Works matching Angiokeratoma corporis diffusum

Results: 1264

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

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

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 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: 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 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

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

(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

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

Angiokeratoma corporis diffusum without impairment of renal function.

Published in:

1980

By:

Goodfellow, Angela;
Williams, R. M.

Publication type:

Case Study

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.

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

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

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

(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

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

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

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

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

Fabry disease, do we think enough about this multisystemic disorder? -- A presentation of three cases in a Serbian family.

Published in:

Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2012, v. 69, n. 7, p. 620, doi. 10.2298/VSP1207620S

By:

Sakač, Dejan;
Koraćević, Goran;
Pavlica, Tatjana;
Sekulić, Slobodan

Publication type:

Article

In vivo demonstration of globotriaosylceramide brain accumulation in Fabry Disease using MR Relaxometry.

Published in:

Neuroradiology, 2024, v. 66, n. 9, p. 1593, doi. 10.1007/s00234-024-03380-5

By:

Pontillo, Giuseppe;
Tranfa, Mario;
Scaravilli, Alessandra;
Monti, Serena;
Capuano, Ivana;
Riccio, Eleonora;
Rizzo, Manuela;
Brunetti, Arturo;
Palma, Giuseppe;
Pisani, Antonio;
Cocozza, Sirio

Publication type:

Article

A Rapid and Simple UHPLC-MS/MS Method for Quantification of Plasma Globotriaosylsphingosine (lyso-Gb3).

Published in:

Molecules, 2021, v. 26, n. 23, p. 7358, doi. 10.3390/molecules26237358

By:

Perrone, Alessandro;
Mohamed, Susan;
Donadio, Vincenzo;
Liguori, Rocco;
Contin, Manuela

Publication type:

Article

Erratum.

Published in:: 2018
Publication type:: Correction Notice

A Novel Missense GLA Mutation (p.G35V) Detected in Hemodialysis Screening Leads to Severe Systemic Manifestations of Fabry Disease in Men and Women.

Published in:

Respiration, 2018, v. 95, n. 2, p. 147, doi. 10.1159/000479895

By:

Veloso, Valeria Soares Pigozzi;
Ataides, Thiago Lacerda;
Canziani, Maria Eugênia Fernandes;
Veloso, Mariana Pigozzi;
da Silva, Nilzio Antônio;
Barreto, Daniela Veit;
Pereira, Edna Regina Silva;
de Moura, Luiz Antonio Ribeiro;
Barreto, Fellype Carvalho

Publication type:

Article

Pulmonary Involvement in Adult Patients with Inborn Errors of Metabolism.

Published in:

Respiration, 2017, v. 94, n. 1, p. 2, doi. 10.1159/000475762

By:

Tran, Christel;
Barbey, Frederic;
Lazor, Romain;
Bonafé, Luisa

Publication type:

Article

DEEPre: sequence-based enzyme EC number prediction by deep learning.

Published in:

Bioinformatics, 2018, v. 34, n. 5, p. 760, doi. 10.1093/bioinformatics/btx680

By:

Li, Yu;
Wang, Sheng;
Umarov, Ramzan;
Xie, Bingqing;
Fan, Ming;
Li, Lihua;
Gao, Xin

Publication type:

Article

Evaluation of echocardiographic findings of fabry patients: A single center experience.

Published in:

Annals of Medical Research, 2020, v. 27, n. 2, p. 678, doi. 10.5455/annalsmedres.2019.12.875

By:

Cakar, Nafiye Emel;
Barman, Hasan Ali

Publication type:

Article

The association of epicardial fat thickness and disease severity among Fabry patients.

Published in:

Annals of Medical Research, 2019, v. 26, n. 9, p. 1947, doi. 10.5455/annalsmedres.2019.05.272

By:

Altunbas, Gokhan;
Sayiner, Zeynel Abidin;
Ozkaya, Mesut;
Sucu, Murat

Publication type:

Article

Stomatologic Aspects of Cutaneous Diseases Angiokeratoma Corporis Diffusum (Fabry's Syndrome).

Published in:

Journal of Dermatologic Surgery & Oncology, 1979, v. 5, n. 3, p. 180, doi. 10.1111/j.1524-4725.1979.tb00639.x

By:

Gorlin, Robert J.;
Sedano, Heddie O.

Publication type:

Article

In Vivo Delivery of Therapeutic Molecules by Transplantation of Genome-Edited Induced Pluripotent Stem Cells.

Published in:

Cell Transplantation, 2023, v. 32, p. 1, doi. 10.1177/09636897231173734

By:

Nakajima, Ittetsu;
Tsukimura, Takahiro;
Ono, Terumi;
Shiga, Tomoko;
Shitara, Hiroshi;
Togawa, Tadayasu;
Sakuraba, Hitoshi;
Miyaoka, Yuichiro

Publication type:

Article

Genetically Modified Cell Transplantation Through Macroencapsulated Spheroids with Scaffolds to Treat Fabry Disease.

Published in:

Cell Transplantation, 2021, v. 30, p. 1, doi. 10.1177/09636897211060269

By:

Kami, Daisuke;
Suzuki, Yosuke;
Yamanami, Masashi;
Tsukimura, Takahiro;
Togawa, Tadayasu;
Sakuraba, Hitoshi;
Gojo, Satoshi

Publication type:

Article

Pericardial effusion in the course of Fabry disease cardiomyopathy: a case report.

Published in:

European Heart Journal Case Reports, 2021, v. 5, n. 10, p. 1, doi. 10.1093/ehjcr/ytab407

By:

Tsuruda, Toshihiro;
Higashi, Yoshimasa;
Gi, Toshihiro;
Nakao, Shoichiro

Publication type:

Article

Corrigendum to: Rapidly progressive aortic stenosis treated with transcatheter aortic valve implantation in a patient with Fabry disease: a case report.

Published in:: 2021
Publication type:: Correction Notice