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Gene symbol: GLB1. Disease: GM1 gangliosidosis infantile.
Drousiotou A, Georgiou T, Drousiotou A, Campos Y, Caciotti A, Sztriha L, Gururaj A, Ozand P, Zammarchi E, Morrone A, d Azzo A. Drousiotou A, et al. Hum Genet. 2005 May;116(6):534. Hum Genet. 2005. PMID: 15988828 No abstract available.
Gene symbol: GLB1. Disease: GM1 gangliosidosis infantile.
Drousiotou A, Georgiou T, Drousiotou A, Campos Y, Caciotti A, Sztriha L, Gururaj A, Ozand P, Zammarchi E, Morrone A, d Azzo A. Drousiotou A, et al. Hum Genet. 2005 May;116(6):542. Hum Genet. 2005. PMID: 15991326 No abstract available.
Gene symbol: GLB1. Disease: GM1 gangliosidosis infantile.
Drousiotou A, Georgiou T, Drousiotou A, Campos Y, Caciotti A, Sztriha L, Gururaj A, Ozand P, Zammarchi E, Morrone A, d Azzo A. Drousiotou A, et al. Hum Genet. 2005 May;116(6):542. Hum Genet. 2005. PMID: 15991327 No abstract available.
GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing.
Malekkou A, Theodosiou A, Alexandrou A, Papaevripidou I, Sismani C, Jacobs EH, Ruijter GJG, Anastasiadou V, Ourani S, Athanasiou E, Drousiotou A, Grafakou O, Petrou PP. Malekkou A, et al. Among authors: drousiotou a. Mol Genet Metab Rep. 2023 Aug 7;36:100997. doi: 10.1016/j.ymgmr.2023.100997. eCollection 2023 Sep. Mol Genet Metab Rep. 2023. PMID: 37600231 Free PMC article.
45 results