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Literature DB >> 11732485

Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females.

K D MacDermot, A Holmes, A H Miners.

Abstract

Entities: Disease

Mesh：

Year: 2001 PMID： 11732485 PMCID： PMC1734754 DOI： 10.1136/jmg.38.11.769

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

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Cited

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186 in total

1. Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors.

Authors: Robin L Bennett; Kimberly A Hart; Erin O'Rourke; John A Barranger; Jack Johnson; Kay D MacDermot; Gregory M Pastores; Robert D Steiner; Ravi Thadhani
Journal: J Genet Couns Date: 2002-04 Impact factor: 2.537

2. Anderson-Fabry disease in Austria.

Authors: Matthias Lorenz; Anna-Christina Hauser; Margot Püspök-Schwarz; Peter Kotanko; Ingrid Arias; Herbert Zodl; Reinhard Kramar; Eduard Paschke; Till Voigtländer; Gere Sunder-Plassmann
Journal: Wien Klin Wochenschr Date: 2003-04-30 Impact factor: 1.704

Review 3. Fabry disease, enzyme replacement therapy and the significance of antibody responses.

Authors: Patrick B Deegan
Journal: J Inherit Metab Dis Date: 2011-10-25 Impact factor: 4.982

4. Unravelling the mechanism of action of enzyme replacement therapy in Fabry disease.

Authors: Younhee Ko; CheolHo Lee; Myeong Hee Moon; Geu-Ru Hong; Chong-Kun Cheon; Jin-Sung Lee
Journal: J Hum Genet Date: 2015-10-22 Impact factor: 3.172

Review 5. Fabry disease: a rare cause of neuropathic pain.

Authors: Marieke Biegstraaten; Gabor E Linthorst; Ivo N van Schaik; Carla E M Hollak
Journal: Curr Pain Headache Rep Date: 2013-10

6. High prevalence of subclinical hypothyroidism in patients with Anderson-Fabry disease.

Authors: A C Hauser; A Gessl; M Lorenz; T Voigtländer; M Födinger; G Sunder-Plassmann
Journal: J Inherit Metab Dis Date: 2005 Impact factor: 4.982

7. Improvement of Fabry Disease-Related Gastrointestinal Symptoms in a Significant Proportion of Female Patients Treated with Agalsidase Beta: Data from the Fabry Registry.

Authors: William R Wilcox; Ulla Feldt-Rasmussen; Ana Maria Martins; Alberto Ortiz; Roberta M Lemay; Ana Jovanovic; Dominique P Germain; Carmen Varas; Katherine Nicholls; Frank Weidemann; Robert J Hopkin
Journal: JIMD Rep Date: 2017-05-17