Literature DB >> 24878500

Reply: Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease.

Marjo S van der Knaap1, Sietske H Kevelam2.   

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Year:  2014        PMID： 24878500     DOI： 10.1093/brain/awu130

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


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  3 in total

1.  Biotin-Thiamine Responsive Encephalopathy: Report of an Egyptian Family with a Novel SLC19A3 Mutation and Review of the Literature.

Authors:  Salvatore Savasta; Francesco Bassanese; Chiara Buschini; Thomas Foiadelli; Chiara Trabatti; Stephanie Efthymiou; Vincenzo Salpietro; Henry Houlden; Annamaria Simoncelli; Gian Luigi Marseglia
Journal:  J Pediatr Genet       Date:  2018-12-18

2.  Early treatment of biotin-thiamine-responsive basal ganglia disease improves the prognosis.

Authors:  Dorota Wesół-Kucharska; Milena Greczan; Magdalena Kaczor; Magdalena Pajdowska; Dorota Piekutowska-Abramczuk; Elżbieta Ciara; Paulina Halat-Wolska; Paweł Kowalski; Elżbieta Jurkiewicz; Dariusz Rokicki
Journal:  Mol Genet Metab Rep       Date:  2021-09-29

3.  Next-generation sequencing of Tunisian Leigh syndrome patients reveals novel variations: impact for diagnosis and treatment.

Authors:  Meriem Hechmi; Majida Charif; Ichraf Kraoua; Meriem Fassatoui; Hamza Dallali; Valerie Desquiret-Dumas; Céline Bris; David Goudenège; Cyrine Drissi; Saïd Galaï; Slah Ouerhani; Vincent Procaccio; Patrizia Amati-Bonneau; Sonia Abdelhak; Ilhem Ben Youssef-Turki; Guy Lenaers; Rym Kefi
Journal:  Biosci Rep       Date:  2022-09-30       Impact factor: 3.976
  3 in total

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