Publications:

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A phase II, multicenter, open-label trial to evaluate the safety and efficacy of ISU303 (Agalsidase beta) in patients with Fabry disease.

Medicine

Hwang, Soojin S; Lee, Beom Hee BH; Kim, Woo-Shik WS; Kim, Dae-Seong DS; Cheon, Chong Kun CK; Lee, Chang Hwa CH; Choi, Yunha Y; Choi, Jin-Ho JH; Kim, Ja Hye JH; Yoo, Han-Wook HW

Publication Date: 2022-09-16

Variant appearance in text: GLA: 426C>G; Cys142Trp

PubMed Link: 36123934

Variant Present in the following documents:

• Main text
• medi-101-e30345.pdf

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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: C142W

PubMed Link: 35722479

Variant Present in the following documents:

• Main text
• fped-10-908657.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: C142W

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

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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: C142W

PubMed Link: 30384423

Variant Present in the following documents:

• Main text
• ijms-19-03409.pdf

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Fabry disease: characterisation of the plasma proteome pre- and post-enzyme replacement therapy.

Journal Of Medical Genetics

Heo, Sun Hee SH; Kang, Eungu E; Kim, Yoon-Myung YM; Go, Heounjeong H; Kim, Kyung Yong KY; Jung, Jae Yong JY; Kang, Minji M; Kim, Gu-Hwan GH; Kim, Jae-Min JM; Choi, In-Hee IH; Choi, Jin-Ho JH; Jung, Sung-Chul SC; Desnick, Robert J RJ; Yoo, Han-Wook HW; Lee, Beom Hee BH

Publication Date: 2017-11

Variant appearance in text: GLA: 426C>G; Cys142Trp

PubMed Link: 28835480

Variant Present in the following documents:

• Main text
• jmedgenet-2017-104704.pdf

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Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests.

Orphanet Journal Of Rare Diseases

Andreotti, Giuseppina G; Citro, Valentina V; De Crescenzo, Agostina A; Orlando, Pierangelo P; Cammisa, Marco M; Correra, Antonella A; Cubellis, Maria Vittoria MV

Publication Date: 2011-10-17

Variant appearance in text: GLA: 426C>G; C142W

PubMed Link: 22004918

Variant Present in the following documents:

• 1750-1172-6-66.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: C142W

PubMed Link: 19287194

Variant Present in the following documents:

• Main text

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