Results 151 to 160 of about 10,310 (200)

An echocardiographic prognostic risk stratification decision tree to determine adverse events in Anderson-Fabry disease. [PDF]

Eur Heart J Imaging Methods Pract
Stefani L, Boyd A, Pham J, Zada M, Emerson P, Devine K, Tchan M, Thomas L.   +7 more
europepmc   +1 more source

The Identification of a Novel Pathogenic Variant of the <i>GLA</i> Gene Associated with a Classic Phenotype of Anderson-Fabry Disease: A Clinical and Molecular Study. [PDF]

Int J Mol Sci
Giacalone I, Ruzzi L, Anania M, Cuonzo M, Marsana EM, Mastrippolito S, Francofonte D, Bucco S, D'Errico A, Longo MO, Zizzo C, Iarlori L, Duro G, Colomba P.   +13 more
europepmc   +1 more source

Phenotypic Expression and Outcomes in Patients with the p.Arg301Gln GLA Variant in Anderson-Fabry Disease. [PDF]

Int J Mol Sci
Blanco R, Rico-Ramírez Y, Hermida-Ameijeiras Á, Abdullah IMS, Lau K, Alvarez-Rubio J, Fortuny E, Martínez-Monzonís A, Nowak A, Nordbeck P, Veras-Burgos C, Pons-Llinares J, Rossi E, Caimi-Martínez F, Bosch-Rovira T, Alamar-Cervera M, Ruiz-Pizarro V, Torres-Juan L, Heine-Suñer D, Ripoll-Vera T.   +19 more
europepmc   +1 more source

Expanding the Neurological Phenotype of Anderson-Fabry Disease: Proof of Concept for an Extrapyramidal Neurodegenerative Pattern and Comparison with Monogenic Vascular Parkinsonism. [PDF]

Cells
Zedde M, Romani I, Scaravilli A, Cocozza S, Trojano L, Ragno M, Rifino N, Bersano A, Gerevini S, Pantoni L, Valzania F, Pascarella R.   +11 more
europepmc   +1 more source

CMR demonstration of multiple morphological phenotypes in Anderson-Fabry disease [PDF]

, 2015

core   +1 more source

Isolated ‘cardiac Variant’ of Anderson-fabry Disease Diagnosed by CMR

Journal of Cardiovascular Magnetic Resonance
Husna Mohd Zaki, Zeyad Elmarzouky, MD, Riham Elbialy, Ihab Abdelgawwad, Omar Tawfik, Safa Daghem, Iwan Harries, PhD, Mark Hamilton, Gergely Szantho, MD, Eva Sammut, Nathan Manghat   +10 more
doaj   +1 more source

Can Amyloid and Anderson-fabry Disease Have a CMR Overlap Syndrome?

Journal of Cardiovascular Magnetic Resonance
Saed Alnaimat, Mariah Mascara, MD, Abdallah Naser, MD, Marco Kaldas, MD, Victor Farah, MD, FSCMR, Moneal Shah, MD, FSCMR, Robert Biederman, MD, FSCMR   +6 more
doaj   +1 more source

Terapia enzimatica sostitutiva nella malattia di Fabry: cosa abbiamo imparato dallo switch?

, 2014
Pisani, Antonio, Riccio, Eleonora
core  

Some of the next articles are maybe not open access.

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Anderson-Fabry's disease: α galactosidase deficiency

The Lancet, 2001
Correspondence to: Dr F P J Peters smooth muscles of blood vessels, erector pilori muscles in skin, myocardium, epithelial cells of the cornea, as well as in the kidney, pancreas, bowel, lung, and other tissues. The disease can be divided into classic hemizygous, atypical, and heterozygous (female) forms (panel).
F P, Peters, A, Vermeulen, T L, Kho
openaire   +4 more sources

Anderson-Fabry disease*

British Journal of Dermatology, 2006
SUMMARY Electron microscopy of clinically uninvolved skin taken from a 12-month-old male child with biochemically proven angiokeratoma corporis diffusum showed characteristic lamellar lipid deposits within endothclial and perithelial cells of dermal blood vessels. Ultrastructural examination of skin may aid the early identification of males affected
Petar, Kes, Nikolina, Basić-Jukić, Bruna, Brunetta, Ivana, Jurić   +3 more
  +6 more sources