This site needs JavaScript to work properly. Please enable it to take advantage of the complete set of features!

Skip to main page content

Email citation

Add to Collections

Your saved search

Name of saved search:

Search terms:

Test search terms

Would you like email updates of new search results?

Yes
No

Email: (change)

Frequency:

Which day?

Which day?

Report format:

Send at most:

Send even when there aren't any new results

Optional text in email:

Your RSS Feed

Case Reports

. 2019 Jul;72(7):585-587.

doi: 10.1016/j.rec.2018.06.013. Epub 2018 Jul 18.

First Reported Case of Fabry Disease Caused by a Somatic Mosaicism in the GLA Gene

[Article in English, Spanish]

Roberto Barriales-Villa¹, Juan Pablo Ochoa², José Luis Santomé-Collazo², Juan Mosquera-Reboredo³, Mercedes Cao-Vilariño⁴, Lorenzo Monserrat²

Affiliations

Affiliations

¹ Unidad de Cardiopatías Familiares, Servicio de Cardiología, Complexo Hospitalario Universitario A Coruña, Servizo Galego de Saúde (SERGAS), Universidade da Coruña, A Coruña, Spain; Instituto de Investigación Biomédica de A Coruña (INIBIC), A Coruña, Spain. Electronic address: rbarrialesv@gmail.com.
² Instituto de Investigación Biomédica de A Coruña (INIBIC), A Coruña, Spain; Departamento Científico, Health in Code S.L., A Coruña, Spain.
³ Instituto de Investigación Biomédica de A Coruña (INIBIC), A Coruña, Spain; Servicio de Anatomía Patológica, Complexo Hospitalario Universitario A Coruña, Servizo Galego de Saúde (SERGAS), Universidade da Coruña, A Coruña, Spain.
⁴ Servicio de Anatomía Patológica, Complexo Hospitalario Universitario A Coruña, Servizo Galego de Saúde (SERGAS), Universidade da Coruña, A Coruña, Spain; Servicio de Nefrología, Complexo Hospitalario Universitario A Coruña, Servizo Galego de Saúde (SERGAS), Universidade da Coruña, A Coruña, Spain.

PMID: 30029973
DOI: 10.1016/j.rec.2018.06.013

Case Reports

First Reported Case of Fabry Disease Caused by a Somatic Mosaicism in the GLA Gene

[Article in English, Spanish]

Roberto Barriales-Villa et al. Rev Esp Cardiol (Engl Ed). 2019 Jul.

. 2019 Jul;72(7):585-587.

doi: 10.1016/j.rec.2018.06.013. Epub 2018 Jul 18.

Authors

Roberto Barriales-Villa¹, Juan Pablo Ochoa², José Luis Santomé-Collazo², Juan Mosquera-Reboredo³, Mercedes Cao-Vilariño⁴, Lorenzo Monserrat²

Affiliations

¹ Unidad de Cardiopatías Familiares, Servicio de Cardiología, Complexo Hospitalario Universitario A Coruña, Servizo Galego de Saúde (SERGAS), Universidade da Coruña, A Coruña, Spain; Instituto de Investigación Biomédica de A Coruña (INIBIC), A Coruña, Spain. Electronic address: rbarrialesv@gmail.com.
² Instituto de Investigación Biomédica de A Coruña (INIBIC), A Coruña, Spain; Departamento Científico, Health in Code S.L., A Coruña, Spain.
³ Instituto de Investigación Biomédica de A Coruña (INIBIC), A Coruña, Spain; Servicio de Anatomía Patológica, Complexo Hospitalario Universitario A Coruña, Servizo Galego de Saúde (SERGAS), Universidade da Coruña, A Coruña, Spain.
⁴ Servicio de Anatomía Patológica, Complexo Hospitalario Universitario A Coruña, Servizo Galego de Saúde (SERGAS), Universidade da Coruña, A Coruña, Spain; Servicio de Nefrología, Complexo Hospitalario Universitario A Coruña, Servizo Galego de Saúde (SERGAS), Universidade da Coruña, A Coruña, Spain.

PMID: 30029973
DOI: 10.1016/j.rec.2018.06.013

No abstract available

PubMed Disclaimer

Similar articles

The p.Arg118Cys Variant in the GLA Gene Does Not Cause Fabry Disease. More Evidence.
Barbeito-Caamaño C, Cao-Vilariño M, Mosquera-Reboredo J, García-Pavía P, Monserrat-Iglesias L, Barriales-Villa R. Barbeito-Caamaño C, et al. Rev Esp Cardiol (Engl Ed). 2018 Oct;71(10):871-873. doi: 10.1016/j.rec.2017.08.007. Epub 2017 Sep 21. Rev Esp Cardiol (Engl Ed). 2018. PMID: 28941980 English, Spanish. No abstract available.
A novel small insertion mutation, C.1030_1031ins (T) in α-galactosidase A leads to renal variant fabry disease.
Choi JS, Kim CS, Park JW, Bae EH, Ma SK, Choi YD, Kim GH, Yoo HW, Kim SW. Choi JS, et al. Ren Fail. 2012;34(3):390-3. doi: 10.3109/0886022X.2011.647300. Epub 2012 Jan 20. Ren Fail. 2012. PMID: 22260214
A predominant cardiac phenotype of Anderson-Fabry disease in presence of a MYBPC3 gene mutation and a LAMA4 gene mutation.
Laenens D, Koopman P, Cools T. Laenens D, et al. Acta Cardiol. 2019 Feb;74(1):84-85. doi: 10.1080/00015385.2018.1433458. Epub 2018 Feb 7. Acta Cardiol. 2019. PMID: 29415625 No abstract available.
Anderson-Fabry disease.
Di Toro A, Favalli V, Arbustini E. Di Toro A, et al. J Cardiovasc Med (Hagerstown). 2018 Feb;19 Suppl 1:e1-e5. doi: 10.2459/JCM.0000000000000637. J Cardiovasc Med (Hagerstown). 2018. PMID: 29538136 Review. No abstract available.
Alpha-galactosidase A in vascular disease.
Bodary PF, Shayman JA, Eitzman DT. Bodary PF, et al. Trends Cardiovasc Med. 2007 May;17(4):129-33. doi: 10.1016/j.tcm.2007.02.006. Trends Cardiovasc Med. 2007. PMID: 17482095 Review.

See all similar articles

Cited by

Detection of Mosaic Variants in Mothers of MPS II Patients by Next Generation Sequencing.
Oliveira Netto AB, Brusius-Facchin AC, Leistner-Segal S, Kubaski F, Josahkian J, Giugliani R. Oliveira Netto AB, et al. Front Mol Biosci. 2021 Nov 5;8:789350. doi: 10.3389/fmolb.2021.789350. eCollection 2021. Front Mol Biosci. 2021. PMID: 34805285 Free PMC article.

Publication types

Actions

MeSH terms

Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions
Actions

Substances

Actions
Actions
Actions

LinkOut - more resources

Full Text Sources
- Ediciones Doyma, S.L.
- Elsevier Science
Other Literature Sources
- scite Smart Citations
Medical
- Genetic Alliance