Works matching DE "ANGIOKERATOMA corporis diffusum"

Results: 1198

Parkinson's Disease and Fabry Disease: Clinical, Biochemical and Neuroimaging Analysis of Three Pedigrees.

Published in:

Journal of Parkinson's Disease, 2020, v. 10, n. 1, p. 141, doi. 10.3233/JPD-191704

By:

Gago, Miguel Fernandes;
Azevedo, Olga;
Guimarães, Andreia;
Teresa Vide, Ana;
Lamas, Nuno J.;
Oliveira, Tiago Gil;
Gaspar, Paulo;
Bicho, Estela;
Miltenberger-Miltenyi, Gabriel;
Ferreira, Joaquim;
Sousa, Nuno

Publication type:

Article

Percutaneous intramyocardial septal radiofrequency ablation for a Fabry disease patient.

Published in:

European Heart Journal - Cardiovascular Imaging, 2025, v. 26, n. 6, p. 1081, doi. 10.1093/ehjci/jeaf060

By:

Yin, Jin-Lei;
Yang, Shao-Hua;
Yang, Fan;
Li, Jing;
Zhao, Yu-Jie

Publication type:

Article

Multimodal dynamic retinal vessel analysis offers new insights in microvascular defects in Fabry's disease.

Published in:

Scientific Reports, 2025, v. 15, n. 1, p. 1, doi. 10.1038/s41598-025-03020-9

By:

Assaf, Abdelrahman;
Kotliar, Konstantin;
Schmidt-Trucksäss, Arno;
Lanzl, Ines

Publication type:

Article

Fabry disease in Argentina: Clinical, Biochemical and Molecular Correlation in all reported GLA variants.

Published in:

Medicina (Buenos Aires), 2025, v. 85, n. 2, p. 322

By:

Politei, Juan;
Ceci, Romina;
Procopio, Domingo;
Silvestroff, Lucas;
Valdez, Rita;
Rozenfeld, Paula A.

Publication type:

Article

Fabry disease in Argentina: Clinical, Biochemical and Molecular Correlation in all reported GLA variants.

Published in:

Medicina (Buenos Aires), 2025, v. 85, n. 2, p. 322

By:

Politei, Juan;
Ceci, Romina;
Procopio, Domingo;
Silvestroff, Lucas;
Valdez, Rita;
Rozenfeld, Paula A.

Publication type:

Article

Transcriptomic Approach in Understanding Fabry Nephropathy: A Review of the Literature and Proof-of-Concept.

Published in:

Genes, 2025, v. 16, n. 5, p. 601, doi. 10.3390/genes16050601

By:

Breznik, Nika;
Levstek, Tina;
Vujkovac, Bojan;
Cokan Vujkovac, Andreja;
Trebušak Podkrajšek, Katarina

Publication type:

Article

Updated Gene Therapy for Renal Inborn Errors of Metabolism.

Published in:

Genes, 2025, v. 16, n. 5, p. 516, doi. 10.3390/genes16050516

By:

Hergenrother, Sean;
Husein, Mustafa;
Thompson, Cole;
Kalina, Ethan;
Raina, Rupesh

Publication type:

Article

Advancing Therapeutic Strategies for Nonsense‐Related Diseases: From Small Molecules to Nucleic Acid‐Based Innovations.

Published in:

IUBMB Life, 2025, v. 77, n. 5, p. 1, doi. 10.1002/iub.70027

By:

Ricci, Davide;
Cruciata, Ilenia;
Fiduccia, Ignazio;
Vitale, Emanuele;
Corrao, Federica;
Branchini, Alessio;
Carollo, Pietro Salvatore;
Pibiri, Ivana;
Lentini, Laura

Publication type:

Article

Fabry disease in Serbia -- current status and future perspectives.

Published in:

Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2022, v. 79, n. 11, p. 1142, doi. 10.2298/VSP200228071C

By:

Ćelić, Dejan;
Božić, Dušan;
Ilić, Tatjana;
Knežević, Violeta;
Golubović, Sonja;
Živković, Siniša;
Ljubičić, Bojana;
Naumović, Radomir;
Mitić, Igor

Publication type:

Article

Reduced hip bone mineral density is associated with high levels of calciprotein particles in patients with Fabry disease.

Published in:

Osteoporosis International, 2022, v. 33, n. 8, p. 1783, doi. 10.1007/s00198-022-06420-z

By:

Bruell, S.;
Nicholls, K. M.;
Hewitson, T. D.;
Talbot, A. S.;
Holt, S. G.;
Smith, E. R.;
Ruderman, I.

Publication type:

Article

An Atypical Presentation of Raynaud's Disease.

Published in:

2019

By:

Viswanath, Omar;
Peck, Jacquelin;
Gill, Jatinder S.;
Gill, Jatinder S

Publication type:

journal article

Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 3, doi. 10.3390/ijns10010003

By:

Gragnaniello, Vincenza;
Cazzorla, Chiara;
Gueraldi, Daniela;
Puma, Andrea;
Loro, Christian;
Porcù, Elena;
Stornaiuolo, Maria;
Miglioranza, Paolo;
Salviati, Leonardo;
Burlina, Alessandro P.;
Burlina, Alberto B.

Publication type:

Article

Newborn Screening for Fabry Disease: Current Status of Knowledge.

Published in:

International Journal of Neonatal Screening (IJNS), 2023, v. 9, n. 2, p. 31, doi. 10.3390/ijns9020031

By:

Gragnaniello, Vincenza;
Burlina, Alessandro P.;
Commone, Anna;
Gueraldi, Daniela;
Puma, Andrea;
Porcù, Elena;
Stornaiuolo, Maria;
Cazzorla, Chiara;
Burlina, Alberto B.

Publication type:

Article

Fabry Hastalarında Maküler İç Retina Tabakalarının Optik Koherans Tomografi ile Değerlendirilmesi.

Published in:

MN Opthalmology / MN Oftalmoloji, 2023, v. 30, n. 4, p. 202

By:

BİTİRGEN, Gülfidan;
TÜRKMEN, Kültigin;
TEKE, Türkan Özge

Publication type:

Article

Extensive angiokeratoma circumscriptum - successful treatment with 595-nm variable-pulse pulsed dye laser and 755-nm long-pulse pulsed alexandrite laser.

Published in:

Journal of Cosmetic & Laser Therapy, 2016, v. 18, n. 3, p. 134, doi. 10.3109/14764172.2015.1114643

By:

Baumgartner, Ján;
Šimaljaková, Mária;
Babál, Pavel

Publication type:

Article

A case of solitary angiokeratoma successfully treated with a 1064-nm long-pulsed Nd:YAG laser.

Published in:

Journal of Cosmetic & Laser Therapy, 2015, v. 17, n. 2, p. 93, doi. 10.3109/14764172.2014.968585

By:

Kutlubay, Zekayi;
Gökler, Gökhan;
Küçüktaş, Murat;
Engın, Burhan;
Serdaroglu, Server

Publication type:

Article

Determination of Gb3 and Lyso-Gb3 in Fabry Disease-Affected Patients by LC-MRM/MS.

Published in:

Separations (2297-8739), 2024, v. 11, n. 8, p. 239, doi. 10.3390/separations11080239

By:

Battaglia, Gennaro;
Pinto, Gabriella;
Fontanarosa, Carolina;
Spinelli, Michele;
Illiano, Anna;
Serpico, Stefania;
Chiariotti, Lorenzo;
Risoluti, Roberta;
Materazzi, Stefano;
Amoresano, Angela

Publication type:

Article

FABRY DISEASE PRESENTING AS AUTOIMMUNE RHEUMATIC DISEASE.

Published in:

2018

By:

Hannah, Jennifer;
Sangle, Shirish;
D'Cruz, David

Publication type:

Case Study

Echocardiography-guided percutaneous intramyocardial septal radiofrequency ablation procedure for the treatment of Fabry disease: a case report.

Published in:

2025

By:

Shi, Xiaohe;
Yang, Fan;
Wang, Jing;
Han, Chao;
Liu, Liwen

Publication type:

Case Study

The role of genetic testing in diagnosing Fabry's disease and its overlapping with cardiomyopathies: a case series.

Published in:

European Heart Journal Case Reports, 2024, v. 8, n. 8, p. 1, doi. 10.1093/ehjcr/ytae375

By:

Suppah, Mustafa;
Narayanasamy, Hema;
Nelson, James;
Alsidawi, Said

Publication type:

Article

Complex management of Fabry cardiomyopathy: a case report on the use of alcohol septal ablation and chaperone therapy.

Published in:

European Heart Journal Case Reports, 2024, v. 8, n. 7, p. 1, doi. 10.1093/ehjcr/ytae317

By:

Neculae, Gabriela;
Predescu, Lucian;
Popa, Oana;
Rusu, Elena;
Jurcut, Ruxandra

Publication type:

Article

Optical Coherence Tomography Angiography Findings in Fabry Disease.

Published in:

Journal of Clinical Medicine, 2019, v. 8, n. 4, p. 528, doi. 10.3390/jcm8040528

By:

Cennamo, Gilda;
Di Maio, Laura Giovanna;
Montorio, Daniela;
Tranfa, Fausto;
Russo, Camilla;
Pontillo, Giuseppe;
Cocozza, Sirio;
Esposito, Roberta;
Di Risi, Teodolinda;
Imbriaco, Massimo;
Spinelli, Letizia;
Riccio, Eleonora;
Pisani, Antonio

Publication type:

Article

Oxidative Stress and Cardiovascular-Renal Damage in Fabry Disease: Is There Room for a Pathophysiological Involvement?

Published in:

Journal of Clinical Medicine, 2018, v. 7, n. 11, p. 409, doi. 10.3390/jcm7110409

By:

Ravarotto, Verdiana;
Simioni, Francesca;
Carraro, Gianni;
Bertoldi, Giovanni;
Pagnin, Elisa;
Calò, Lorenzo A.

Publication type:

Article

When arthralgia is not arthritis.

Published in:

2016

By:

Politei, Juan;
Remondino, Graciela;
Heguilen, Ricardo;
Wallace, Eric;
Durand, Consuelo;
Schenone, Andrea

Publication type:

Case Study

Aseptic meningitis and Fabry disease.

Published in:

Annals of Clinical & Translational Neurology, 2024, v. 11, n. 6, p. 1430, doi. 10.1002/acn3.52043

By:

Montardi, Camille;
Gaudemer, Augustin;
Zuber, Mathieu;
Vuillemet, Francis;
Alexandra, Jean‐François;
Lidove, Olivier;
Mauhin, Wladimir

Publication type:

Article

Enzymatic properties and clinical associations of serum alpha‐galactosidase A in Parkinson's disease.

Published in:

Annals of Clinical & Translational Neurology, 2023, v. 10, n. 9, p. 1662, doi. 10.1002/acn3.51856

By:

Mizutani, Yasuaki;
Nawashiro, Kazuki;
Ohdake, Reiko;
Tatebe, Harutsugu;
Shima, Sayuri;
Ueda, Akihiro;
Yoshimoto, Junichiro;
Ito, Mizuki;
Tokuda, Takahiko;
Mutoh, Tatsuro;
Watanabe, Hirohisa

Publication type:

Article

Prevalence and predictors of bradyarrhythmias requiring permanent pacing in patients with Anderson–Fabry disease.

Published in:

Journal of Cardiovascular Electrophysiology, 2022, v. 33, n. 5, p. 1072, doi. 10.1111/jce.15409

By:

Tassetti, Luigi;
Fumagalli, Carlo;
Argirò, Alessia;
Zampieri, Mattia;
Gori, Martina;
Verrillo, Federica;
Zocchi, Chiara;
Cappelli, Francesco;
Olivotto, Iacopo

Publication type:

Article

Generalized anhidrosis with preganglionic sudomotor dysfunction in Fabry disease: a case report.

Published in:

2021

By:

Cho, Eun Bin;
Kim, Seung Joo;
Yang, Tae-Won;
Jeong, Heejeong;
Yoon, Changhyo;
Jung, Seunguk;
Park, Ki-Jong

Publication type:

Letter

Lyso-globotriaosylsphingosine induces endothelial dysfunction via autophagy-dependent regulation of necroptosis.

Published in:

Korean Journal of Physiology & Pharmacology, 2023, v. 27, n. 3, p. 231, doi. 10.4196/kjpp.2023.27.3.231

By:

Ae-Rang Hwang;
Seonghee Park;
Chang-Hoon Woo

Publication type:

Article

Case report of concurrent Fabry disease and amyotrophic lateral sclerosis supports a common pathway of pathogenesis.

Published in:

2016

By:

Beer, Alexander M.;
Cooper-Knock, Johnathan;
Fletcher, Sakina;
Brown-Wright, Sian Heledd;
Nandakumar, T Pisharam;
Shaw, Pamela J.

Publication type:

Case Study

Distinctive Signs of Disease as Deterrents for the Endothelial Function: A Systematic Review.

Published in:

Metabolites (2218-1989), 2023, v. 13, n. 3, p. 430, doi. 10.3390/metabo13030430

By:

Nappi, Francesco;
Avtaar Singh, Sanjeet Singh

Publication type:

Article

Metabolic Fingerprinting of Fabry Disease: Diagnostic and Prognostic Aspects.

Published in:

Metabolites (2218-1989), 2022, v. 12, n. 8, p. 703, doi. 10.3390/metabo12080703

By:

Rocchetti, Maria Teresa;
Spadaccino, Federica;
Catalano, Valeria;
Zaza, Gianluigi;
Stallone, Giovanni;
Fiocco, Daniela;
Netti, Giuseppe Stefano;
Ranieri, Elena

Publication type:

Article

Extracellular Vesicles as Tools for Crossing the Blood–Brain Barrier to Treat Lysosomal Storage Diseases.

Published in:

2025

By:

Lerussi, Giovanni;
Villagrasa-Araya, Verónica;
Moltó-Abad, Marc;
del Toro, Mireia;
Pintos-Morell, Guillem;
Seras-Franzoso, Joaquin;
Abasolo, Ibane

Publication type:

Literature Review

Anderson–Fabry Disease: Focus on Ophthalmological Implications.

Published in:

Life (2075-1729), 2024, v. 14, n. 12, p. 1531, doi. 10.3390/life14121531

By:

Giovannetti, Francesca;
D'Andrea, Mattia;
Bracci, Federico;
Frustaci, Andrea;
Chimenti, Cristina;
Mangiantini, Pietro;
Lambiase, Alessandro;
Marenco, Marco

Publication type:

Article

Right Ventricular Myocardial Involvement in Anderson–Fabry Disease at Diagnosis: Evaluation with Three-Dimensional Strain Imaging.

Published in:

Life (2075-1729), 2023, v. 13, n. 7, p. 1571, doi. 10.3390/life13071571

By:

Pucci, Martina;
Iadevaia, Velia;
Gammaldi, Vittoria;
Iervolino, Adelaide;
Capece, Luca Maria;
Sciascia, Domenico;
Cuomo, Vittoria;
Iacono, Marina;
Paoletta, Daniele;
Santoro, Ciro;
Esposito, Roberta

Publication type:

Article

Long-Term Monitoring of Cardiac Involvement under Migalastat Treatment Using Magnetic Resonance Tomography in Fabry Disease.

Published in:

Life (2075-1729), 2023, v. 13, n. 5, p. 1213, doi. 10.3390/life13051213

By:

Gatterer, Constantin;
Beitzke, Dietrich;
Graf, Senta;
Lenz, Max;
Sunder-Plassmann, Gere;
Mann, Christopher;
Ponleitner, Markus;
Manka, Robert;
Fritschi, Daniel;
Krayenbuehl, Pierre-Alexandre;
Kamm, Philipp;
Dormond, Olivier;
Barbey, Frédéric;
Monney, Pierre;
Nowak, Albina

Publication type:

Article

Correction to: Reduction in kidney function decline and risk of severe clinical events in agalsidase beta–treated Fabry disease patients: a matched analysis from the Fabry Registry.

Published in:: Clinical Kidney Journal, 2024, v. 17, n. 10, p. 1, doi. 10.1093/ckj/sfae304
Publication type:: Article

Reduction in kidney function decline and risk of severe clinical events in agalsidase beta–treated Fabry disease patients: a matched analysis from the Fabry Registry.

Published in:

Clinical Kidney Journal, 2024, v. 17, n. 8, p. 1, doi. 10.1093/ckj/sfae194

By:

Batista, Julie L;
Hariri, Ali;
Maski, Manish;
Richards, Susan;
Gudivada, Badari;
Raynor, Lewis A;
Ponce, Elvira;
Wanner, Christoph;
Desnick, Robert J

Publication type:

Article

Fabry disease with atypical phenotype identified by massively parallel sequencing in early-onset kidney failure.

Published in:

Clinical Kidney Journal, 2023, v. 16, n. 4, p. 722, doi. 10.1093/ckj/sfac269

By:

Haan, Amber de;
Morel, Chantal F;
Eijgelsheim, Mark;
Jong, Margriet F C de;
Broekroelofs, Jan;
Vogt, Liffert;
Knoers, Nine V A M;
Borst, Martin H de

Publication type:

Article

Relapsing minimal change disease superimposed on late-onset p.N215S Fabry nephropathy.

Published in:

Clinical Kidney Journal, 2022, v. 15, n. 1, p. 171, doi. 10.1093/ckj/sfab148

By:

Salerno, Fabio R;
Roggero, Letizia;
Rossi, Federica;
Binaggia, Agnese;
Bertoli, Silvio;
Pieruzzi, Federico

Publication type:

Article

Myeloid bodies caused by COQ2 mutation: a case of concurrent COQ2 nephropathy and IgA nephropathy.

Published in:

Clinical Kidney Journal, 2021, v. 14, n. 6, p. 1697, doi. 10.1093/ckj/sfab043

By:

Ni, Hai-Feng;
Yang, Yan;
Li, Chun-Qing;
Zhou, Tong-Zhou;
Liu, Bi-Cheng;
Wang, Bin

Publication type:

Article

Agalsidase beta treatment slows estimated glomerular filtration rate loss in classic Fabry disease patients: results from an individual patient data meta-analysis.

Published in:

Clinical Kidney Journal, 2021, v. 14, n. 4, p. 1136, doi. 10.1093/ckj/sfaa065

By:

Ortiz, Alberto;
Kanters, Steve;
Hamed, Alaa;
DasMahapatra, Pronabesh;
Poggio, Eugene;
Maski, Manish;
Aguiar, Mario;
Ponce, Elvira;
Jansen, Jeroen P;
Ayers, Dieter;
Goldgrub, Rachel;
Desnick, Robert J

Publication type:

Article

Fabry disease and COVID-19: international expert recommendations for management based on real-world experience.

Published in:

Clinical Kidney Journal, 2020, v. 13, n. 6, p. 913, doi. 10.1093/ckj/sfaa227

By:

Laney, Dawn A;
Germain, Dominique P;
Oliveira, João Paulo;
Burlina, Alessandro P;
Cabrera, Gustavo Horacio;
Hong, Geu-Ru;
Hopkin, Robert J;
Niu, Dau-Ming;
Thomas, Mark;
Trimarchi, Hernán;
Wilcox, William R;
Politei, Juan Manuel;
Ortiz, Alberto

Publication type:

Article

FAbry STabilization indEX (FASTEX): an innovative tool for the assessment of clinical stabilization in Fabry disease.

Published in:

Clinical Kidney Journal, 2016, v. 9, n. 5, p. 739, doi. 10.1093/ckj/sfw082

By:

Mignani, Renzo;
Pieruzzi, Federico;
Berri, Francesco;
Burlina, Alessandro;
Chinea, Benito;
Gallieni, Maurizio;
Pieroni, Maurizio;
Salviati, Alessandro;
Spada, Marco

Publication type:

Article

Curvilinear bodies in hydroxychloroquine-induced renal phospholipidosis resembling Fabry disease.

Published in:

Clinical Kidney Journal, 2013, v. 6, n. 5, p. 533, doi. 10.1093/ckj/sft089

By:

Costa, Rui M.;
Martul, Eduardo V.;
Reboredo, Juan M.;
Cigarrán, Secundino

Publication type:

Article

Previously Unidentified Gene Variation Associated with Fabry Disease: The Impact on One Family.

Published in:

Case Reports in Nephrology, 2020, p. 1, doi. 10.1155/2020/8899703

By:

Vanga, Amaresh R.;
Schrier Vergano, Samantha A.;
Kowalewska, Jolanta;
McCune, Thomas R.

Publication type:

Article

Early Renal Involvement in a Girl with Classic Fabry Disease.

Published in:

Case Reports in Nephrology, 2017, p. 1, doi. 10.1155/2017/9543079

By:

Perretta, Fernando;
Antongiovanni, Norberto;
Jaurretche, Sebastián

Publication type:

Article

Hypohidrosis: an early clue in the diagnosis of Fabry disease.

Published in:

Clinical & Experimental Dermatology, 2015, v. 40, n. 4, p. 444, doi. 10.1111/ced.12501

By:

Jung, S.‐E.;
Kim, Y. C.

Publication type:

Article

Pseudoacromegalic facial features in Fabry disease.

Published in:

Clinical & Experimental Dermatology, 2013, v. 38, n. 2, p. 137, doi. 10.1111/j.1365-2230.2012.04420.x

By:

Hogarth, V.;
Hughes, D.;
Orteu, C. H.

Publication type:

Article

Fabry disease in children: a federal screening programme in Russia.

Published in:

2017

By:

Namazova-Baranova, Leyla;
Baranov, Alexander;
Pushkov, Aleksander;
Savostyanov, Kirill;
Namazova-Baranova, Leyla Seymurovna;
Baranov, Alexander Alexandrovich;
Pushkov, Aleksander Alekseevich;
Savostyanov, Kirill Victorovich

Publication type:

journal article