Publications:

---

Fabry Disease and the Effectiveness of Enzyme Replacement Therapy (ERT) in Left Ventricular Hypertrophy (LVH) Improvement: A Review and Meta-Analysis.

International Journal Of Medical Sciences

Lee, Chung-Lin CL; Lin, Shuan-Pei SP; Niu, Dau-Ming DM; Lin, Hsiang-Yu HY

Publication Date: 2022

Variant appearance in text: GLA: S345X

PubMed Link: 34975306

Variant Present in the following documents:

• Main text
• ijmsv19p0126.pdf

View BVdb publication page

---

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: 1034C>G; S345X

PubMed Link: 30386727

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

---

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: S345X

PubMed Link: 25965380

Variant Present in the following documents:

• Main text
• pone.0127048.pdf

View BVdb publication page

---

Age at First Cardiac Symptoms in Fabry Disease: Association with a Chinese Hotspot Fabry Mutation (IVS4+919G>A), Classical Fabry Mutations, and Sex in a Taiwanese Population from the Fabry Outcome Survey (FOS).

Jimd Reports

Liu, Hao-Chuan HC; Perrin, Amandine A; Hsu, Ting-Rong TR; Yang, Chia-Feng CF; Lin, Hsiang-Yu HY; Yu, Wen-Chung WC; Niu, Dau-Ming DM

Publication Date: 2015

Variant appearance in text: GLA: 1034C>G

PubMed Link: 25762495

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Globotriaosylsphingosine (lyso-Gb3) might not be a reliable marker for monitoring the long-term therapeutic outcomes of enzyme replacement therapy for late-onset Fabry patients with the Chinese hotspot mutation (IVS4+919G>A).

Orphanet Journal Of Rare Diseases

Liu, Hao-Chuan HC; Lin, Hsiang-Yu HY; Yang, Chia-Feng CF; Liao, Hsuan-Chieh HC; Hsu, Ting-Rong TR; Lo, Chiao-Wei CW; Chang, Fu-Pang FP; Huang, Chun-Kai CK; Lu, Yung-Hsiu YH; Lin, Shuan-Pei SP; Yu, Wen-Chung WC; Niu, Dau-Ming DM

Publication Date: 2014-07-22

Variant appearance in text: GLA: 1034C>G

PubMed Link: 25047006

Variant Present in the following documents:

• Main text
• s13023-014-0111-y.pdf

View BVdb publication page

---

Development of a highly sensitive immuno-PCR assay for the measurement of α-galactosidase A protein levels in serum and plasma.

Plos One

Nakano, Sachie S; Morizane, Yoshihito Y; Makisaka, Noriko N; Suzuki, Toshihiro T; Togawa, Tadayasu T; Tsukimura, Takahiro T; Kawashima, Ikuo I; Sakuraba, Hitoshi H; Shibasaki, Futoshi F

Publication Date: 2013

Variant appearance in text: GLA: S345X

PubMed Link: 24236025

Variant Present in the following documents:

• Main text
• pone.0078588.pdf
• pone.0078588.s002.xlsx, sheet 1

View BVdb publication page

---

Effects of enzyme replacement therapy for cardiac-type Fabry patients with a Chinese hotspot late-onset Fabry mutation (IVS4+919G>A).

Bmj Open

Lin, Hsiang-Yu HY; Liu, Hao-Chuan HC; Huang, Yu-Hsiu YH; Liao, Hsuan-Chieh HC; Hsu, Ting-Rong TR; Shen, Chia-I CI; Li, Shao-Tzu ST; Li, Cheng-Fang CF; Lee, Li-Hong LH; Lee, Pi-Chang PC; Huang, Chun-Kai CK; Chiang, Chuan-Chi CC; Lin, Ching-Yuang CY; Lin, Shuan-Pei SP; Niu, Dau-Ming DM

Publication Date: 2013

Variant appearance in text: GLA: S345X

PubMed Link: 23864212

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Use of lissamine rhodamine ceramide trihexoside as a functional assay for alpha-galactosidase A in intact cells.

Journal Of Lipid Research

Kaneski, Christine R CR; Schiffmann, Raphael R; Brady, Roscoe O RO; Murray, Gary J GJ

Publication Date: 2010-09

Variant appearance in text: GLA: S345X

PubMed Link: 20526001

Variant Present in the following documents:

• Main text

View BVdb publication page

---