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

SPR 2015.

Publikováno v: Pediatric Radiology; Apr2015 Supplement, Vol. 45, p1-246, 246p, 38 Color Photographs, 45 Black and White Photographs, 13 Diagrams, 54 Charts, 63 Graphs