Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood

BACKGROUND: Lysinuric protein intolerance (LPI) is a rare metabolic disease resulting from recessive-inherited mutations in the SLC7A7 gene encoding the cationic amino-acids transporter subunit y(+)LAT1. The disease is characterised by protein-rich food intolerance with secondary urea cycle disorder...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Principais autores: Mauhin, Wladimir, Habarou, Florence, Gobin, Stéphanie, Servais, Aude, Brassier, Anaïs, Grisel, Coraline, Roda, Célina, Pinto, Graziella, Moshous, Despina, Ghalim, Fahd, Krug, Pauline, Deltour, Nelly, Pontoizeau, Clément, Dubois, Sandrine, Assoun, Murielle, Galmiche, Louise, Bonnefont, Jean-Paul, Ottolenghi, Chris, de Blic, Jacques, Arnoux, Jean-Baptiste, de Lonlay, Pascale
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2017
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5217205/
https://ncbi.nlm.nih.gov/pubmed/28057010
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-016-0550-8
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