Anthropometric Phenotype of Patients with PMM2-CDG.

Patryk LipińskiAgnieszka Różdżyńska-ŚwiątkowskaAnna BogdańskaAnna Tylki-Szymańska

Published in: Children (Basel, Switzerland) (2021)

Long-term observational studies are essential to characterize the anthropometric phenotype. The body growth failure, as well as head circumference growth failure, were more severe in patients found to be heterozygous for R141H.

Keyphrases

end stage renal disease
body composition
ejection fraction
newly diagnosed
chronic kidney disease
body mass index
prognostic factors
patient reported outcomes
optic nerve
drug induced