Publications:

In Vitro and In Vivo Amenability to Migalastat in Fabry Disease.

Molecular Therapy. Methods & Clinical Development

Lenders, Malte M; Stappers, Franciska F; Brand, Eva E

Publication Date: 2020-12-11

Variant appearance in text: GLA: P343L

PubMed Link: 32995357

Variant Present in the following documents:

• Main text
• main.pdf

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: GLA: P343L

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Hypertrophic cardiomyopathy in a lupus patient: a case of hydroxychloroquine cardiotoxicity.

Esc Heart Failure

Chang, Amanda A; Stolin, Gabriel G; Fan, Judith J; Larreta, Boris R BR; Fishbein, Gregory A GA; Wallace, William Dean WD; Baas, Arnold S AS; Cruz, Daniel D; Wang, Jessica J

Publication Date: 2019-12

Variant appearance in text: GLA: Pro343Leu

PubMed Link: 31493341

Variant Present in the following documents:

• Main text
• EHF2-6-1326.pdf

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Heart failure in a woman with SLE, anti-phospholipid syndrome and Fabry's disease.

Lupus

Nandagudi, A A; Jury, E C EC; Alonzi, D D; Butters, T D TD; Hughes, S S; Isenberg, D A DA

Publication Date: 2013-09

Variant appearance in text: GLA: P343L

PubMed Link: 23864039

Variant Present in the following documents:

• Main text
• 10.1177-0961203313497116.pdf

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