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Volume 2 (2007) - December 2007

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Case Report   Open Access

Alstrom syndrome (OMIM 203800): a case report and literature review

Tisha Joy, Henian Cao, Graeme Black, Rayaz Malik, Valentine Charlton-Menys, Robert A Hegele, Paul N Durrington Orphanet Journal of Rare Diseases 2007, 2:49 (21 December 2007)

Abstract | Full text | PDF | PubMed

Review   Open Access Highly Accessed

Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome

Rosa J Torres, Juan G Puig Orphanet Journal of Rare Diseases 2007, 2:48 (8 December 2007)

Abstract | Full text | PDF | PubMed


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