Results 81 to 90 of about 1,757 (183)

Lower urinary tract dysfunction in uncommon neurological diseases, Part III: A report of the Neuro-urology Promotion Committee of the International Continence Society

Continence
This is the third manuscript from the Neuro-urology Promotion Committee of the International Continence Society (ICS) discussing uncommon neuro-urological conditions that are not well described in urological literature.
Ryuji Sakakibara, Sanjay Sinha, Stefan De Wachter, Blayne Welk, Desiree M.J. Vrijens, Charalampos Konstantinidis, Christina-Anastasia Rapidi, Luis Miguel Monteiro, Cristiano Mendes Gomes, Marcus John Drake   +9 more
doaj   +1 more source

520 RAPID PRENATAL DIAGNOSIS OF FABRY'S DISEASE [PDF]

, 1978
Robert J. Desnick, Raman M. Reddy
openalex   +1 more source

Fabry disease

Diagnostic and Interventional Imaging, 2015
Daghfous, A., Toledano, E., Kalsoum, E., Tempremant, F., Boulanger, T., Leclerc, X., Pruvo, J.-P.   +6 more
openaire   +3 more sources

Quality of life in patients with Fabry's disease: a cross-sectional study of 86 adults. [PDF]

Cardiovasc Diagn Ther, 2022
Andonian C, Beckmann J, Mayer O, Ewert P, Freiberger A, Huber M, Kaemmerer H, Kurschat C, Lagler F, Nagdyman N, Pieper L, Regenbogen C, Freilinger S.   +12 more
europepmc   +1 more source

First two years of reimbursed enzyme replacement therapy in the treatment of Fabry's disease in Poland

, 2021
Michał Nowicki, Monika Komar, Mariusz Kusztal, Tomasz Liberek, Katarzyna Mizia­‐Stec, Jolanta Małyszko, Katarzyna Muras-Szwedziak, Krzysztof Pawlaczyk, Piotr Podolec, Jarosław Sławek   +9 more
openalex   +3 more sources

Rare Case Report of Angiokeratoma of Tongue: An Uncommon Site

Medical Journal of Dr. D.Y. Patil Vidyapeeth
Angiokeratoma is an uncommon benign vascular lesion characterized by superficial vascular ectasias along with overlying epidermal acanthosis and hyperkeratosis. In 1889, Mibelli documented the first instance of angiokeratoma on the fingers and toes.
Padmakar Bardapurkar, Mangesh Londhe, Yaminy Pradeep Ingale, Rupali Ramakant Bavikar, Charusheela Gore   +4 more
doaj   +1 more source

Genetic heterogeneity of α‐galactosidase in fabry's disease [PDF]

, 1972
Giovanni Romeo, Barton Childs, Barbara R. Migeon   +2 more
openalex   +1 more source

An Atypical Variant of Fabry's Disease with Manifestations Confined to the Myocardium [PDF]

, 1991
Wolfgang von Scheidt, Christine M. Eng, Thomas Fitzmaurice, E Erdmann, Gerhard Hübner, Eckhardt G.J. Olsen, Helen Christomanou, Reinhard Kandolf, David F. Bishop, Robert J. Desnick   +9 more
openalex   +1 more source

PR Interval and the Response to Enzyme-Replacement Therapy for Fabry's Disease [PDF]

, 2003
Stephen Waldek
openalex   +1 more source

Doença de Fabry Fabry disease

Anais Brasileiros de Dermatologia, 2009
A doença de Fabry é enfermidade de armazenamento lisossômico rara, ligada ao cromossomo-X, causada pela deficiência parcial ou completa da enzima alfagalactosidase A. O defeito resulta no acúmulo de globotriaosilceramida no endotélio vascular e tecidos viscerais, sendo a pele, o coração, os rins e o sistema nervoso central os mais afetados.
Paula Boggio, Paula Carolina Luna, María Eugenia Abad, Margarita Larralde   +3 more
openaire   +1 more source