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Literature DB >> 16906475

Dramatic reduction in self-injury in Lesch-Nyhan disease following S-adenosylmethionine administration.

Abstract

A man with Lesch-Nyhan disease (LND; OMIM 300322) experienced significantly reduced self-injury and improved comfort while receiving S-adenosylmethionine.

Entities: Chemical Disease Species

Mesh：

Substances：
S-Adenosylmethionine

Year: 2006 PMID： 16906475 DOI： 10.1007/s10545-006-0229-8

Source DB: PubMed Journal: J Inherit Metab Dis ISSN： 0141-8955 Impact factor: 4.982

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Cited

12 in total

Review 1. Lesch-Nyhan Syndrome: Models, Theories, and Therapies.

Authors: Scott Bell; Ilaria Kolobova; Liam Crapper; Carl Ernst
Journal: Mol Syndromol Date: 2016-09-24

Review 2. PRPS1 mutations: four distinct syndromes and potential treatment.

Authors: Arjan P M de Brouwer; Hans van Bokhoven; Sander B Nabuurs; Willem Frans Arts; John Christodoulou; John Duley
Journal: Am J Hum Genet Date: 2010-04-09 Impact factor: 11.025

3. Rescuing compounds for Lesch-Nyhan disease identified using stem cell-based phenotypic screening.

Authors: Valentin Ruillier; Johana Tournois; Claire Boissart; Marie Lasbareilles; Gurvan Mahé; Laure Chatrousse; Michel Cailleret; Marc Peschanski; Alexandra Benchoua
Journal: JCI Insight Date: 2020-02-27

4. Arts syndrome is caused by loss-of-function mutations in PRPS1.

Authors: Arjan P M de Brouwer; Kelly L Williams; John A Duley; André B P van Kuilenburg; Sander B Nabuurs; Michael Egmont-Petersen; Dorien Lugtenberg; Lida Zoetekouw; Martijn J G Banning; Melissa Roeffen; Ben C J Hamel; Linda Weaving; Robert A Ouvrier; Jennifer A Donald; Ron A Wevers; John Christodoulou; Hans van Bokhoven
Journal: Am J Hum Genet Date: 2007-08-03 Impact factor: 11.025

Dramatic reduction in self-injury in Lesch-Nyhan disease following S-adenosylmethionine administration.

Review 1. Lesch-Nyhan Syndrome: Models, Theories, and Therapies.

Review 2. PRPS1 mutations: four distinct syndromes and potential treatment.

3. Rescuing compounds for Lesch-Nyhan disease identified using stem cell-based phenotypic screening.

4. Arts syndrome is caused by loss-of-function mutations in PRPS1.

5. The Effect of S-Adenosylmethionine on Self-Mutilation in a Patient with Lesch-Nyhan Disease.

6. Inborn errors of purine metabolism: clinical update and therapies.

Review 7. Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy.

Review 8. Autism genetics: opportunities and challenges for clinical translation.

Review 9. Nucleotide salvage deficiencies, DNA damage and neurodegeneration.

Review 10. Association of PRPS1 Mutations with Disease Phenotypes.