TY  - GEN
AU  - Rimella-Le-Huu,A
AU  - Henry,H
AU  - Kern,I
AU  - Hanquinet,S
AU  - Roulet-Perez,E
AU  - Newman,C J
AU  - Superti-Furga,A
AU  - Bonafé,L
AU  - Ballhausen,D
TI  - Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient
SN  - 1573-2665
PY  - 2012///0111
KW  - Biomarkers
KW  - blood
KW  - Brain
KW  - enzymology
KW  - Child Development
KW  - Child, Preschool
KW  - Congenital Disorders of Glycosylation
KW  - complications
KW  - Genotype
KW  - Humans
KW  - Infant
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Mannosyltransferases
KW  - genetics
KW  - Mutation, Missense
KW  - Neurologic Examination
KW  - Phenotype
KW  - Transferrin
KW  - analysis
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1007/s10545-008-0959-x
ER  -