{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T01:11:02Z","timestamp":1790644262473,"version":"4.1.0"},"reference-count":28,"publisher":"The Endocrine Society","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2008,5,1]]},"DOI":"10.1210\/jc.2007-2678","type":"journal-article","created":{"date-parts":[[2008,2,26]],"date-time":"2008-02-26T20:34:24Z","timestamp":1204058064000},"page":"1616-1624","source":"Crossref","is-referenced-by-count":63,"title":["Primary Acid-Labile Subunit Deficiency due to Recessive<i>IGFALS<\/i>Mutations Results in Postnatal Growth Deficit Associated with Low Circulating Insulin Growth Factor (IGF)-I, IGF Binding Protein-3 Levels, and Hyperinsulinemia"],"prefix":"10.1210","volume":"93","author":[{"given":"Karen E.","family":"Heath","sequence":"first","affiliation":[{"name":"Departments of Endocrinology (K.E.H., J.A., V.B., J.P., F.D.-G., G.A.M.-M., A.C.-B.), Hospital Infantil Universitario Nin\u0303o Jesu\u0301s, Universidad Auto\u0301noma de Madrid, 28009 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jesu\u0301s","family":"Argente","sequence":"additional","affiliation":[{"name":"Centro de Investigacio\u0301n Biome\u0301dica En Red (CIBER) Fisiopatologi\u0301a Obesidad y Nutricio\u0301n (CB06\/03) (J.A., V.B., J.P., G.A.M.-M.), Instituto de Salud Carlos III, 28029 Madrid, Spain"},{"name":"Departments of Endocrinology (K.E.H., J.A., V.B., J.P., F.D.-G., G.A.M.-M., A.C.-B.), Hospital Infantil Universitario Nin\u0303o Jesu\u0301s, Universidad Auto\u0301noma de Madrid, 28009 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vicente","family":"Barrios","sequence":"additional","affiliation":[{"name":"Centro de Investigacio\u0301n Biome\u0301dica En Red (CIBER) Fisiopatologi\u0301a Obesidad y Nutricio\u0301n (CB06\/03) (J.A., V.B., J.P., G.A.M.-M.), Instituto de Salud Carlos III, 28029 Madrid, Spain"},{"name":"Departments of Endocrinology (K.E.H., J.A., V.B., J.P., F.D.-G., G.A.M.-M., A.C.-B.), Hospital Infantil Universitario Nin\u0303o Jesu\u0301s, Universidad Auto\u0301noma de Madrid, 28009 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jesu\u0301s","family":"Pozo","sequence":"additional","affiliation":[{"name":"Centro de Investigacio\u0301n Biome\u0301dica En Red (CIBER) Fisiopatologi\u0301a Obesidad y Nutricio\u0301n (CB06\/03) (J.A., V.B., J.P., G.A.M.-M.), Instituto de Salud Carlos III, 28029 Madrid, Spain"},{"name":"Departments of Endocrinology (K.E.H., J.A., V.B., J.P., F.D.-G., G.A.M.-M., A.C.-B.), Hospital Infantil Universitario Nin\u0303o Jesu\u0301s, Universidad Auto\u0301noma de Madrid, 28009 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisca","family":"Di\u0301az-Gonza\u0301lez","sequence":"additional","affiliation":[{"name":"Departments of Endocrinology (K.E.H., J.A., V.B., J.P., F.D.-G., G.A.M.-M., A.C.-B.), Hospital Infantil Universitario Nin\u0303o Jesu\u0301s, Universidad Auto\u0301noma de Madrid, 28009 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabriel A.","family":"Martos-Moreno","sequence":"additional","affiliation":[{"name":"Centro de Investigacio\u0301n Biome\u0301dica En Red (CIBER) Fisiopatologi\u0301a Obesidad y Nutricio\u0301n (CB06\/03) (J.A., V.B., J.P., G.A.M.-M.), Instituto de Salud Carlos III, 28029 Madrid, Spain"},{"name":"Departments of Endocrinology (K.E.H., J.A., V.B., J.P., F.D.-G., G.A.M.-M., A.C.-B.), Hospital Infantil Universitario Nin\u0303o Jesu\u0301s, Universidad Auto\u0301noma de Madrid, 28009 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mari\u0301a","family":"Caimari","sequence":"additional","affiliation":[{"name":"Department of Pediatrics (M.C.), Hospital Universitario Son Dureta, Universidad de Palma de Mallorca, 07014 Palma de Mallorca, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ricardo","family":"Gracia","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology (R.G.), Hospital Universitario La Paz, Universidad Auto\u0301noma de Madrid, 28049 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A\u0301ngel","family":"Campos-Barros","sequence":"additional","affiliation":[{"name":"Departments of Endocrinology (K.E.H., J.A., V.B., J.P., F.D.-G., G.A.M.-M., A.C.-B.), Hospital Infantil Universitario Nin\u0303o Jesu\u0301s, Universidad Auto\u0301noma de Madrid, 28009 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","reference":[{"key":"key\n\t\t\t\t2019041113550705800_R1","doi-asserted-by":"crossref","first-page":"1347","DOI":"10.1210\/jcem-70-5-1347","article-title":"Circulating levels and molecular distribution of the acid-labile \u03b1 subunit of the high molecular weight insulin-like growth factor-binding protein complex.","volume":"70","author":"Baxter","year":"1990","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113550705800_R2","first-page":"148","article-title":"Normative data for total and free acid-labile subunit of the human insulin-like growth factor binding protein complex in pre- and full term newborns and healthy boys and girls throughout postnatal development.","volume":"53","author":"Barrios","year":"2000","journal-title":"Horm Res"},{"key":"key\n\t\t\t\t2019041113550705800_R3","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1677\/joe.0.1700063","article-title":"The acid-labile subunit (ALS) of the 150 kDa IGF-binding protein complex: an important but forgotten component of the circulating IGF system.","volume":"170","author":"Boisclair","year":"2001","journal-title":"J Endocrinol"},{"key":"key\n\t\t\t\t2019041113550705800_R4","doi-asserted-by":"crossref","first-page":"1139","DOI":"10.1056\/NEJMoa022926","article-title":"Growth hormone insensitivity associated with a STAT5b mutation.","volume":"18","author":"Kofoed EM; Hwa","year":"2003","journal-title":"N Engl J Med"},{"key":"key\n\t\t\t\t2019041113550705800_R5","doi-asserted-by":"crossref","first-page":"2211","DOI":"10.1056\/NEJMoa010107","article-title":"Intrauterine growth retardation (IUGR) study group. IGF-I receptor mutations in intrauterine and postnatal growth retardation.","volume":"349","author":"Abuzzahab","year":"2003","journal-title":"N Engl J Med"},{"key":"key\n\t\t\t\t2019041113550705800_R6","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1016\/j.tem.2007.03.004","article-title":"Defects in growth hormone receptor signaling.","volume":"18","author":"Rosenfeld","year":"2007","journal-title":"Trends Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113550705800_R7","doi-asserted-by":"crossref","first-page":"1066","DOI":"10.1210\/jc.2004-0092","article-title":"Editorial: toward a molecular basis for idiopathic short stature.","volume":"89","author":"Rosenfeld","year":"2004","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113550705800_R8","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1056\/NEJMoa013100","article-title":"Deficiency of the circulating insulin-like growth factor system associated with inactivation of the acid-labile subunit gene.","volume":"350","author":"Domene\u0301","year":"2004","journal-title":"N Engl J Med"},{"key":"key\n\t\t\t\t2019041113550705800_R9","doi-asserted-by":"crossref","first-page":"1826","DOI":"10.1210\/jc.2005-2842","article-title":"Total absence of functional acid labile subunit, resulting in severe insulin-like growth factor deficiency and moderate growth failure.","volume":"91","author":"Hwa","year":"2006","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113550705800_R10","doi-asserted-by":"crossref","first-page":"4441","DOI":"10.1210\/jc.2007-1152","article-title":"Phenotypic effects of null and haploinsufficiency of acid-labile subunit in a family with two novel IGFALS gene mutations.","volume":"92","author":"Domene\u0301","year":"2007","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113550705800_R11","first-page":"154","article-title":"A simple, efficient method for the separate isolation of RNA and DNA from the same cells.","volume":"8","author":"Nicolaides","year":"1990","journal-title":"Biotechniques"},{"key":"key\n\t\t\t\t2019041113550705800_R12","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1093\/nar\/27.2.573","article-title":"Tandem repeats finder: a program to analyze DNA sequences.","volume":"27","author":"Benson","year":"1999","journal-title":"Nucleic Acids Res"},{"key":"key\n\t\t\t\t2019041113550705800_R13","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1086\/449313","article-title":"A novel class of pseudoautosomal region 1 (PAR1) deletions downstream of SHOX is associated with Le\u0301ri-Weill dyschondrosteosis (LWD).","volume":"77","author":"Benito-Sanz","year":"2005","journal-title":"Am J Hum Genet"},{"key":"key\n\t\t\t\t2019041113550705800_R14","doi-asserted-by":"crossref","first-page":"5292","DOI":"10.1074\/jbc.274.9.5292","article-title":"N-linked glycosylation and sialylation of the acid-labile subunit.","volume":"274","author":"Janosi","year":"1999","journal-title":"J Biol Chem"},{"key":"key\n\t\t\t\t2019041113550705800_R15","doi-asserted-by":"crossref","first-page":"2087","DOI":"10.1210\/jc.2006-2553","article-title":"The bone mineral density in childhood study: bone mineral content and density according to age, sex, and race.","volume":"92","author":"Kalkwarf","year":"2007","journal-title":"J Clin Endocrinol Metab"},{"key":"key\n\t\t\t\t2019041113550705800_R16","first-page":"7324","article-title":"Liver derived insuline-like growth factor I (IGF-I) is the principal source of IGF-I in blood but is not required for postnatal growth in mice.","volume":"96","author":"Sjo\u0308gre","year":"1999","journal-title":"Proc Natl Acad Sci USA"},{"key":"key\n\t\t\t\t2019041113550705800_R17","doi-asserted-by":"crossref","first-page":"6868","DOI":"10.1073\/pnas.120172697","article-title":"Inactivation of the acid labile subunit gene in mice results in mild retardation of postnatal growth despite profound disruptions in the circulating insulin-like growth factor system.","volume":"97","author":"Ueki","year":"2000","journal-title":"Proc Natl Acad Sci USA"},{"key":"key\n\t\t\t\t2019041113550705800_R18","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1172\/JCI0215463","article-title":"Circulating levels of IGF-I directly regulate bone growth and density.","volume":"110","author":"Yakar","year":"2002","journal-title":"J Clin Invest"},{"key":"key\n\t\t\t\t2019041113550705800_R19","doi-asserted-by":"crossref","first-page":"1535","DOI":"10.2337\/dc05-1367","article-title":"IGF-binding protein-1 levels are related to insulin-mediated glucose disposal and are a potential serum marker of insulin resistance.","volume":"29","author":"Maddux","year":"2006","journal-title":"Diabetes Care"},{"issue":"Suppl 4","key":"key\n\t\t\t\t2019041113550705800_R20","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1016\/0026-0495(95)90231-7","article-title":"Carbohydrate metabolism in primary growth hormone resistance (Laron syndrome) before and during insulin-like growth factor-I treatment","volume":"44","author":"Laron","year":"1995","journal-title":"Metabolism"},{"key":"key\n\t\t\t\t2019041113550705800_R21","doi-asserted-by":"crossref","first-page":"1110","DOI":"10.2337\/diabetes.50.5.1110","article-title":"Liver-specific IGF-I gene deletion leads to muscle insulin insensitivity.","volume":"50","author":"Yakar","year":"2001","journal-title":"Diabetes"},{"key":"key\n\t\t\t\t2019041113550705800_R22","doi-asserted-by":"crossref","first-page":"483","DOI":"10.2337\/diabetes.52.10.2483","article-title":"Insulin resistance in the liver-specific IGF-I gene-deleted mouse is abrogated by deletion of the acid-labile subunit of the IGF-binding protein-3 complex. Relative roles of growth hormone and IGF-I in insulin resistance.","volume":"52","author":"Haluzik","year":"2003","journal-title":"Diabetes"},{"key":"key\n\t\t\t\t2019041113550705800_R23","doi-asserted-by":"crossref","first-page":"1926","DOI":"10.1101\/gad.908001","article-title":"Functional inactivation of the IGF-I and insulin receptors in skeletal muscle causes type 2 diabetes.","volume":"15","author":"Ferna\u0301ndez","year":"2001","journal-title":"Genes Dev"},{"key":"key\n\t\t\t\t2019041113550705800_R24","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1038\/ng872","article-title":"\u03b2-Cell specific deletion of the Igf1 receptor leads to hyperinsulinemia and glucose intolerance but does not alter \u03b2-cell mass.","volume":"31","author":"Kulkarni","year":"2002","journal-title":"Nat Genet"},{"key":"key\n\t\t\t\t2019041113550705800_R25","doi-asserted-by":"crossref","first-page":"1011","DOI":"10.1172\/JCI0215276","article-title":"Defective insulin secretion in pancreatic \u03b2 cells lacking type 1 IGF receptor.","volume":"110","author":"Xuan","year":"2002","journal-title":"J Clin Invest"},{"issue":"Suppl 5","key":"key\n\t\t\t\t2019041113550705800_R26","first-page":"43","article-title":"Acid-labile subunit deficiency: phenotypic similarities and differences between human and mouse","volume":"28","author":"Domene\u0301","year":"2005","journal-title":"J Endocrinol Invest"},{"issue":"Suppl 1","key":"key\n\t\t\t\t2019041113550705800_R27","first-page":"108","article-title":"A novel mutation of the acid-labile subunit (ALS) in two male siblings is associated with persistent short stature, microcephaly and osteoporosis","volume":"68","author":"Duyvevoorde van","year":"2007","journal-title":"46th Annual Meeting of the ESPE, Helsinki, 2007. Horm Res"},{"key":"key\n\t\t\t\t2019041113550705800_R28","doi-asserted-by":"crossref","first-page":"23328","DOI":"10.1074\/jbc.274.33.23328","article-title":"The acid-labile subunit of the serum insulin-like growth factor-binding protein complexes.","volume":"274","author":"Janosi","year":"1999","journal-title":"J Biol Chem"}],"container-title":["The Journal of Clinical Endocrinology &amp; Metabolism"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/jcem\/article-pdf\/93\/5\/1616\/9056477\/jcem1616.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,8]],"date-time":"2019-05-08T06:31:42Z","timestamp":1557297102000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jcem\/article\/93\/5\/1616\/2598354"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,5,1]]},"references-count":28,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2008,5,1]]}},"URL":"https:\/\/doi.org\/10.1210\/jc.2007-2678","relation":{},"ISSN":["0021-972X","1945-7197"],"issn-type":[{"value":"0021-972X","type":"print"},{"value":"1945-7197","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,5,1]]}}}