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  1. Article: A Broad Characterization of Glycogen Storage Disease IV Patients: A Clinical, Genetic, and Histopathological Study.

    Wilke, Matheus Vernet Machado Bressan / de Oliveira, Bibiana Mello / Starosta, Rodrigo Tzovenos / Shinawi, Marwan / Lu, Liang / He, Mai / Ma, Yamin / Stoll, Janis / de Souza, Carolina Fischinger Moura / de Siqueira, Ana Cecilia Menezes / Vieira, Sandra Maria Gonçalves / Cerski, Carlos Thadeu / Refosco, Lilia Farret / Schwartz, Ida Vanessa Doederlein

    Biomedicines

    2023  Volume 11, Issue 2

    Abstract: Glycogen storage disease type IV (GSD IV) is an ultra-rare autosomal recessive disease caused by variants in ... ...

    Abstract Glycogen storage disease type IV (GSD IV) is an ultra-rare autosomal recessive disease caused by variants in the
    Language English
    Publishing date 2023-01-26
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2720867-9
    ISSN 2227-9059
    ISSN 2227-9059
    DOI 10.3390/biomedicines11020363
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Genotype-phenotype studies in a large cohort of Brazilian patients with Hunter syndrome.

    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

    American journal of medical genetics. Part C, Seminars in medical genetics

    2021  Volume 187, Issue 3, Page(s) 349–356

    Abstract: 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 ...

    Abstract 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 and a complex genotype-phenotype correlation. We evaluated data from 501 Brazilian patients diagnosed with MPS II from 1982 to 2020. We genotyped 280 of these patients (55.9%), which were assigned to 206 different families. Point mutations were present in 70% of our patients, being missense variants the most frequent. We correlated the IDS pathogenic variants identified with the phenotype (neuronophatic or non-neuronopathic). Except for two half-brothers, there was no discordance in the genotype-phenotype correlation among family members, nor among MPS II patients from different families with the same single base-pair substitution variant. Mothers were carriers in 82.0% of the cases. This comprehensive study of the molecular profile of the MPS II cases in Brazil sheds light on the genotype-phenotype correlation and helps the better understanding of the disease and the prediction of its clinical course, enabling the provision of a more refined genetic counseling to the affected families.
    MeSH term(s) Brazil ; Genotype ; Humans ; Male ; Mucopolysaccharidosis II/genetics ; Mutation ; Phenotype
    Language English
    Publishing date 2021-05-07
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2108622-9
    ISSN 1552-4876 ; 0148-7299 ; 1552-4868
    ISSN (online) 1552-4876
    ISSN 0148-7299 ; 1552-4868
    DOI 10.1002/ajmg.c.31915
    Database MEDical Literature Analysis and Retrieval System OnLINE

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