Isolated Mild Intellectual Disability Expands the Aminoacylase 1 Phenotype Spectrum-Reference-Cited by-同舟云学术

Isolated Mild Intellectual Disability Expands the Aminoacylase 1 Phenotype Spectrum

Published:2014 Issue: Volume: Page:81-87
ISSN:2192-8304
Container-title:JIMD Reports
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Author:

Alessandrì Maria G.,Casarano Manuela,Pezzini Ilaria,Doccini Stefano,Nesti Claudia,Cioni Giovanni,Battini Roberta

Publisher

Springer Berlin Heidelberg

Link

http://link.springer.com/content/pdf/10.1007/8904_2014_323

Reference25 articles.

1. Chilosi AM, Cipriani P (1996) In: Edizioni del Cerro. TCGB: Test di comprensione grammaticale per bambini. Tirrenia, Pisa

2. Cook RM, Burke BJ, Buchhagen DL, Minna JD, Miller YE (1993) Human aminoacylase-1: cloning, sequence, and expression analysis of a chromosome 3p21 gene inactivated in small cell lung cancer. J Biol Chem 268:17010–17017

3. Dunn LM, Dunn LM. (1997) Peabody picture vocabulary test-PPVT, 3rd edn. Minneapolis (MN). American Guidance Service. Italian adaptation

4. Stella G, Pizzoli C, Tressoldi P (2000) PPVT-revised. Torino: Omega Edition

5. Engelke UF, Sass JO, Van Coster RN et al (2008) NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism. NMR Biomed 21:138–147

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