Literature DB >> 11692469

Fabry disease: clinical features and recent advances in enzyme replacement therapy.

R J Desnick1, M P Wasserstein.   

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Year:  2001        PMID： 11692469

Source DB:  PubMed          Journal:  Adv Nephrol Necker Hosp        ISSN： 0084-5957


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  12 in total

Review 1.  Renal disease in Fabry patients.

Authors:  J P Grünfeld; O Lidove; D Joly; F Barbey
Journal:  J Inherit Metab Dis       Date:  2001       Impact factor: 4.982

Review 2.  Microvascular dysfunction in infiltrative cardiomyopathies.

Authors:  Ornella Rimoldi; Francesco Maranta
Journal:  J Nucl Cardiol       Date:  2017-07-11       Impact factor: 5.952

3.  Mutational analysis of the GLA gene in Mexican families with Fabry disease.

Authors:  Bianca Ethel Gutiérrez-Amavizca; Andreas Gal; Rocío Ortíz-Orozco; Ulrich Orth; Ernesto Prado Montes De Oca; Jaime Paul Gutiérrez-Amavizca; Luis E Figuera
Journal:  J Genet       Date:  2017-03       Impact factor: 1.166

Review 4.  Fabry disease-what cardiologists can learn from the nephrologist: a narrative review.

Authors:  Christine E Kurschat
Journal:  Cardiovasc Diagn Ther       Date:  2021-04

5.  Improvement in the sensitivity of newborn screening for Fabry disease among females through the use of a high-throughput and cost-effective method, DNA mass spectrometry.

Authors:  Yung-Hsiu Lu; Po-Hsun Huang; Li-Yun Wang; Ting-Rong Hsu; Hsing-Yuan Li; Pi-Chang Lee; Yu-Ping Hsieh; Sheng-Che Hung; Yu-Chen Wang; Sheng-Kai Chang; Ya-Ting Lee; Ping-Hsun Ho; Hui-Chen Ho; Dau-Ming Niu
Journal:  J Hum Genet       Date:  2017-11-15       Impact factor: 3.172

6.  ZFN-mediated in vivo gene editing in hepatocytes leads to supraphysiologic α-Gal A activity and effective substrate reduction in Fabry mice.

Authors:  Silvere Pagant; Marshall W Huston; Luciana Moreira; Lin Gan; Susan St Martin; Scott Sproul; Michael C Holmes; Kathleen Meyer; Thomas Wechsler; Robert J Desnick; Makiko Yasuda
Journal:  Mol Ther       Date:  2021-03-26       Impact factor: 11.454

7.  Endomyocardial biopsies in patients with left ventricular hypertrophy and a common Chinese later-onset Fabry mutation (IVS4 + 919G > A).

Authors:  Ting-Rong Hsu; Shih-Hsien Sung; Fu-Pang Chang; Chia-Feng Yang; Hao-Chuan Liu; Hsiang-Yu Lin; Chun-Kai Huang; He-Jin Gao; Yu-Hsiu Huang; Hsuan-Chieh Liao; Pi-Chang Lee; An-Hang Yang; Chuan-Chi Chiang; Ching-Yuang Lin; Wen-Chung Yu; Dau-Ming Niu
Journal:  Orphanet J Rare Dis       Date:  2014-07-01       Impact factor: 4.123

8.  Interleukin-18 deteriorates Fabry cardiomyopathy and contributes to the development of left ventricular hypertrophy in Fabry patients with GLA IVS4+919 G>A mutation.

Authors:  Yueh Chien; Chian-Shiu Chien; Huai-Chih Chiang; Wei-Lin Huang; Shih-Jie Chou; Wei-Chao Chang; Yuh-Lih Chang; Hsin-Bang Leu; Kuan-Hsuan Chen; Kang-Ling Wang; Ying-Hsiu Lai; Yung-Yang Liu; Kai-Hsi Lu; Hsin-Yang Li; Yen-Jen Sung; Yuh-Jyh Jong; Yann-Jang Chen; Chung-Hsuan Chen; Wen-Chung Yu
Journal:  Oncotarget       Date:  2016-12-27

9.  Diagnostic Clues for the Diagnosis of Nonsarcomeric Hypertrophic Cardiomyopathy (Phenocopies): Amyloidosis, Fabry Disease, and Mitochondrial Disease.

Authors:  Giuseppe Limongelli; Daniele Masarone; Marina Verrengia; Rita Gravino; Gemma Salerno; Silvia Castelletti; Marta Rubino; Tommaso Marrazzo; Antonio Pisani; Franco Cecchi; Perry Mark Elliott; Giuseppe Pacileo
Journal:  J Cardiovasc Echogr       Date:  2018 Apr-Jun

10.  Long-term effectiveness of enzyme replacement therapy in Fabry disease: results from the NCS-LSD cohort study.

Authors:  L J Anderson; K M Wyatt; W Henley; V Nikolaou; S Waldek; D A Hughes; G M Pastores; S Logan
Journal:  J Inherit Metab Dis       Date:  2014-05-15       Impact factor: 4.982
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