Literature DB >> 15690354

Homozygosity for a non-pseudogene complex glucocerebrosidase allele as cause of an atypical neuronopathic form of Gaucher disease.

Mirella Filocamo, Serena Grossi, Marina Stroppiano, Paolo Tortori-Donati, Stefano Regis, Anna Allegri, Maja Di Rocco.   

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Year:  2005        PMID： 15690354     DOI： 10.1002/ajmg.a.30316

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  3 in total

1.  Probability of high-risk genetic matching with oocyte and semen donors: complete gene analysis or genotyping test?

Authors:  Marta Molina Romero; Alberto Yoldi Chaure; Miguel Gañán Parra; Purificación Navas Bastida; José Luis Del Pico Sánchez; Ángel Vaquero Argüelles; Paloma de la Fuente Vaquero; Juan Pablo Ramírez López; José Antonio Castilla Alcalá
Journal:  J Assist Reprod Genet       Date:  2022-01-29       Impact factor: 3.412

2.  Gaucher disease in North Macedonia: Unexpected prevalence of the N370S GBA1 allele with attenuated disease expression.

Authors:  Nevenka Ridova; Sanja Trajkova; Biljana Chonevska; Zlate Stojanoski; Martin Ivanovski; Marija Popova-Labachevska; Simona Stojanovska-Jakimovska; Venko Filipche; Aspazija Sofijanova; Irina Panovska-Stavridis
Journal:  Mol Genet Metab Rep       Date:  2022-07-08

3.  Cell surface associated glycohydrolases in normal and Gaucher disease fibroblasts.

Authors:  Massimo Aureli; Rosaria Bassi; Nicoletta Loberto; Stefano Regis; Alessandro Prinetti; Vanna Chigorno; Johannes M Aerts; Rolf G Boot; Mirella Filocamo; Sandro Sonnino
Journal:  J Inherit Metab Dis       Date:  2012-04-19       Impact factor: 4.982
  3 in total

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