Mucolipidosis Type III: A Hidden Challenge in the Differential Diagnosis of Rheumatological Disorders
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Objective: Mucolipidosis type III (ML-III) alpha/beta and gamma are uncommon lysosomal storage diseases caused by a partial deficiency of the N-acetylglucosaminyl-1-phosphotransferase enzyme. Biallelic mutations in the GNPTAB gen... ...
