Works matching Angiokeratoma corporis diffusum

Results: 1251

Familial angiokeratoma corporis diffusum without identified enzyme defect.

Published in:

2015

By:

Ying-Yi Lu;
Chun-Ching Lu;
Chieh-Shan Wu;
Chieh-Hsin Wu

Publication type:

Case Study

Angiokeratoma corporis diffusum universale: A rare case report from Nepal.

Published in:

Our Dermatology Online / Nasza Dermatologia Online, 2021, v. 12, n. 2, p. 174, doi. 10.7241/ourd.20212.18

By:

Paudel, Vikash;
Chudal, Deepa

Publication type:

Article

A novel association between angiokeratoma corporis diffusum and acid sphingomyelinase deficiency.

Published in:

Pediatric Dermatology, 2019, v. 36, n. 6, p. 906, doi. 10.1111/pde.13889

By:

Bhoyrul, Bevin;
Wright, David;
Heptinstall, Lesley;
Barski, Robert;
Berry, Ian;
Clark, Sheila

Publication type:

Article

Cutaneous variant of angiokeratoma corporis diffusum: a case report.

Published in:

Journal of Pakistan Association of Dermatologists, 2013, v. 23, n. 3, p. 331

By:

Debbarman, Panchami;
Kumar Mondal, Ashim;
Ranjan Lal, Niharika;
Kumar, Piyush;
Chandra Gharami, Ramesh

Publication type:

Article

Angiokeratoma corporis diffusum without systemic features in a young Kashmiri female: a rare occurrence.

Published in:

Journal of Pakistan Association of Dermatologists, 2013, v. 23, n. 3, p. 327

By:

Hassan, Iffat;
Rather, Parvaiz Anwar;
Aleem, Saima

Publication type:

Article

Fabry's disease manifesting as familial angiokeratoma corporis diffusum in an indian family – A rare occurrence!

Published in:

Indian Journal of Paediatric Dermatology, 2020, v. 21, n. 4, p. 319, doi. 10.4103/ijpd.IJPD_38_19

By:

Kaur, Ishmeet;
Singal, Archana;
Jakhar, Deepak;
Pandhi, Deepika

Publication type:

Article

Angiokeratoma Corporis Diffusum: An Uncommon Case with Suspected Anderson Fabry Disease.

Published in:

Indian Dermatology Online Journal, 2020, v. 11, n. 2, p. 212, doi. 10.4103/idoj.IDOJ_136_19

By:

Vadher, Priyanka;
Agarwal, Pooja;
Mistry, Amit;
Gajjar, Krishna;
Bansal, Nalini;
Neazee, Sabha

Publication type:

Article

Angiokeratoma corporis diffusum: the evolution of a disease entity.

Published in:

1977

By:

Taaffe, A.

Publication type:

journal article

Angiokeratoma corporis diffusum.

Published in:

Indian Pediatrics, 2015, v. 52, n. 2, p. 175, doi. 10.1007/s13312-015-0601-6

By:

Jayavardhana, A.;
Balasubramanian, Pradeep;
Vijayalakshmi, A.

Publication type:

Article

Angiokeratoma corporis diffusum in a patient with Hodgkin lymphoma: a new paraneoplastic skin manifestation?

Published in:

British Journal of Dermatology, 2013, v. 168, n. 6, p. 1351, doi. 10.1111/bjd.12188

By:

Han, F.;
Wang, P.;
Li, Z.;
Zheng, J.H.;
Wang, Q.;
Xu, A.E.;
Wang, Z.M.

Publication type:

Article

Angiokeratoma corporis diffusum with severe acroparesthesia, an endothelial abnormality, and inconspicuous genetic findings.

Published in:

Journal of Cutaneous Pathology, 2022, v. 49, n. 3, p. 293, doi. 10.1111/cup.14154

By:

Harzer, Klaus;
Beck-Wödl, Stefanie;
Haack, Tobias B.

Publication type:

Article

Angiokeratoma corporis diffusum in fucosidosis.

Published in:

1994

By:

George, Soshamma;
Graham-Brown, Robin A. C.

Publication type:

Case Study

Angiokeratoma corporis diffusum (Anderson–Fabry’s disease): a case report.

Published in:

Journal of the European Academy of Dermatology & Venereology, 2000, v. 14, n. 2, p. 127, doi. 10.1046/j.1468-3083.2000.00030.x

By:

Massi, Daniela;
Martinelli, Fabrizio;
Battini, Maria Luisa;
Comin, Camilla Eva;
Franchi, Alessandro;
Gioia, Olga;
Santucci, Marco

Publication type:

Article

SOME FURTHER OBSERVATIONS ON ANGIOKERATOMA CORPORIS DIFFUSUM.

Published in:

British Journal of Dermatology, 1957, v. 69, n. 4, p. 137, doi. 10.1111/j.1365-2133.1957.tb13244.x

By:

Ruiter, M.

Publication type:

Article

HISTOLOGICAL INVESTIGATION OF THE SKIN IN ANGIOKERATOMA CORPORIS DIFFUSUM, WITH PARTICULAR REGARD TO THE ASSOCIATED DISTURBANCE OF PHOSPHATID METABOLISM.

Published in:

British Journal of Dermatology, 1955, v. 67, n. 6, p. 235

By:

J. F. S.

Publication type:

Article

(20) the identification of the carrier state in angiokeratoma corporis diffusum (Anderson-Fabry's disease) by single hair follicle analysis.

Published in:

British Journal of Dermatology, 1979, v. 101, n. 1, p. 106

By:

Gibbs, Dorothy A.;
Goolmali, S.K.;
Spellacy, Elizabeth;
Watts, R.W.E.

Publication type:

Article

Angiokeratomas, not everything is Fabry disease.

Published in:

International Journal of Dermatology, 2019, v. 58, n. 6, p. 713, doi. 10.1111/ijd.14330

By:

Cuestas, Daniel;
Perafan, Alejandra;
Forero, Yency;
Bonilla, Juan;
Velandia, Alexander;
Gutierrez, Ana;
Motta, Adriana;
Herrera, Hugo;
Rolon, Mariam

Publication type:

Article

Capillary malformations: a classification using specific names for specific skin disorders.

Published in:

Journal of the European Academy of Dermatology & Venereology, 2015, v. 29, n. 12, p. 2295, doi. 10.1111/jdv.13147

By:

Happle, R.

Publication type:

Article

ANGIOKERATOMA CORPORIS DIFFUSUM.

Published in:

British Journal of Dermatology, 1958, v. 70, n. 10, p. 354, doi. 10.1111/j.1365-2133.1958.tb13796.x

By:

Wallace, H. J.

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

Fucosidosis—Clinical Manifestation, Long-Term Outcomes, and Genetic Profile—Review and Case Series.

Published in:

Genes, 2020, v. 11, n. 11, p. 1383, doi. 10.3390/genes11111383

By:

Stepien, Karolina M.;
Ciara, Elżbieta;
Jezela-Stanek, Aleksandra

Publication type:

Article

Angiokeratoma corporis diffusum without impairment of renal function.

Published in:

1980

By:

Goodfellow, Angela;
Williams, R. M.

Publication type:

Case Study

(63) Angiokeratoma corporis diffusum.

Published in:

British Journal of Dermatology, 1991, v. 125, p. 83, doi. 10.1111/j.1365-2133.1991.tb05532.x

By:

Tatnall, F. M.;
Leigh, I. M.

Publication type:

Article

(3) Angiokeratoma corporis diffusum (Anderson-Fabry disease).

Published in:

1983

By:

Staughton, R. C. D.

Publication type:

Case Study

Fabry's Disease (Angiokeratoma Corporis Diffusum).

Published in:

Annals of Internal Medicine, 1965, v. 63, n. 6, p. 1059, doi. 10.7326/0003-4819-63-6-1059

By:

Dempsey, Hugh;
Hartley, M.W.;
Carroll, John;
Balint, John;
Miller, R.E.;
Frommeyer Jr., W.B.

Publication type:

Article

Idiopathic angiokeratoma corporis diffusum.

Published in:

Clinical & Experimental Dermatology, 1997, v. 22, n. 4, p. 205, doi. 10.1111/j.1365-2230.1997.tb01064.x

By:

Fimiani, M.;
Mazzatenta, C.;
Rubegni, P.;
Andreassi, L.

Publication type:

Article

Angiokeratoma corporis diffusum in a patient with normal enzyme activities and Turner's syndrome.

Published in:

Clinical & Experimental Dermatology, 1992, v. 17, n. 1, p. 56, doi. 10.1111/j.1365-2230.1992.tb02537.x

By:

Gasparini, G.;
Sarchi, G.;
Cavicchini, S.;
Bertagnolio, B.

Publication type:

Article

Isolated angiokeratomas of the tongue: A rare entity.

Published in:

2019

By:

Hamid, Rizwan;
Chalkoo, Altaf H.;
Singh, Inderpreet;
Wani, Suhail;
Bilal, Sheikh

Publication type:

journal article

Long‐pulsed 1064‐nm Nd:YAG laser in the treatment of multiple vulvar angiokeratomas.

Published in:

Dermatologic Therapy, 2020, v. 33, n. 6, p. 1, doi. 10.1111/dth.13860

By:

Bimbi, César;
Dalla Lana, Daiane Flores;
Koumoundourou, Dimitra;
Kyriakou, Georgia

Publication type:

Article

Angiokeratoma corporis diffusum in a Spanish patient with aspartylglucosaminuria.

Published in:

British Journal of Dermatology, 2002, v. 147, n. 4, p. 760, doi. 10.1046/j.1365-2133.2002.04827.x

By:

Vargas-Díez, E.;
Chabás, A.;
Coll, M.J.;
Sánchez-Pérez, J.;
García-Díez, A.;
Fernández-Herrera, J.M.

Publication type:

Article

A new case of alpha-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum, with Meniere's syndrome and without mental retardation.

Published in:

British Journal of Dermatology, 2001, v. 144, n. 2, p. 363, doi. 10.1046/j.1365-2133.2001.04028.x

By:

Kodama, K.;
Kobayashi, H.;
Abe, R.;
Ohkawara, A.;
Yoshii, N.;
Yotsumoto, S.;
Fukushige, T.;
Nagatsuka, Y.;
Hirabayashi, Y.;
Kanzaki, T.

Publication type:

Article

Solitary angiokeratoma as unusual presentation of Fabry disease: a case report.

Published in:

International Journal of Dermatology, 2023, v. 62, n. 6, p. e346, doi. 10.1111/ijd.16596

By:

Ganjei, Zakiye;
Rahmati, Rahem;
Panah, Mohammad Yazdan;
Meidani, Fatemeh Zari;
Mosavi, Azam

Publication type:

Article

Rare Case Report of Angiokeratoma of Tongue: An Uncommon Site.

Published in:

Medical Journal of Dr. D.Y. Patil Vidyapeeth, 2024, v. 17, p. S206, doi. 10.4103/mjdrdypu.mjdrdypu_577_23

By:

Bardapurkar, Padmakar;
Londhe, Mangesh;
Ingale, Yaminy Pradeep;
Bavikar, Rupali Ramakant;
Gore, Charusheela

Publication type:

Article

Kasuistik: Angiokeratoma corporis diffusum.

Published in:

MMW: Fortschritte der Medizin, 2023, v. 165, n. 1, p. 27, doi. 10.1007/s15006-023-2365-6

By:

Köhn, Frank-Michael

Publication type:

Article

Kapillarmikroskopie bei Angiokeratoma corporis diffusum Stellungnahme zur Arbeit von J. Frank, W. Jansen-Genzel, A. Lentner und V. Wienert Angiokeratoma corporis diffusum universale (Morbus Fabry) Hautarzt (1996) 47:776–779.

Published in:

Der Hautarzt, 1997, v. 48, n. 7, p. 505, doi. 10.1007/s001050050620

By:

Gerbig, Andreas W.;
Hunziker, Thomas

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