Quantitative clinical characteristics of 53 patients with MPS VII: a cross-sectional analysis.

Matthias Zielonka Sven F GarbadeStefan KölkerGeorg F HoffmannMarkus Ries

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2017)

MPS VII has its disease onset prenatally. In the absence of a prenatal diagnosis, most cases are clinically apparent at birth. Our data corroborate a phenotype-biomarker association in MPS VII. The survival data characterize the natural history with important implications for therapeutic studies.Genet Med advance online publication 06 April 2017.

Keyphrases

electronic health record
big data
high resolution
social media
healthcare
computed tomography
pregnant women
gestational age
diffusion weighted imaging
deep learning
preterm birth