TY - GEN AU - Buczkowska,Anna AU - Swiezewska,Ewa AU - Lefeber,Dirk J TI - Genetic defects in dolichol metabolism SN - 1573-2665 PY - 2015///1008 KW - Animals KW - Congenital Disorders of Glycosylation KW - diagnosis KW - Cytoplasm KW - metabolism KW - Dolichols KW - genetics KW - Endoplasmic Reticulum KW - Glycosylation KW - Golgi Apparatus KW - Humans KW - Mice KW - Oxidoreductases KW - Phenotype KW - Phosphotransferases (Alcohol Group Acceptor) N1 - Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Review UR - https://doi.org/10.1007/s10545-014-9760-1 ER -