Triosephosphate Isomerase Deficiency: E105D Mutation in Unrelated Patients and Review of the Literature

INTRODUCTION: Chronic haemolytic anaemia, increased susceptibility to infections, cardiomyopathy, neurodegeneration, and death in early childhood are the clinical findings of triosephosphate isomerase (TPI) deficiency, which is an ultra-rare disorder. The clinical and laboratory findings and the out...

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Detalles Bibliográficos
Autores principales: Selamioğlu, Arzu, Karaca, Meryem, Balcı, Mehmet Cihan, Körbeyli, Hüseyin Kutay, Durmuş, Aslı, Yıldız, Edibe Pembegül, Karaman, Serap, Gökçay, Gülden Fatma
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2023
Materias:
Novel Insights from Clinical Practice
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10267495/
https://www.ncbi.nlm.nih.gov/pubmed/37323194
http://dx.doi.org/10.1159/000528192

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10267495/
https://www.ncbi.nlm.nih.gov/pubmed/37323194
http://dx.doi.org/10.1159/000528192

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