Results 91 to 100 of about 3,923 (158)

N-glükosüülimise kaasasündinud defektid: kirjanduse ülevaade ja haigusjuhu kirjeldus [PDF]

, 2014
Glükosüülimise kaasasündinud defektid on kiiresti kasvav, erinevaid elundisüsteeme haarav ainevahetushaiguste rühm. Glükosüülimine on valkude modifitseerimise protsess, mille tulemusel sünteesitakse glükoproteiin.
Joost, Kairit, Maipuu, Lea, Vals, Mari-Anne, Õunap, Katrin   +3 more
core   +2 more sources

Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene [PDF]

, 2005
Z. Szabó, Marc Crepeau, Alex Mitchell, Mark J. Stephan, Robert Puntel, Kah Yin Loke, Richard Kirk, Zsolt Urbán   +7 more
openalex   +1 more source

Skin malformations in a neonatal foal tested homozygous positive for Warmblood Fragile Foal Syndrome [PDF]

, 2015
BACKGROUND: Skin malformations that resembled manifestations of Ehlers-Danlos-Syndrome were described in a variety of domestic animals during the last century as cutis hyperelastica, hyperelastosis cutis, dermatosparaxis, dermal/collagen dysplasia ...
Bleul, Ulrich, de Brot, Simone, Jackson, Michelle, Monthoux, Chloé, Walter, Jasmin   +4 more
core   +3 more sources

Clinical Presentation of a Patient with Congenital Cutis Laxa and Abnormal Thyroid Hormone Levels [PDF]

, 2014
Yan Ma, Jinyu Zhang, Chen Wang, Wen Cen, Xin Liu, Wenli Feng   +5 more
openalex   +1 more source

Near-fatal presentation of bilateral pneumothorax in cutis laxa patient: Case report, and review of the literature

Annals of Thoracic Medicine, 2018
Cutis laxa (CL) is a rare connective tissue disease characterized by a loose, wrinkled, and inelastic skin. Here, we report an unusual presentation in a 15-year-old male patient who is a known patient of CL who presented with bilateral pneumothorax.
Waseem M Hajjar, Areej S Alrajeh, Lulwah S Alturki, Sami A Al-Nassar, Adnan W Hajjar   +4 more
doaj   +1 more source

Autosomal recessive cutis laxa type 2B [PDF]

, 2020
INSERM
openalex   +1 more source

Acquired Cutis Laxa

Indian Journal of Dermatology, 2001
A case of acquired cutis laxa is presented for its ...
Sayal S K, Dhillon K S, Das A L, Prasad G K   +3 more
doaj  

Clinical features in adults with acquired cutis laxa: a retrospective review [PDF]

, 2023
Katie A. O’Connell, Morgan Schaefer, Lihi Atzmony, Ruth Ann Vleugels, Keith A. Choate, Avery LaChance, Michelle S. Min   +6 more
openalex   +1 more source

Cutis laxa congénital: à propos d’un cas

The Pan African Medical Journal, 2019
Les « cutis laxa » (CL) sont des affections rares du tissu élastique, caractérisées par une hyperlaxité cutanée. Elles peuvent être congénitales ou acquises.
Aziza El Ouali, Manal Azizi, Siham Dikhaye, Noufissa Benajiba   +3 more
doaj   +1 more source

Dermatoglyphics in patients with oligo/azospermia [PDF]

, 2005
The study of patterns of fingerprints is important in anthropology and medical genetics, chiefly because of their diagnostic usefulness. In the present work, we studied the frequencies of various types of skin ridges of the first phalanx in patients with
Farhud, D.D., Hashemzadeh-Chaleshtori, Morteza., Pour-Jafari, Hamid.   +2 more
core   +2 more sources