Results 161 to 170 of about 62,873 (218)

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

Processing of mitochondrial precursor proteins [PDF]

, 1984
Neupert, Walter, Schmidt, Bernd
core  

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

, 2014
Pisani, Antonio, Riccio, Eleonora
core  

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The Role of Cardiac Imaging in the Diagnosis and Management of Anderson-Fabry Disease.

JACC: Cardiovascular Imaging, 2019
Anderson-Fabry disease (AFD) is a rare X-linked inherited metabolic disorder which results in a deficiency or absence of the enzyme α-galactosidase A, leading to the accumulation of glycosphingolipids in various cells and organs including the heart ...
R. Perry, Ranjit J. Shah, M. Saiedi, S. Patil, A. Ganesan, A. Linhart, J. Selvanayagam   +6 more
semanticscholar   +3 more sources

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

Anderson-Fabry disease.

Lancet (London, England), 1990
exaly   +5 more sources

Enzyme replacement in Anderson-Fabry disease

The Lancet, 2003
Bengtsson, Bengt-Ake, Johansson, Jan-Ove, Hollak, Carla, Linthorst, Gabor, FeldtRasmussen, Ulla   +4 more
openaire   +5 more sources

Treatment of Anderson-Fabry Disease

Current Pharmaceutical Design, 2020
Fabry disease is an X-linked disorder of glycosphingolipid metabolism that results in progressive accumulation of neutral glycosphingolipids, predominantly globotriaosylsphingosine (Gb3) in lysosomes, as well as other cellular compartments of several tissues, causing multi-organ manifestations (acroparesthesias, hypohidrosis, angiokeratomas, signs ...
Irene Simonetta, Antonino Tuttolomondo, Mario Daidone, Salvatore Miceli, Antonio Pinto   +4 more
openaire   +2 more sources