen E. Foster, Christina Lampe, Anna Tylki-Szymańska, Sarah Goring, Kenneth W. Martin, Fiona Stewart, Klane K. White, Carolyn Ellaway, Elaina Jurecki, Roberto Giugliani, John J. Mitchell, Joseph Muenzer, Fathima Mubarack, Frits A. Wijburg, Zaeem Khan

Publikováno v: Molecular Genetics and Metabolism. 123:S96-S97

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::874f76fc0898b883017619794ac1e582
https://doi.org/10.1016/j.ymgme.2017.12.253

Understanding the Early Presentation of Mucopolysaccharidoses Disorders

Autor: Zaeem Khan, Fiona Stewart, Anna Tylki-Szymańska, Kenneth W. Martin, Martha Solano Villarreal, Cyril Goizet, Sarah Goring, Sara M. Hawley, Roberto Giugliani, Carolyn Ellaway, Klane K. White, Elaina Jurecki, John J. Mitchell, H. Serap Sivri, Frits A. Wijburg, Suzanne McMullen, Fathima Mubarack, Helen E. Foster, Christina Lampe, Lorne A. Clarke

Publikováno v: Journal of Inborn Errors of Metabolism and Screening, Volume: 6, Article number: e180013, Published: 28 FEB 2019
Journal of Inborn Errors of Metabolism and Screening v.6 2018
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT

As therapies are developed for rare disorders, challenges of early diagnosis become particularly relevant. This article focuses on clinical recognition of mucopolysaccharidoses (MPS), a group of rare genetic diseases related to abnormalities in lysos

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de9012e256434d9a9e259515bfdb74b5
https://doi.org/10.1177/2326409818800346