TY  - GEN
AU  - García-Silva,M T
AU  - Matthijs,G
AU  - Schollen,E
AU  - Cabrera,J C
AU  - Sanchez del Pozo,J
AU  - Martí Herreros,M
AU  - Simón,R
AU  - Maties,M
AU  - Martín Hernández,E
AU  - Hennet,T
AU  - Briones,P
TI  - Congenital disorder of glycosylation (CDG) type Ie. A new patient
SN  - 0141-8955
PY  - 2005///0324
KW  - Brain
KW  - pathology
KW  - Carbohydrate Metabolism, Inborn Errors
KW  - classification
KW  - Child
KW  - Developmental Disabilities
KW  - genetics
KW  - Exons
KW  - Facies
KW  - Female
KW  - Fibroblasts
KW  - metabolism
KW  - Gene Deletion
KW  - Heterozygote
KW  - Homozygote
KW  - Humans
KW  - Lipopolysaccharides
KW  - analysis
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Mannosyltransferases
KW  - deficiency
KW  - Microcephaly
KW  - Mutation
KW  - Optic Atrophy
KW  - Tomography, X-Ray Computed
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1023/b:boli.0000042984.42433.d8
ER  -