Ontology highlight
ABSTRACT:
SUBMITTER: Gomes CP
PROVIDER: S-EPMC7093562 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
Gomes Caio Perez CP Marins Maryana Mara MM Motta Fabiana Louise FL Kyosen Sandra Obikawa SO Curiati Marco Antonio MA D'Almeida Vânia V Martins Ana Maria AM Pesquero João Bosco JB
Frontiers in genetics 20200318
<h4>Rationale</h4>Mucopolysaccharidosis type II (Hunter syndrome) is an X-linked multisystem disorder, caused by deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S). The clinical manifestations of this disease are severe skeletal deformities, airway obstruction, cardiomyopathy, and neurologic deterioration.<h4>Patient</h4>The patient was 5 years and 6 months boy, with developmental delay, hearing loss, hepatosplenomegaly, and skeletal dysplasia. He was diagnosed with mucopolysaccharid ...[more]