Results 131 to 140 of about 4,533 (250)

FABRY DISEASE: DIAGNOSIS OF A RARE DISORDER

Clinical and Biomedical Research, 2020
Fabry disease (FD) is an X-linked inborn error of glycosphingolipid metabolism due to the deficiency of α-galactosidase A. The progressive accumulation of globotriaosylceramide (Gb3), particularly in the vascular endothelium, leads to renal, cardiac ...
Cristina Netto, Maira Burin, Laura Jardim, Marilyn Tsao, Fernanda Pereira, Ursula Matte, Roberto Giugliani, Elvino Barros, Daiana Porsch, Vagner Milani, Liana Rossato, Ane Nunes   +11 more
doaj  

Efficacy of Stellate Ganglion Block in Cholinergic Urticaria with Acquired Generalized Hypohidrosis

, 2012
Jee Hyun Shin, Dowan Kim, Jong Yeun Yang, Won Il Lee   +3 more
openalex   +2 more sources

Tumor Necrosis Factors and Chemokines in Hair Development [PDF]

, 2012
Several embryonic organs, such as the hair follicle, develop as appendages of the ectoderm, the outermost layer of the embryo. These organs develop as a result of reciprocal tissue interactions between the surface epithelium and the underlying mesenchyme.
Lefebvre, Sylvie
core  

Agenesias dentarias: en busca de las alteraciones genéticas responsables de la falta de desarrollo [PDF]

, 2004
En conjunto, las agenesias dentarias son la malformación cráneofacial más frecuente. Su prevalencia alcanza el 20% en la dentición permanente, y su expresión puede variar desde la ausencia de una sola pieza, generalmente un tercer molar, hasta la de toda
Kolenc Fusé, Francisco Javier
core  

Screening for Fabry disease in patients with ischaemic stroke at young age: the Italian Project on Stroke in Young Adults [PDF]

, 2017
Adami, Alessandro, Banfi, Elena, Bovi, Paolo, Burlina, A., Caria, F., Costa, P., De Giuli, V., Del Sette, Massimo, Di Lisi, Filomena, Gamba, Massimo, Giorli, Elisa, Lodigiani, Corrado, Malferrari, Giovanni, Marcheselli, Simona, Melis, Maurizio, Morotti, A., Musolino, Rossella, Paciaroni, Maurizio, Padovani, A., Pezzini, A, Piras, Valeria, Poli, L., Pugliese, Nicola, Rasura, Maurizia, Silvestrelli, Giorgio, Simone, Anna Maria, Spalloni, Alessandra, Stilo, Cesare, Tancredi, Lucia, Tomelleri, Giampaolo, Toriello, Antonella, Zedde, Marialuisa, Zini, Andrea   +32 more
core   +1 more source

Induced Miliaria (Prickly Heat), Post-Miliarial Hypohidrosis and Some Potential Sequelæ [Abridged] [PDF]

, 1969
Marion B. Sulzberger
openalex   +1 more source

Brother cases of multiple epiphyseal dysplasia with autonomic dysfunction such as hypohidrosis and orthostatic hypotension.

, 1988
Takashi Moritoyo, Isao Kitajima, Masanori Nakagawa, Shuji Izumo, Mitsuhiro Osame, A Igata   +5 more
openalex   +2 more sources

Novel EDAR death domain variants in Thai patients with ectodermal dysplasia: clinical, molecular, and scoping review insights. [PDF]

BMC Oral Health
Thaweesapphithak S, Krasaesin A, Prommanee S, Intarak N, Pongsapipatana N, Sriwattanapong K, Sukarawan W, Fakhruddin KS, Porntaveetus T.   +8 more
europepmc   +1 more source

Cholinergic urticaria associated with acquired hypohidrosis in an HIV-positive patient

, 2002
Francis C Yu, William B. Klaustermeyer
openalex   +1 more source

A classical variant of ectodermal dysplasia: a case report. [PDF]

Pan Afr Med J
Jawade S, Wankhede P, Sharma R, Munjewar P, More V.   +4 more
europepmc   +1 more source