Lesch-Nyhan syndrome: a novel complex mutation with severe phenotype. | Clin Genet;78(3): 296-7, 2010 Sep. | MEDLINE

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Latin-American Center for Perinatology, Woman and Reproductive Health

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Lesch-Nyhan syndrome: a novel complex mutation with severe phenotype.

Gucev, Z; Koceva, S; Marinaki, A; Fairbanks, L; Kirovski, I; Tasic, V.

Clin Genet ; 78(3): 296-7, 2010 Sep.

Article in En | MEDLINE | ID: mdl-20695874

Subject(s)

Hypoxanthine Phosphoribosyltransferase/genetics; Lesch-Nyhan Syndrome/genetics; Mutation; Allopurinol/therapeutic use; Antimetabolites/therapeutic use; Fatal Outcome; Humans; Hypoxanthine Phosphoribosyltransferase/deficiency; Infant; Lesch-Nyhan Syndrome/drug therapy; Lesch-Nyhan Syndrome/enzymology; Male; Phenotype; Uric Acid/blood

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Hypoxanthine Phosphoribosyltransferase / Lesch-Nyhan Syndrome / Mutation Limits: Humans / Infant / Male Language: En Journal: Clin Genet Year: 2010 Type: Article

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Hypoxanthine Phosphoribosyltransferase / Lesch-Nyhan Syndrome / Mutation Limits: Humans / Infant / Male Language: En Journal: Clin Genet Year: 2010 Type: Article