| 1 | ALSD, IGFALS
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| Three novel IGFALS gene mutations resulting in total ALS and severe circulating IGF-I/IGFBP-3 deficiency in children of different ethnic origins.
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| Fofanova-Gambetti OV, Hwa V, Kirsch S, Pihoker C, Chiu HK, Högler W, Cohen LE, Jacobsen C, Derr MA, Rosenfeld RG.
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| Horm Res 71(2):100-10. Epub 2009 Jan 8.PMID: 19129715 2009
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| 2 | ALSD, IGFALS
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| Human acid-labile subunit deficiency: clinical, endocrine and metabolic consequences.
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| Domené HM, Hwa V, Argente J, Wit JM, Camacho-Hübner C, Jasper HG, Pozo J, van Duyvenvoorde HA, Yakar S, Fofanova-Gambetti OV, Rosenfeld RG; International ALS Collaborative Group.
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| Horm Res 72(3):129-41. Epub 2009 Sep 1. Review.PMID: 19729943 2009
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| 3 | ALSD, IGFALS
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| Homozygous and heterozygous expression of a novel mutation of the acid-labile subunit.
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| van Duyvenvoorde HA, Kempers MJ, Twickler TB, van Doorn J, Gerver WJ, Noordam C, Losekoot M, Karperien M, Wit JM, Hermus AR.
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| Eur J Endocrinol 159(2):113-20. Epub 2008 May 7.PMID: 18463107 2008
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| 4 | ALSD, IGFALS
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| Phenotypic effects of null and haploinsufficiency of acid-labile subunit in a family with two novel IGFALS gene mutations.
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| Domené HM, Scaglia PA, Lteif A, Mahmud FH, Kirmani S, Frystyk J, Bedecarrás P, Gutiérrez M, Jasper HG.
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| J Clin Endocrinol Metab 92(11):4444-50. Epub 2007 Aug 28.PMID: 17726072 2007
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