ENFERMEDAD DE LESCH NYHAN PDF

A number sign (#) is used with this entry because Lesch-Nyhan syndrome is caused by mutation in the HPRT gene (), encoding hypoxanthine guanine. Maladie de Lesch-Nyhan. Deutsch: Lesch-Nyhan- Sindrome de Lesch-Nyhan – Enfermedad por Deficiencia de Hipoxantina-Fosforribosil-Transferasa. Lesch-Nyhan syndrome is a condition that occurs almost exclusively in males. It is characterized by neurological and behavioral abnormalities and the.

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The journal fully endorses the goals of updating knowledge and facilitating the acquisition of key developments in internal medicine applied to clinical practice.

Nine issues are published each year, including mostly originals, reviews and consensus documents. The Impact Factor measures the average number of citations received in a particular year by papers published in the journal during the two receding years.

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CiteScore measures average citations received per document published. SRJ is a prestige metric based on the idea that not all citations are the same. SJR uses a similar algorithm as the Google nnyhan rank; it provides a quantitative and qualitative measure of the journal’s impact.

Síndrome de Lesch-Nyhan | Sunrise Health

SNIP measures contextual citation impact by wighting citations based on the total number of citations in a subject field. Previous article Next article. October Pages ee78 Pages This item has received. Mutation in original proband.

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Síndrome de Lesch-Nyhan | The Neurohealth Sciences Center

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