Literature DB >> 12920095

Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers.

A Morrone1, C Cavicchi, T Bardelli, D Antuzzi, R Parini, M Di Rocco, S Feriozzi, O Gabrielli, R Barone, G Pistone, C Spisni, R Ricci, E Zammarchi.   

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Year:  2003        PMID： 12920095      PMCID： PMC1735554          DOI： 10.1136/jmg.40.8.e103

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


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  21 in total

1.  Natural history of Fabry disease in females in the Fabry Outcome Survey.

Authors:  P B Deegan; A F Baehner; M-A Barba Romero; D A Hughes; C Kampmann; M Beck
Journal:  J Med Genet       Date:  2005-10-14       Impact factor: 6.318

2.  Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome.

Authors:  Lorenzo Ferri; Maria A Donati; Silvia Funghini; Catia Cavicchi; Viviana Pensato; Cinzia Gellera; Federica Natacci; Luigina Spaccini; Serena Gasperini; Frédéric M Vaz; David N Cooper; Renzo Guerrini; Amelia Morrone
Journal:  Eur J Hum Genet       Date:  2015-03-18       Impact factor: 4.246

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.  Recommendations for the inclusion of Fabry disease as a rare febrile condition in existing algorithms for fever of unknown origin.

Authors:  Raffaele Manna; Roberto Cauda; Sandro Feriozzi; Giovanni Gambaro; Antonio Gasbarrini; Didier Lacombe; Avi Livneh; Alberto Martini; Huri Ozdogan; Antonio Pisani; Eleonora Riccio; Elena Verrecchia; Lorenzo Dagna
Journal:  Intern Emerg Med       Date:  2017-07-19       Impact factor: 3.397

5.  Effects of enzyme replacement therapy on pain and health related quality of life in patients with Fabry disease: data from FOS (Fabry Outcome Survey).

Authors:  B Hoffmann; A Garcia de Lorenzo; A Mehta; M Beck; U Widmer; R Ricci
Journal:  J Med Genet       Date:  2005-03       Impact factor: 6.318

6.  Functional studies of new GLA gene mutations leading to conformational Fabry disease.

Authors:  C Filoni; A Caciotti; L Carraresi; C Cavicchi; R Parini; D Antuzzi; A Zampetti; S Feriozzi; P Poisetti; S C Garman; R Guerrini; E Zammarchi; M A Donati; A Morrone
Journal:  Biochim Biophys Acta       Date:  2009-11-24

7.  Structure-function relationships in alpha-galactosidase A.

Authors:  Scott C Garman
Journal:  Acta Paediatr       Date:  2007-04       Impact factor: 2.299

8.  Structural characterization of mutant alpha-galactosidases causing Fabry disease.

Authors:  Kanako Sugawara; Kazuki Ohno; Seiji Saito; Hitoshi Sakuraba
Journal:  J Hum Genet       Date:  2008-07-17       Impact factor: 3.172

9.  Myofilament degradation and dysfunction of human cardiomyocytes in Fabry disease.

Authors:  Cristina Chimenti; Nazha Hamdani; Nicky M Boontje; Francesco DeCobelli; Antonio Esposito; Jean G F Bronzwaer; Ger J M Stienen; Matteo A Russo; Walter J Paulus; Andrea Frustaci; Jolanda van der Velden
Journal:  Am J Pathol       Date:  2008-05-08       Impact factor: 4.307

Review 10.  Dosage Compensation in Females with X-Linked Metabolic Disorders.

Authors:  Patrycja Juchniewicz; Ewa Piotrowska; Anna Kloska; Magdalena Podlacha; Jagoda Mantej; Grzegorz Węgrzyn; Stefan Tukaj; Joanna Jakóbkiewicz-Banecka
Journal:  Int J Mol Sci       Date:  2021-04-26       Impact factor: 5.923
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