Publications:

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Clinical Characteristics, Renal Involvement, and Therapeutic Options of Pediatric Patients With Fabry Disease.

Frontiers In Pediatrics

Muntean, Carmen C; Starcea, Iuliana Magdalena IM; Stoica, Cristina C; Banescu, Claudia C

Publication Date: 2022

Variant appearance in text: GLA: M42V

PubMed Link: 35722479

Variant Present in the following documents:

• Main text
• fped-10-908657.pdf

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Corneal densitometry: a potential indicator for early diagnosis of Fabry disease.

Graefe'S Archive For Clinical And Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie

Li, Senmao S; Siggel, Robert R; Guo, Yongwei Y; Loreck, Niklas N; Rokohl, Alexander C AC; Kurschat, Christine C; Heindl, Ludwig M LM

Publication Date: 2021-04

Variant appearance in text: GLA: 124A>G; M42V

PubMed Link: 33258999

Variant Present in the following documents:

• Main text

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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: M42V

PubMed Link: 32995357

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• Main text
• main.pdf

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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: 124A>G; M42V

PubMed Link: 32023956

Variant Present in the following documents:

• Main text
• ijms-21-00956.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: M42V

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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Fabry disease in a Japanese population-molecular and biochemical characteristics.

Molecular Genetics And Metabolism Reports

Sakuraba, Hitoshi H; Tsukimura, Takahiro T; Togawa, Tadayasu T; Tanaka, Toshie T; Ohtsuka, Tomoko T; Sato, Atsuko A; Shiga, Tomoko T; Saito, Seiji S; Ohno, Kazuki K

Publication Date: 2018-12

Variant appearance in text: GLA: 124A>G

PubMed Link: 30386727

Variant Present in the following documents:

• Main text
• main.pdf

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In Silico Analysis of Missense Mutations as a First Step in Functional Studies: Examples from Two Sphingolipidoses.

International Journal Of Molecular Sciences

Duarte, Ana Joana AJ; Ribeiro, Diogo D; Moreira, Luciana L; Amaral, Olga O

Publication Date: 2018-10-31

Variant appearance in text: GLA: M42V

PubMed Link: 30384423

Variant Present in the following documents:

• Main text

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Urine-derived cells: a promising diagnostic tool in Fabry disease patients.

Scientific Reports

Slaats, Gisela G GG; Braun, Fabian F; Hoehne, Martin M; Frech, Laura E LE; Blomberg, Linda L; Benzing, Thomas T; Schermer, Bernhard B; Rinschen, Markus M MM; Kurschat, Christine E CE

Publication Date: 2018-07-23

Variant appearance in text: GLA: 124A>G; M42V

PubMed Link: 30038331

Variant Present in the following documents:

• Main text
• 41598_2018_Article_29240.pdf
• 41598_2018_29240_MOESM1_ESM.pdf

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Plasma mutant α-galactosidase A protein and globotriaosylsphingosine level in Fabry disease.

Molecular Genetics And Metabolism Reports

Tsukimura, Takahiro T; Nakano, Sachie S; Togawa, Tadayasu T; Tanaka, Toshie T; Saito, Seiji S; Ohno, Kazuki K; Shibasaki, Futoshi F; Sakuraba, Hitoshi H

Publication Date: 2014

Variant appearance in text: GLA: M42V

PubMed Link: 27896103

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• Main text
• main.pdf

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Identification of an Allosteric Binding Site on Human Lysosomal Alpha-Galactosidase Opens the Way to New Pharmacological Chaperones for Fabry Disease.

Plos One

Citro, Valentina V; Peña-García, Jorge J; den-Haan, Helena H; Pérez-Sánchez, Horacio H; Del Prete, Rosita R; Liguori, Ludovica L; Cimmaruta, Chiara C; Lukas, Jan J; Cubellis, Maria Vittoria MV; Andreotti, Giuseppina G

Publication Date: 2016

Variant appearance in text: GLA: M42V

PubMed Link: 27788225

Variant Present in the following documents:

• Main text

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

Plos One

Pan, Xiaoxia X; Ouyang, Yan Y; Wang, Zhaohui Z; Ren, Hong H; Shen, Pingyan P; Wang, Weiming W; Xu, Yaowen Y; Ni, Liyan L; Yu, Xialian X; Chen, Xiaonong X; Zhang, Wen W; Yang, Li L; Li, Xiao X; Xu, Jing J; Chen, Nan N

Publication Date: 2016

Variant appearance in text: GLA: M42V

PubMed Link: 27560961

Variant Present in the following documents:

• Main text
• pone.0161330.pdf

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Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease.

Orphanet Journal Of Rare Diseases

Lenders, Malte M; Hennermann, Julia B JB; Kurschat, Christine C; Rolfs, Arndt A; Canaan-Kühl, Sima S; Sommer, Claudia C; Üçeyler, Nurcan N; Kampmann, Christoph C; Karabul, Nesrin N; Giese, Anne-Katrin AK; Duning, Thomas T; Stypmann, Jörg J; Krämer, Johannes J; Weidemann, Frank F; Brand, Stefan-Martin SM; Wanner, Christoph C; Brand, Eva E

Publication Date: 2016-06-29

Variant appearance in text: GLA: M42V

PubMed Link: 27356758

Variant Present in the following documents:

• Main text
• 13023_2016_Article_473.pdf

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: GLA: M42V

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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Detecting the effects of Fabry disease in the adult human brain with diffusion tensor imaging and fast bound-pool fraction imaging.

Journal Of Magnetic Resonance Imaging : Jmri

Underhill, Hunter R HR; Golden-Grant, Katie K; Garrett, Lauren T LT; Uhrich, Stefanie S; Zielinski, Brandon A BA; Scott, C Ronald CR

Publication Date: 2015-12

Variant appearance in text: GLA: M42V

PubMed Link: 26018987

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• Main text

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Nano-LC-MS/MS for Quantification of Lyso-Gb3 and Its Analogues Reveals a Useful Biomarker for Fabry Disease.

Plos One

Sueoka, Hideaki H; Ichihara, Junji J; Tsukimura, Takahiro T; Togawa, Tadayasu T; Sakuraba, Hitoshi H

Publication Date: 2015

Variant appearance in text: GLA: M42V

PubMed Link: 25965380

Variant Present in the following documents:

• Main text
• pone.0127048.pdf

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Comparative study of structural changes caused by different substitutions at the same residue on α-galactosidase A.

Plos One

Saito, Seiji S; Ohno, Kazuki K; Sakuraba, Hitoshi H

Publication Date: 2013

Variant appearance in text: GLA: M42V

PubMed Link: 24386359

Variant Present in the following documents:

• Main text
• pone.0084267.pdf

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Pharmacological chaperone therapy for Fabry disease.

Proceedings Of The Japan Academy. Series B, Physical And Biological Sciences

Ishii, Satoshi S

Publication Date: 2012

Variant appearance in text: GLA: M42V

PubMed Link: 22241068

Variant Present in the following documents:

• pjab-88-018.pdf

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Effects of a chemical chaperone on genetic mutations in alpha-galactosidase A in Korean patients with Fabry disease.

Experimental & Molecular Medicine

Park, Jung Young JY; Kim, Gu Hwan GH; Kim, Sung Su SS; Ko, Jung Min JM; Lee, Jin Joo JJ; Yoo, Han Wook HW

Publication Date: 2009-01-31

Variant appearance in text: GLA: M42V

PubMed Link: 19287194

Variant Present in the following documents:

• Main text

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Short-term efficacy of enzyme replacement therapy in Korean patients with Fabry disease.

Journal Of Korean Medical Science

Choi, Jin-Ho JH; Cho, Young Mi YM; Suh, Kwang-Sun KS; Yoon, Hye-Ran HR; Kim, Gu-Hwan GH; Kim, Sung-Su SS; Ko, Jung Min JM; Lee, Joo Hoon JH; Park, Young Seo YS; Yoo, Han-Wook HW

Publication Date: 2008-04

Variant appearance in text: GLA: M42V

PubMed Link: 18437007

Variant Present in the following documents:

• jkms-23-243.pdf

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