Publications:

---

Multidisciplinary approach to screening and management of children with Fabry disease: practice at a Tertiary Children's Hospital in China.

Orphanet Journal Of Rare Diseases

Shen, Qian Q; Liu, Jialu J; Chen, Jing J; Zhou, Shuizheng S; Wang, Yi Y; Yu, Lifei L; Sun, Li L; Wang, Liuhui L; Wu, Bingbing B; Liu, Fang F; Cao, Yun Y; Huang, Ying Y; Wang, Jianshe J; Yang, Chenhao C; Zhu, Daqian D; Ma, Yangyang Y; Xu, Zhengmin Z; Lu, Wei W; Fu, Lili L; Zhou, Wenhao W; Xu, Hong H

Publication Date: 2021-12-14

Variant appearance in text: GLA: 277G>A; Asp93Asn

PubMed Link: 34906154

Variant Present in the following documents:

• Main text
• 13023_2021_Article_2136.pdf

View BVdb publication page

---

Multidisciplinary approach to screening and management of children with Fabry disease: practice at a Tertiary Children's Hospital in China.

Orphanet Journal Of Rare Diseases

Shen, Qian Q; Liu, Jialu J; Chen, Jing J; Zhou, Shuizheng S; Wang, Yi Y; Yu, Lifei L; Sun, Li L; Wang, Liuhui L; Wu, Bingbing B; Liu, Fang F; Cao, Yun Y; Huang, Ying Y; Wang, Jianshe J; Yang, Chenhao C; Zhu, Daqian D; Ma, Yangyang Y; Xu, Zhengmin Z; Lu, Wei W; Fu, Lili L; Zhou, Wenhao W; Xu, Hong H

Publication Date: 2021-12-14

Variant appearance in text: GLA: 277G>A; Asp93Asn

PubMed Link: 34906154

Variant Present in the following documents:

• Main text
• 13023_2021_Article_2136.pdf

View BVdb publication page

---

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: D93N

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

---

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: D93N

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

---

Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial.

Plos One

Wijburg, Frits A FA; Bénichou, Bernard B; Bichet, Daniel G DG; Clarke, Lorne A LA; Dostalova, Gabriela G; Fainboim, Alejandro A; Fellgiebel, Andreas A; Forcelini, Cassiano C; An Haack, Kristina K; Hopkin, Robert J RJ; Mauer, Michael M; Najafian, Behzad B; Scott, C Ronald CR; Shankar, Suma P SP; Thurberg, Beth L BL; Tøndel, Camilla C; Tylki-Szymańska, Anna A; Ramaswami, Uma U

Publication Date: 2015

Variant appearance in text: GLA: 277G>A; Asp93Asn

PubMed Link: 25955246

Variant Present in the following documents:

• Main text
• pone.0124987.pdf

View BVdb publication page

---

The CDC Hemophilia B mutation project mutation list: a new online resource.

Molecular Genetics & Genomic Medicine

Li, Tengguo T; Miller, Connie H CH; Payne, Amanda B AB; Craig Hooper, W W

Publication Date: 2013-11

Variant appearance in text: GLA: 277G>A; Asp93Asn

PubMed Link: 24498619

Variant Present in the following documents:

• mgg30001-0238-SD1.xlsx, sheet 2

View BVdb publication page

---

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: D93N

PubMed Link: 24386359

Variant Present in the following documents:

• Main text
• pone.0084267.pdf

View BVdb publication page

---

Analysis of lyso-globotriaosylsphingosine in dried blood spots.

Annals Of Laboratory Medicine

Johnson, Britt B; Mascher, Hermann H; Mascher, Daniel D; Legnini, Elisa E; Hung, Christina Y CY; Dajnoki, Angela A; Chien, Yin-Hsiu YH; Maródi, László L; Hwu, Wuh-Liang WL; Bodamer, Olaf A OA

Publication Date: 2013-07

Variant appearance in text: GLA: D93N

PubMed Link: 23826564

Variant Present in the following documents:

• alm-33-274.pdf

View BVdb publication page

---

Adipocytes participate in storage in α-galactosidase deficiency (Fabry disease).

Journal Of Inherited Metabolic Disease

Hůlková, Helena H; Elleder, Milan M

Publication Date: 2010-12

Variant appearance in text: GLA: Asp93Asn

PubMed Link: 20628902

Variant Present in the following documents:

• Main text
• 10545_2010_Article_9160.pdf

View BVdb publication page

---

Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).

Human Mutation

Hwu, Wuh-Liang WL; Chien, Yin-Hsiu YH; Lee, Ni-Chung NC; Chiang, Shu-Chuan SC; Dobrovolny, Robert R; Huang, Ai-Chu AC; Yeh, Hui-Ying HY; Chao, May-Chin MC; Lin, Shio-Jean SJ; Kitagawa, Teruo T; Desnick, Robert J RJ; Hsu, Li-Wen LW

Publication Date: 2009-10

Variant appearance in text: GLA: 277G>A; D93N

PubMed Link: 19621417

Variant Present in the following documents:

• Main text

View BVdb publication page

---