Type 2 Sialidosis: A Rare Autosomal Recessive Condition in a 13‐Year‐Old Male: A Case Report

ABSTRACT This report presents a 13‐year‐old male with abnormal body movements, generalized body weakness, and developmental regression who was further evaluated to conclude type 2 Sialidosis as the diagnosis. Genetic testing is key in diagnosing such rare conditions, and management is difficult, par...

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Manylion Llyfryddiaeth

Prif Awduron:	Kundan Kumar Yadav, Milan Pokhrel, Geeta Bashyal, Shankar Pokharel, Santoshi Pokharel Kunwar
Fformat:	Artigo
Iaith:	Inglês
Cyhoeddwyd:	Wiley 2025-03-01
Cyfres:	Clinical Case Reports
Pynciau:	autosomal recessive case report mucolipidosis pediatrics Sialidosis
Mynediad Ar-lein:	https://doi.org/10.1002/ccr3.70331
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