Publications:

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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: I198T

PubMed Link: 32995357

Variant Present in the following documents:

• Main text
• main.pdf

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A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders.

International Journal Of Neonatal Screening

Sanders, Karen A KA; Gavrilov, Dimitar K DK; Oglesbee, Devin D; Raymond, Kimiyo M KM; Tortorelli, Silvia S; Hopwood, John J JJ; Lorey, Fred F; Majumdar, Ramanath R; Kroll, Charles A CA; McDonald, Amber M AM; Lacey, Jean M JM; Turgeon, Coleman T CT; Tucker, Justin N JN; Tang, Hao H; Currier, Robert R; Isaya, Grazia G; Rinaldo, Piero P; Matern, Dietrich D

Publication Date: 2020-06

Variant appearance in text: GLA: 593T>C; I198T

PubMed Link: 32802993

Variant Present in the following documents:

• Main text
• IJNS-06-00044.pdf

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Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup.

Journal Of Medical Genetics

Germain, Dominique P DP; Oliveira, João Paulo JP; Bichet, Daniel G DG; Yoo, Han-Wook HW; Hopkin, Robert J RJ; Lemay, Roberta R; Politei, Juan J; Wanner, Christoph C; Wilcox, William R WR; Warnock, David G DG

Publication Date: 2020-08

Variant appearance in text: GLA: Ile198Thr

PubMed Link: 32161151

Variant Present in the following documents:

• Main text

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Assessment of Gene Variant Amenability for Pharmacological Chaperone Therapy with 1-Deoxygalactonojirimycin in Fabry Disease.

International Journal Of Molecular Sciences

Lukas, Jan J; Cimmaruta, Chiara C; Liguori, Ludovica L; Pantoom, Supansa S; Iwanov, Katharina K; Petters, Janine J; Hund, Christina C; Bunschkowski, Maik M; Hermann, Andreas A; Cubellis, Maria Vittoria MV; Rolfs, Arndt A

Publication Date: 2020-01-31

Variant appearance in text: GLA: 593T>C; I198T

PubMed Link: 32023956

Variant Present in the following documents:

• Main text

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

Orphanet Journal Of Rare Diseases

Varela, Patrícia P; Mastroianni Kirsztajn, Gianna G; Motta, Fabiana L FL; Martin, Renan P RP; Turaça, Lauro T LT; Ferrer, Henrique L F HLF; Gomes, Caio P CP; Nicolicht, Priscila P; Mara Marins, Maryana M; Pessoa, Juliana G JG; Braga, Marion C MC; D'Almeida, Vânia V; Martins, Ana Maria AM; Pesquero, João B JB

Publication Date: 2020-01-29

Variant appearance in text: GLA: 593T>C; I198T; rs727503950

PubMed Link: 31996269

Variant Present in the following documents:

• Main text
• 13023_2019_Article_1274.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: I198T

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine

Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y

Publication Date: 2019-07

Variant appearance in text: GLA: 593T>C; Ile198Thr

PubMed Link: 31165590

Variant Present in the following documents:

• MGG3-7-e00748-s004.xlsx, sheet 1

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A Novel α-Galactosidase A Splicing Mutation Predisposes to Fabry Disease.

Frontiers In Genetics

Li, Ping P; Zhang, Lijuan L; Zhao, Na N; Xiong, Qiuhong Q; Zhou, Yong-An YA; Wu, Changxin C; Xiao, Han H

Publication Date: 2019

Variant appearance in text: GLA: I198T

PubMed Link: 30853972

Variant Present in the following documents:

• Main text
• fgene-10-00060.pdf

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LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease.

Plos One

Pettazzoni, Magali M; Froissart, Roseline R; Pagan, Cécile C; Vanier, Marie T MT; Ruet, Séverine S; Latour, Philippe P; Guffon, Nathalie N; Fouilhoux, Alain A; Germain, Dominique P DP; Levade, Thierry T; Vianey-Saban, Christine C; Piraud, Monique M; Cheillan, David D

Publication Date: 2017

Variant appearance in text: GLA: Ile198Thr

PubMed Link: 28749998

Variant Present in the following documents:

• Main text
• pone.0181700.pdf

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: GLA: I198T

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

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Fabry or not Fabry--a question of ascertainment.

European Journal Of Human Genetics : Ejhg

Houge, Gunnar G; Tøndel, Camilla C; Kaarbøe, Oyvind O; Hirth, Asle A; Bostad, Leif L; Svarstad, Einar E

Publication Date: 2011-11

Variant appearance in text: GLA: I198T

PubMed Link: 21587323

Variant Present in the following documents:

• Main text

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