Literature DB >> 5592081

Angiokeratoma corporis diffusum--Fabry's disease.

A Colombi, A Kostyal, R Bracher, F Gloor, R Mazzi, H Thölen.   

Abstract

Entities:  

Mesh：

Year:  1967        PMID： 5592081

Source DB:  PubMed          Journal:  Helv Med Acta        ISSN： 0018-0203


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  18 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.  Progressive renal failure despite long-term biweekly enzyme replacement therapy in a patient with Fabry disease secondary to a new α-galactosidase mutation of Leu311Arg (L311R).

Authors:  Keisuke Suzuki; Naoto Miura; Wataru Kitagawa; Shinkichi Suzuki; Atsushi Komatsuda; Kazuhiro Nishikawa; Daisuke Watanabe; Hirokazu Imai
Journal:  Clin Exp Nephrol       Date:  2011-07-15       Impact factor: 2.801

Review 4.  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

5.  Angiokeratoma corporis diffusum (Anderson-Fabry disease) in a single large family in Nova Scotia.

Authors:  M W Spence; J T Clarke; D M D'Entremont; G A Sapp; E R Smith; A L Goldbloom; G Davar
Journal:  J Med Genet       Date:  1978-12       Impact factor: 6.318

6.  The Changing Landscape of Fabry Disease.

Authors:  Einar Svarstad; Hans Peter Marti
Journal:  Clin J Am Soc Nephrol       Date:  2020-03-04       Impact factor: 8.237

7.  Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males.

Authors:  K D MacDermot; A Holmes; A H Miners
Journal:  J Med Genet       Date:  2001-11       Impact factor: 6.318

8.  Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors.

Authors:  Dawn A Laney; Robin L Bennett; Virginia Clarke; Angela Fox; Robert J Hopkin; Jack Johnson; Erin O'Rourke; Katherine Sims; Gerald Walter
Journal:  J Genet Couns       Date:  2013-07-17       Impact factor: 2.537

Review 9.  Anderson-Fabry cardiomyopathy: prevalence, pathophysiology, diagnosis and treatment.

Authors:  Brendan N Putko; Kevin Wen; Richard B Thompson; John Mullen; Miriam Shanks; Haran Yogasundaram; Consolato Sergi; Gavin Y Oudit
Journal:  Heart Fail Rev       Date:  2015-03       Impact factor: 4.214

10.  Anderson-Fabry disease: a histopathological study of three cases with observations on the mechanism of production of pain.

Authors:  P Kahn
Journal:  J Neurol Neurosurg Psychiatry       Date:  1973-12       Impact factor: 10.154
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