Results 111 to 120 of about 4,096 (231)

Intralesional injection of triamcinolone acetonide is an effective treatment for angiokeratoma of the scrotum: a case report [PDF]

, 2022
Qian Li, Sanquan Zhang, Xin Tian, Jingyao Liang, Xibao Zhang   +4 more
openalex   +1 more source

Fabryjeva bolest - smjernice za dijagnozu i liječenje odraslih bolesnika [Fabry disease - guidelines for diagnosis and management of adult patients] [PDF]

, 2014
Early diagnosis and management of patients with Fabry disease (FD) requires a multidisciplinary approach of several different experts. The aim of this document is to provide health care professionals with guidelines for management of adult patients with ...
Merkler, Marijan, Muačević-Katanec, Diana, Pećin, Ivan, Reiner, Željko, Šimić, Iveta, Šućur, Nediljko   +5 more
core  

Fabry Disease: A Turkish Case with a Novel Mutation and Dermatological Manifestations

Çukurova Üniversitesi Tıp Fakültesi Dergisi, 2015
Fabry disease is a rare, X-linked disease, caused by the deficiency of lysosomal and #945;-galactosidase. Clinical fetaures are; acroparesthesia, unexplained fever, hypohidrosis and angiokeratomas.
Neslihan Onenli Mungan, Fatih Temiz, Berna seker Yilmaz, Mehmet Nuri Ozbek, Mehmet Karakas, Serdar Ceylaner, Ali Kemal Topaloglu, Bilgin Yuksel   +7 more
doaj  

ANGIOKERATOMA: A CASE REPORT

, 2014
M Valluvan, P. Viswanathan, P. V. S. Prasad, Sudhansu Sekhar Mishra   +3 more
openalex   +1 more source

Localized eruptive acquired multiple angiokeratomas with spontaneous resolution in a healthy child

JAAD Case Reports, 2022
Safiya Ahmed Al Shidhani, MD, OMSB, Aisha Al Ali, MD, FRCPC, Abdul Rahman Al-Azri, BA, BDS, MFDS, Fatma Al-Hosni, MD, OMSB   +3 more
doaj   +1 more source

Fabry nephropathy: indications for screening and guidance for diagnosis and treatment by the European Renal Best Practice [PDF]

, 2017
Fabry disease (FD) is an X-linked disorder of glycosphingolipid catabolism resulting in the accumulation of glycolipids including globotriaosylceramide in cells of various tissues resulting in end-organ manifestations.
Cochat, Pierre, Froissart, Roseline, Ortiz, Alberto, Pirson, Yves, Poppe, Bruce, Serra, Andreas, Terryn, Wim, Van Biesen, Wim, Vanholder, Raymond, Wanner, Christoph   +9 more
core  

Inherited, congenital and acquired disorders by hemostasis (vascular, platelet & plasmatic phases) with repercussions [PDF]

, 2014
The hemostasis alterations, either congenital or hereditary origin, and acquired, are circumstances that hinder oral care to patients who suffer them and also generates in the professional who has to attend, high stress. Bleeding control once established
Arrieta Blanco, Juan José, Cabrerizo Merino, María del Carmen, Martínez López, Federico, Oñate Cabrerizo, Daniel, Oñate Sánchez, Ricardo Elías   +4 more
core  

Novel FUCA1 variants in two families, including the first report of a contiguous gene deletion syndrome involving FUCA1 and HMGCL

The Turkish Journal of Pediatrics
Background: Fucosidosis is a rare, autosomal recessive lysosomal storage disorder caused by deficiency of an alpha-L-fucosidase due to pathogenic variants in the FUCA1 gene, leading to the accumulation of fucoglyco-conjugates in the lysosomes of the ...
Mustafa Kılıç, Harun Yıldız, Firdevs Dinçsoy Bir   +2 more
doaj   +1 more source

Lysosomal alpha-N-acetylgalactosaminidase deficiency, the enzymatic defect in angiokeratoma corporis diffusum with glycopeptiduria. [PDF]

, 1991
Tamotsu Kanzaki, A M Wang, Robert J. Desnick   +2 more
openalex   +1 more source

Hemoporfin-mediated photodynamic therapy for angiokeratoma corporis diffusum: A case report

, 2023
Jing Liu, Mengyao Yang, Jun Zhou, Youbao Li, Zhao Wang, Weihui Zeng, Songmei Geng   +6 more
openalex   +2 more sources