Deficiency of the circulating insulin-like growth factor system associated with inactivation of the acid-labile subunit gene.
نویسندگان
چکیده
From the Endocrinology Research Center, Division of Endocrinology, Ricardo Gutiérrez Children’s Hospital (H.M.D., A.S.M., M.G.R., P.P., P.S., J.J.H., H.G.J.); and the Division of Pediatrics, J.A. Fernández Hospital (S.V.B.) — both in Buenos Aires, Argentina. Address reprint requests to Mr. Domené at the Endocrinology Research Center (CEDIE), Division of Endocrinology, Ricardo Gutiérrez Children’s Hospital, Gallo 1330, 1425 Buenos Aires, Argentina, or at [email protected].
منابع مشابه
Human acid-labile subunit deficiency: clinical, endocrine and metabolic consequences.
The majority of insulin-like growth factor (IGF)-I and IGF-II circulate in the serum as a complex with the insulin-like growth factor binding protein (IGFBP)-3 or IGFBP-5, and an acid-labile subunit (ALS). The function of ALS is to prolong the half-life of the IGF-I-IGFBP-3/IGFBP-5 binary complexes. Fourteen different mutations of the human IGFALS gene have been identified in 17 patients, sugge...
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ورودعنوان ژورنال:
- The New England journal of medicine
دوره 350 6 شماره
صفحات -
تاریخ انتشار 2004