Literature DB >> 18498967

Enzyme activity for determination of presence of Fabry disease in women results in 40% false-negative results.

Gabor E Linthorst, Ben J H M Poorthuis, Carla E M Hollak.   

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Year:  2008        PMID： 18498967     DOI： 10.1016/j.jacc.2008.02.050

Source DB:  PubMed          Journal:  J Am Coll Cardiol        ISSN： 0735-1097            Impact factor:   24.094


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  16 in total

1.  Fabry disease in latin america: data from the fabry registry.

Authors:  J Villalobos; J M Politei; A M Martins; G Cabrera; H Amartino; R Lemay; S Ospina; S Suarez Ordoñez; C Varas
Journal:  JIMD Rep       Date:  2012-07-06

2.  Female with Fabry Disease Unknowingly Donates Affected Kidney to Sister: A Call for Pre-transplant Genetic Testing.

Authors:  Lindsay S Paull; Michael J Lipinski; William G Wilson; Shawn E Lipinski
Journal:  JIMD Rep       Date:  2011-12-06

3.  Fabry disease: incidence of the common later-onset α-galactosidase A IVS4+919G→A mutation in Taiwanese newborns--superiority of DNA-based to enzyme-based newborn screening for common mutations.

Authors:  Yin-Hsiu Chien; Ni-Chung Lee; Shu-Chuan Chiang; Robert J Desnick; Wuh-Liang Hwu
Journal:  Mol Med       Date:  2012-07-18       Impact factor: 6.354

4.  Variations in the GLA gene correlate with globotriaosylceramide and globotriaosylsphingosine analog levels in urine and plasma.

Authors:  Susana Ferreira; Christiane Auray-Blais; Michel Boutin; Pamela Lavoie; José Pedro Nunes; Elisabete Martins; Scott Garman; João Paulo Oliveira
Journal:  Clin Chim Acta       Date:  2015-06-09       Impact factor: 3.786

5.  Clinical parameters, LysoGb3, podocyturia, and kidney biopsy in children with Fabry disease: is a correlation possible?

Authors:  Juan Politei; Valeria Alberton; Oscar Amoreo; Norberto Antongiovanni; Maria Nieves Arán; Marcelo Barán; Gustavo Cabrera; Silvia Di Pietrantonio; Consuelo Durand; Alejandro Fainboim; Joaquin Frabasil; Fernando Gomez Pizarro; Roberto Iotti; Miguel Liern; Fernando Perretta; Diego Ripeau; Fernanda Toniolo; Hernan Trimarchi; Dana Velasques Rivas; Eric Wallace; Andrea Beatriz Schenone
Journal:  Pediatr Nephrol       Date:  2018-07-09       Impact factor: 3.714

6.  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

7.  Early cardiovascular remodelling in Fabry disease.

Authors:  Luca Costanzo; Sergio Buccheri; Piera Capranzano; Luigi Di Pino; Giuseppina Curatolo; Margherita Rodolico; Stefano Leggio; Anita Blundo; Corrado Tamburino; Ines Monte
Journal:  J Inherit Metab Dis       Date:  2013-04-25       Impact factor: 4.982

Review 8.  Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review.

Authors:  Louise L C Pinto; Taiane A Vieira; Roberto Giugliani; Ida V D Schwartz
Journal:  Orphanet J Rare Dis       Date:  2010-05-28       Impact factor: 4.123

9.  Fabry disease and early stroke.

Authors:  U Feldt-Rasmussen
Journal:  Stroke Res Treat       Date:  2011-06-23

Review 10.  Fabry disease: recent advances in pathology, diagnosis, treatment and monitoring.

Authors:  Björn Hoffmann
Journal:  Orphanet J Rare Dis       Date:  2009-10-11       Impact factor: 4.123
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