Primary acid-labile subunit deficiency due to recessive IGFALS mutations results in postnatal growth deficit associated with low circulating insulin growth factor (IGF)-I, IGF binding protein-3 levels, and hyperinsulinemia.

Heath, Karen E

Primary acid-labile subunit deficiency due to recessive IGFALS mutations results in postnatal growth deficit associated with low circulating insulin growth factor (IGF)-I, IGF binding protein-3 levels, and hyperinsulinemia. [electronic resource] - The Journal of clinical endocrinology and metabolism May 2008 - 1616-24 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

0021-972X

10.1210/jc.2007-2678 doi


Adolescent
Blotting, Western
Body Height
Bone Density
Carrier Proteins--blood
Child, Preschool
Genes, Recessive
Glycoproteins--blood
Growth Disorders--etiology
Haplotypes
Humans
Hyperinsulinism--etiology
Insulin-Like Growth Factor Binding Protein 3--blood
Insulin-Like Growth Factor I--analysis
Male
Mutation
Puberty