نتایج جستجو برای: i mucopolysaccharidosis i

تعداد نتایج: 1040570  

Journal: :Journal of inborn errors of metabolism and screening 2023

Mucopolysaccharidosis (MPS) is a group of metabolic disorders caused by the deficiency or complete absence certain lysosomal enzymes responsible for breakdown mucopolysaccharides, causing an accumulation glycosaminoglycans (GAGs) throughout body. type I (MPS I), also called Hurler syndrome, autosomal recessive storage disorder resulting from enzyme α-L-iduronidase. This report aims to present c...

Journal: :Brazilian journal of otorhinolaryngology 2016
Ana Paula Fiuza Funicello Dualibi Ana Maria Martins Gustavo Antônio Moreira Marisa Frasson de Azevedo Reginaldo Raimundo Fujita Shirley Shizue Nagata Pignatari

INTRODUCTION Mucopolysaccharidosis (MPS) is a lysosomal storage disease caused by deficiency of α-l-iduronidase. The otolaryngological findings include hearing loss, otorrhea, recurrent otitis, hypertrophy of tonsils and adenoid, recurrent rhinosinusitis, speech disorders, snoring, oral breathing and nasal obstruction. OBJECTIVE To evaluate the impact of enzymatic replacement therapy with lar...

Journal: :Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) 2016

Journal: :International Journal of Experimental Pathology 2013

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