Search Results - "de Araújo Leão, Emilia Katiane Embiruçu"
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Mucopolysaccharidosis VII in Brazil: natural history and clinical findings
Published in Orphanet journal of rare diseases (22-05-2021)“…Abstract Background Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, caused by deficiency of the lysosomal enzyme β-glucuronidase, is an…”
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Detection and sequencing of Zika virus in normocephalic newborns with congenital Zika infection
Published in International journal of infectious diseases (01-01-2022)“…•This series details 14 asymptomatic normocephalic newborns with confirmed congenital Zika infection.•All newborns presented Zika virus (ZIKV) positivity by…”
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Alternative laronidase dose regimen for patients with mucopolysaccharidosis i
Published in Molecular genetics and metabolism (01-02-2016)Get full text
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Hearing Loss in Mucopolysaccharidosis
Published in International Archives of Otorhinolaryngology (01-07-2021)“…Abstract Introduction Mucopolysaccharidosis (MPS) is a set of rare diseases caused by deficiency of lysosomal enzymes that lead to the accumulation of…”
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Alternative laronidase dose regimen for patients with mucopolysaccharidosis I: a multinational, retrospective, chart review case series
Published in Orphanet journal of rare diseases (29-04-2016)“…Enzyme replacement therapy (ERT) with laronidase (recombinant human α-L-iduronidase, Aldurazyme®) is indicated for non-neurological signs and symptoms of…”
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Disease duration and survival in Brazilian Niemann-Pick disease type C patients: Preliminary data on potential impact of miglustat
Published in Molecular genetics and metabolism (01-02-2016)Get full text
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