Initial presentation, management and follow-up data of 33 treated patients with hereditary tyrosinemia type 1 in the absence of newborn screening

Hereditary tyrosinemia type 1 (HT1) is a rare autosomal recessive disorder of phenylalanine and tyrosine catabolism due to a deficiency of fumarylacetoacetate hydrolase. HT1 has a large clinical spectrum with acute forms presenting before six months of age, subacute forms with initial symptoms occur...

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Detalles Bibliográficos
Autores principales: Hajji, Hela, Imbard, Apolline, Spraul, Anne, Taibi, Ludmia, Barbier, Valérie, Habes, Dalila, Brassier, Anaïs, Arnoux, Jean-Baptiste, Bouchereau, Juliette, Pichard, Samia, Sissaoui, Samira, Lacaille, Florence, Girard, Muriel, Debray, Dominique, de Lonlay, Pascale, Schiff, Manuel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9649935/
https://www.ncbi.nlm.nih.gov/pubmed/36393896
http://dx.doi.org/10.1016/j.ymgmr.2022.100933

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