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Farber Disease Mimicking Juvenile Idiopathic Arthritis: The First Reported Case in Qatar and Review of the Literature

Farber disease (FD) is an extremely rare autosomal recessive disorder caused by the deficiency of lysosomal acid ceramidase. It is characterized by a triad of progressive multiple joints' involvement, subcutaneous nodules, and hoarseness of voice. In this report, we describe a 23-month-old boy...

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Detalles Bibliográficos
Autores principales: Al-Naimi, Amal, Toma, Haneen, Hamad, Sara G., Ben Omran, Tawfeg
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8853810/
https://www.ncbi.nlm.nih.gov/pubmed/35186337
http://dx.doi.org/10.1155/2022/2555235