about
Early manifestations of type 1 Gaucher disease in presymptomatic children diagnosed after parental carrier screening.Functional variants in the LRRK2 gene confer shared effects on risk for Crohn's disease and Parkinson's disease.Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutationsPorphyria cutanea tarda and hepatoerythropoietic porphyria: Identification of 19 novel uroporphyrinogen III decarboxylase mutationsCongenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations
P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Robert J Desnick
@ast
Robert J Desnick
@en
Robert J Desnick
@es
Robert J Desnick
@nl
type
label
Robert J Desnick
@ast
Robert J Desnick
@en
Robert J Desnick
@es
Robert J Desnick
@nl
altLabel
Desnick RJ
@en
prefLabel
Robert J Desnick
@ast
Robert J Desnick
@en
Robert J Desnick
@es
Robert J Desnick
@nl
P106
P31
P4012
P496
0000-0001-5501-2971