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Journal Abstract Search

154 related items for PubMed ID: 30445145

  • 1. Infantile sialidosis: natural history in a preterm infant with two new pathogenic mutations and new ocular findings.
    Pérez-Cabeza MI, Borrás F, Moreno-Medinilla EE, Bardán-Rebollar D, Ferrer-López I, Rodríguez-García E, Jiménez-Machado R, Castro-Vega I, Benito C, Escudero J, Yahyaoui R.
    J AAPOS; 2019 Apr; 23(2):102-104. PubMed ID: 30445145
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  • 4. Sialidosis Type 1 with a Novel Mutation in the Neuraminidase-1 (NEU1) Gene.
    Gowda VK, Srinivasan VM, Benakappa N, Benakappa A.
    Indian J Pediatr; 2017 May; 84(5):403-404. PubMed ID: 28138907
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  • 5. In silico identification of new putative pathogenic variants in the NEU1 sialidase gene affecting enzyme function and subcellular localization.
    Bonardi D, Ravasio V, Borsani G, d'Azzo A, Bresciani R, Monti E, Giacopuzzi E.
    PLoS One; 2014 May; 9(8):e104229. PubMed ID: 25153125
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  • 13. Splice donor site mutation in the lysosomal neuraminidase gene causing exon skipping and complete loss of enzyme activity in a sialidosis patient.
    Penzel R, Uhl J, Kopitz J, Beck M, Otto HF, Cantz M.
    FEBS Lett; 2001 Jul 20; 501(2-3):135-8. PubMed ID: 11470272
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