TY  - GEN
AU  - Pérez,Belén
AU  - Medrano,Celia
AU  - Ecay,Maria Jesus
AU  - Ruiz-Sala,Pedro
AU  - Martínez-Pardo,Mercedes
AU  - Ugarte,Magdalena
AU  - Pérez-Cerdá,Celia
TI  - A novel congenital disorder of glycosylation type without central nervous system involvement caused by mutations in the phosphoglucomutase 1 gene
SN  - 1573-2665
PY  - 2013///1231
KW  - Adolescent
KW  - Carbohydrate Metabolism
KW  - genetics
KW  - Carbohydrate Sequence
KW  - Central Nervous System
KW  - metabolism
KW  - Congenital Disorders of Glycosylation
KW  - classification
KW  - DNA Mutational Analysis
KW  - Humans
KW  - Male
KW  - Molecular Sequence Data
KW  - Mutation, Missense
KW  - physiology
KW  - Phosphoglucomutase
KW  - Polymorphism, Single Nucleotide
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1007/s10545-012-9525-7
ER  -