Article
Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome.
American journal of medical genetics. Part C, Seminars in medical genetics - 1 Sept 2021
Josahkian Juliana Alves, Brusius-Facchin Ana Carolina, Netto Alice Brinckmann Oliveira, Leistner-Segal Sandra, Málaga Diana Rojas, Burin Maira Graeff, Michelin-Tirelli Kristiane, Trapp Franciele Barbosa, Cardoso-Dos-Santos Augusto César, Ribeiro Erlane Marques, Kim Chong Ae, de Siqueira Ana Cecília Menezes, Santos Mara Lucia, do Valle Daniel Almeida, da Silva Raquel Tavares Boy, Horovitz Dafne Dain Gandelman, de Medeiros Paula Frassinetti Vasconcelos, de Souza Carolina Fischinger Moura, Giuliani Liane de Rosso, Miguel Diego Santana Chaves Geraldo, Santana-da-Silva Luiz Carlos, Galera Marcial Francis, Giugliani Roberto
Abstract excerpt
Mucopolysaccharidosis type II (MPS II) is an X-linked inherited disease caused by pathogenic variants in the IDS gene, leading to deficiency of the lysosomal enzyme iduronate-2-sulfatase and consequent widespread storage of glycosaminoglycans, leading to several clinical consequences, with progressive manifestations which most times includes cognitive decline. MPS II has wide allelic and clinical heterogeneity...
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