PMC Links for Nucleotide (Select 161086965) - PMC

Select item 69905331.

Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients

Patrícia Varela, Gianna Mastroianni Kirsztajn, Fabiana L. Motta, Renan P. Martin, Lauro T. Turaça, Henrique L. F. Ferrer, Caio P. Gomes, Priscila Nicolicht, Maryana Mara Marins, Juliana G. Pessoa, Marion C. Braga, Vânia D’Almeida, Ana Maria Martins, João B. Pesquero

Orphanet J Rare Dis. 2020; 15: 30. Published online 2020 Jan 29. doi: 10.1186/s13023-019-1274-3

PMCID:: PMC6990533

Article PDF–687K

Select item 68258442.

Renal globotriaosylceramide deposits for Fabry disease linked to uncertain pathogenicity gene variant c.352C>T/p.Arg118Cys: A family study

Magdalena Cerón‐Rodríguez, Guillermo Ramón‐García, Edgar Barajas‐Colón, Isidro Franco‐Álvarez, Juan L. Salgado‐Loza

Mol Genet Genomic Med. 2019 Nov; 7(11): e981. Published online 2019 Sep 30. doi: 10.1002/mgg3.981

PMCID:: PMC6825844

Article PDF–1.9M

Select item 67776373.

Novel GLA Mutation Promotes Intron Inclusion Leading to Fabry Disease

Patrícia Varela, Myrtes Martins Caldas, João Bosco Pesquero

Front Genet. 2019; 10: 783. Published online 2019 Sep 27. doi: 10.3389/fgene.2019.00783

PMCID:: PMC6777637

Article PDF–1.1M

Select item 67323434.

Functional evaluation of a novel GLA causative mutation in Fabry disease

Ping Li, Lijuan Zhang, Qiuhong Xiong, Zhe Wang, Xiaodong Cui, Yong‐An Zhou, Yuxian Wang, Han Xiao, Changxin Wu

Mol Genet Genomic Med. 2019 Sep; 7(9): e864. Published online 2019 Jul 18. doi: 10.1002/mgg3.864

PMCID:: PMC6732343

Article PDF–1.0M

Select item 66251405.

Fabry pedigree analysis: A successful program for targeted genetic approach

Paula A. Rozenfeld, Francisca M. Masllorens, Norma Roa, Fernanda Rodriguez, Mariela Bonnano, Carolina Yvorra, Romina Ceci

Mol Genet Genomic Med. 2019 Jul; 7(7): e00794. Published online 2019 Jun 6. doi: 10.1002/mgg3.794

PMCID:: PMC6625140

Article PDF–226K

Select item 55200626.

Clinical utility gene card for: Fabry disease – update 2016

Andreas Gal, Michael Beck, Wolfgang Höppner, Dominique P Germain

Eur J Hum Genet. 2017 Jul; 25(7): e1–e3. Published online 2017 Mar 22. doi: 10.1038/ejhg.2017.17

PMCID:: PMC5520062

Article PDF–107K

Select item 52745087.

Screening of Fabry disease in patients with end-stage renal disease of unknown etiology: the first Thailand study

Objoon Trachoo, Paisan Jittorntam, Sarunpong Pibalyart, Saowanee Kajanachumphol, Norasak Suvachittanont, Suthep Patputthipong, Piyatida Chuengsaman, Arkom Nongnuch

J Biomed Res. 2017 Jan; 31(1): 17–24. Published online 2016 Sep 29. doi: 10.7555/JBR.31.20160063

PMCID:: PMC5274508

Article PDF–217K

Select item 49992768.

Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease

Xiaoxia Pan, Yan Ouyang, Zhaohui Wang, Hong Ren, Pingyan Shen, Weiming Wang, Yaowen Xu, Liyan Ni, Xialian Yu, Xiaonong Chen, Wen Zhang, Li Yang, Xiao Li, Jing Xu, Nan Chen

PLoS One. 2016; 11(8): e0161330. Published online 2016 Aug 25. doi: 10.1371/journal.pone.0161330

PMCID:: PMC4999276

Article PDF–734K

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