The acid-labile subunit (ALS) protein is a key component of the circulating 150-kDa IGF ternary complex. The main role of ALS is the extension of IGF-I half life by protecting it from degradation and preventing the passage of IGF-I to the extravascular compartment. In humans, complete ALS deficiency is characterized by severe reduction of IGF-I and IGFBP-3 that remain low after GH treatment, associated with mild growth retardation, much less pronounced than the IGF-I deficit. Pubertal delay in boys and insulin insensitivity are common findings. At least 21 patients with ALS deficiency have been described presenting 16 different homozygous or compound heterozygous inactivating mutations of the IGFALS gene. Although the effect of ALS deficien...
Item does not contain fulltextCONTEXT: Acid-labile subunit (ALS) deficiency due to homozygous inacti...
Context: To date, 16 IGFALS mutations in 21 patients with acid-labile subunit (ALS) deficiency have ...
3Context: Acid-labile subunit (ALS) deficiency due to homozygous inactivation of the ALS gene (IGFAL...
The acid-labile subunit (ALS) protein is crucial for maintaining the integrity of the circulating IG...
The majority of insulin-like growth factor (IGF)-I and IGF-II circulate in the serum as a complex wi...
The majority of insulin-like growth factor (IGF)-I and IGF-II circulate in the serum as a complex wi...
The majority of insulin-like growth factor (IGF)-I and IGF-II circulate in the serum as a complex wi...
Acid-labile subunit (ALS) deficiency (ACLSD) constitutes the first monogenic defect involving a memb...
Acid-labile subunit (ALS) forms ternary complexes with insulin like growth factor-1 (IGF-1) and IGF-...
Background: In acid-labile subunit (ALS)-deficient families, heterozygous carriers of IGFALS gene mu...
We report a novel missense mutation p.T145K in the insulin-like growth factor (IGF) acid-labile subu...
Acid-labile subunit (ALS) is essential for stabilization of IGF-I and IGFBP-3 in ternary complexes w...
Background: Homozygous mutations in acid-labile subunit (IGFALS) gene result in short stature, very ...
Context: Acid-labile subunit (ALS) deficiency due to homozygous inactivation of the ALS gene (IGFALS...
CONTEXT: Acid-labile subunit (ALS) deficiency due to homozygous inactivation of the ALS gene (IGFALS...
Item does not contain fulltextCONTEXT: Acid-labile subunit (ALS) deficiency due to homozygous inacti...
Context: To date, 16 IGFALS mutations in 21 patients with acid-labile subunit (ALS) deficiency have ...
3Context: Acid-labile subunit (ALS) deficiency due to homozygous inactivation of the ALS gene (IGFAL...
The acid-labile subunit (ALS) protein is crucial for maintaining the integrity of the circulating IG...
The majority of insulin-like growth factor (IGF)-I and IGF-II circulate in the serum as a complex wi...
The majority of insulin-like growth factor (IGF)-I and IGF-II circulate in the serum as a complex wi...
The majority of insulin-like growth factor (IGF)-I and IGF-II circulate in the serum as a complex wi...
Acid-labile subunit (ALS) deficiency (ACLSD) constitutes the first monogenic defect involving a memb...
Acid-labile subunit (ALS) forms ternary complexes with insulin like growth factor-1 (IGF-1) and IGF-...
Background: In acid-labile subunit (ALS)-deficient families, heterozygous carriers of IGFALS gene mu...
We report a novel missense mutation p.T145K in the insulin-like growth factor (IGF) acid-labile subu...
Acid-labile subunit (ALS) is essential for stabilization of IGF-I and IGFBP-3 in ternary complexes w...
Background: Homozygous mutations in acid-labile subunit (IGFALS) gene result in short stature, very ...
Context: Acid-labile subunit (ALS) deficiency due to homozygous inactivation of the ALS gene (IGFALS...
CONTEXT: Acid-labile subunit (ALS) deficiency due to homozygous inactivation of the ALS gene (IGFALS...
Item does not contain fulltextCONTEXT: Acid-labile subunit (ALS) deficiency due to homozygous inacti...
Context: To date, 16 IGFALS mutations in 21 patients with acid-labile subunit (ALS) deficiency have ...
3Context: Acid-labile subunit (ALS) deficiency due to homozygous inactivation of the ALS gene (IGFAL...