Results 41 to 50 of about 4,907,795 (224)

Echocardiography in Fabry Disease [PDF]

Cardiogenetics, 2013
Fabry disease is an X-linked lysosomal storage disorder caused by alpha-galactosidase A deficiency. The genetic defect leads to progressive intracellular accumulation of Gl3 in various tissues, including heart, kidney, vascular endothelium and the nervous system.
Markus Niemann, Frank Weidemann
openaire   +2 more sources

Multisystem lesions in orphan diseases: rheumatological aspects of Fabry's disease. Case report [PDF]

Терапевтический архив, 2023
FabryAndersen disease is a genetically determined, progressive disease related to lysosomal storage diseases, linked to the X chromosome, characterized by impaired glycosphingolipid metabolism, due to the deficiency or absence of the enzyme ...
Olga V. Mashkunova, Asel H. Isabekova, Aigerim Z. Botabekova, Pavel I. Novikov   +3 more
doaj   +1 more source

Angiokeratoma: decision-making aid for the diagnosis of Fabry disease

, 2012
Isolated angiokeratomas are common benign cutaneous lesions, generally deemed unworthy of further investigation. In contrast, diffuse angiokeratomas should alert the physician to a possible diagnosis of Fabry disease, a rare X-linked lysosomal storage
the Interdisciplinary Study Group on Fabry Disease, Gnarra,M, Aspite,N, Cardinali,G, Zampetti,A, BONGIORNO, Maria Rita, Manco,S, Morrone,A, Feliciani C., Linder,D, Parini,R, Antuzzi,D, O.r.t.e.u.,.C. H., Kovacs,D   +13 more
core   +2 more sources

Fabry Disease [PDF]

Journal of the American Society of Nephrology, 2014
Fabry disease is an X-linked disorder resulting from mutations of the gene that encodes the lysosomal hydrolase α -galactosidase A, and leads to progressive lysosomal accumulation of globotriaosylceramide (GL-3) and related glycosphingolipids.[1][1] In classically affected male patients ...
David G, Warnock, Michael, Mauer
openaire   +2 more sources

Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY. [PDF]

, 2010
The unparalleled collection of clinical data and biomaterials within the EHDN's REGISTRY can expedite the search for disease modifiers (genetic and environmental) of age at onset and disease progression that could be harnessed for the development of ...
Handley, Olivia J, Landwehrmeyer, G Bernhard, Aileen K Ho, Bisson, Jonathan Ian, Schwenke C, David Craufurd, Dunnett, Stephen B., Handley, Olivia, Investigators of the European Huntington's Disease Network, The, DI MARIA, EMILIO, Craufurd D, Dunnett, SB, Carsten Schwenke, the investigators of the European Huntington's Disease Network, Craufurd, David, Edward Wild, Landwehrmeyer, GB, Busse, Monica, Rosser, Anne Elizabeth, Olivia J Handley, Romano Silvia., Tabrizi SJ, Ho, Aileen K., Wild, E, Landwehrmeyer GB, Craufurd, D, Tabrizi, SJ, Tabrizi, Sarah J., Handley, OJ, Rickards, Hugh, Dunnett, Stephen, Ho, Aileen K, Orth, Michael, Ho, AK, Wild, Edward, Stephen B. Dunnett, Sarah J Tabrizi, Wild, EJ, Landwehrmeyer, G. Bernhard, Naji, Jenny, Landwehrmeyer, G. Bernhard, Wild E, Investigators of the European Huntington's Disease Network, Handley, Olivia J., Orth, M, Ellison-Rose, Lynda, Tabrizi, Sarah J, Price, Kathleen, Ho AK, ABBRUZZESE, GIOVANNI, Schwenke, C, Ho, A, Orth M, Handley OJ, Schwenke, Carsten, Dunnett SB, Dunnett, Stephen B, Michael Orth, G. Bernhard Landwehrmeyer   +59 more
core   +1 more source

Glycosaminoglycans and Fabry's disease

Journal of Biological Research - Bollettino della Società Italiana di Biologia Sperimentale, 2010
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Zinellu E, LEPEDDA, Antonio Junior, Cigliano A, DE MURO, Pierina, Fancellu L, Concolino D, DEIANA, Giovanni Andrea, Sestito S, Moricca MT, Sechi GP, FORMATO, Marilena   +10 more
openaire   +4 more sources

Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy [PDF]

, 2002
Background-Although studies have suggested that "late-onset" hypertrophic cardiomyopathy (HCM) may be caused by sarcomeric protein gene mutations, the cause of HCM in the majority of patients is unknown.
Tei, C, B. Sachdev, Takenaka, T, W. J. Mckenna, Sachdev, B, H. Teraguchi, Elliott, PM, Teraguchi, H, C. Tei, P. Lee, T. Takenaka, McKenna, WJ, Lee, P, Hypertrophic Cardiomyopathy   +13 more
core  

Self-coherent optical transmission using a narrow linewidth tunable slotted fabry-perot laser [PDF]

, 2010
A narrow linewidth slotted Fabry-Perot laser has been employed in a self-coherent optical transmission system. A comparison of the system performance of the tunable slotted laser with a SG-DBR laser has also been ...
Anandarajah, Prince M., Smyth, Frank, K. Shi, Roycroft, Brendan, Corbett, Brian, F. Smyth, B. Roycroft, P. Anandarajah, Reid, Douglas A., Barry, Liam P., D. Reid, B. Corbett, F. H. Peters, Shi, Kai, Peters, F.H., R. Maher, L. P. Barry, Maher, Robert D.   +17 more
core   +3 more sources

Screening of bispecific antibodies during single cell cloning of recombinant Chinese hamster ovary cell lines to improve titer and product quality

Biotechnology Progress, EarlyView.
Abstract Development of therapeutic bispecific antibodies (BsAbs) poses significant manufacturability challenges associated with correct chain pairing and an increased diversity of impurities. Here we address this with a product quality assessment during cell line development (CLD), forgoing the need for genetic characterization during cell line ...
Molly Robinson, Jessica Willmott, Holly Corrigall, Daniela Lega, Joseph Stirling, Vithiya Vimalraj, Mitul Patel, Robyn Emmins   +7 more
wiley   +1 more source

On the diagnosis of Fabry's disease

Acta Dermato-Venereologica, 1975
Fabry's disease is a recessive X-linked inborn error of metabolism due to deficiency of the lysosomal enzyme alpha-galactosidase. The large variety of symptoms may make the diagnosis difficult. A severely afflicted female patient is presented. For several years she had been treated under the diagnosis polyarteritis nodosa until the characteristic ...
S, Wadskov, V, Andersen, T, Kobayasi, J, Søondergaard, S A, Søorensen   +4 more
openaire   +2 more sources