TY  - GEN
AU  - Domené,Horacio M
AU  - Hwa,Vivian
AU  - Argente,Jesús
AU  - Wit,Jan M
AU  - Wit,Jaan M
AU  - Camacho-Hübner,Cecilia
AU  - Jasper,Héctor G
AU  - Pozo,Jesús
AU  - van Duyvenvoorde,Hermine A
AU  - Yakar,Shoshana
AU  - Fofanova-Gambetti,Olga V
AU  - Rosenfeld,Ron G
TI  - Human acid-labile subunit deficiency: clinical, endocrine and metabolic consequences
SN  - 1423-0046
PY  - 2009///1106
KW  - Adolescent
KW  - Adult
KW  - Animals
KW  - Birth Weight
KW  - Body Height
KW  - genetics
KW  - Bone and Bones
KW  - metabolism
KW  - Calcification, Physiologic
KW  - Carbohydrate Metabolism
KW  - Carrier Proteins
KW  - Child
KW  - Child, Preschool
KW  - Female
KW  - Frameshift Mutation
KW  - Glycoproteins
KW  - deficiency
KW  - Humans
KW  - Infant, Newborn
KW  - Insulin-Like Growth Factor Binding Protein 1
KW  - blood
KW  - Insulin-Like Growth Factor Binding Protein 3
KW  - Insulin-Like Growth Factor I
KW  - Insulin-Like Growth Factor II
KW  - Male
KW  - Mice
KW  - Mice, Knockout
KW  - Mutation, Missense
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Review
UR  - https://doi.org/10.1159/000232486
ER  -