Results 61 to 70 of about 5,131 (208)

Autosomal recessive cutis laxa type-1 with complex systemic manifestations

Indian Journal of Paediatric Dermatology, 2018
Cutis laxa (CL) is a rare connective tissue disorder characterized by loose, sagging, and redundant skin. Both inherited and acquired forms are known. A 7-year-old boy, presented with loose, sagging skin chiefly over the face, extremities, and skin folds
Shruti Dhanraj Chavan, Ashish Ramchandra Deshmukh, Aniruddha Dharnidhar Gulanikar, Shilpa Satyajeet Pathrikar, Iqbal Mohammad Tariq   +4 more
doaj   +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

Molecular and cellular mechanisms underlying gyrate atrophy: Why is the retina primarily affected?

Acta Ophthalmologica, Volume 103, Issue 7, Page e436-e455, November 2025.
Abstract Gyrate atrophy of the choroid and retina (GACR; OMIM #258870) is a rare early‐onset autosomal recessive disorder, caused by bi‐allelic pathogenic variants in the gene coding for ornithine aminotransferase (OAT) resulting in hyperornithinaemia.
Mark J. N. Buijs, Berith M. Balfoort, Marion M. Brands, Anneloor L. M. A. ten Asbroek, Camiel J. F. Boon, Roselie M. H. Diederen, Corrie Timmer, Margreet A. E. M. Wagenmakers, Hans R. Waterham, Ronald J. A. Wanders, Riekelt H. Houtkooper, Clara D. van Karnebeek, Arthur A. Bergen   +12 more
wiley   +1 more source

Impact of N‐linked glycans on the dual short fibulin/LTBP‐4 axes regulating elastogenesis

The FEBS Journal, Volume 292, Issue 21, Page 5676-5696, November 2025.
Elastic fiber assembly is orchestrated by multiple glycoproteins. We delineate the molecular basis of two key axes involved in elastic fiber formation—LTBP‐4L/fibulin‐4 and LTBP‐4S/fibulin‐5. We show that N‐linked glycans on these glycoproteins regulate their interactions and conformations, both of which are critical aspects in elastic fiber formation.
Valentin Nelea, Heena Kumra, Chae Syng Lee, Daniel Williamson, Hana Hakami, Rong‐Mo Zhang, Neha E. H. Dinesh, Robert Haltiwanger, Dieter P. Reinhardt   +8 more
wiley   +1 more source

Meretojan taudista uutta tietoa kansallisen potilasrekisterin avulla [PDF]

, 2016
Tiedot Meretojan taudin eli suomalaisen perinnöllisen gelsoliiniamyloidoosin taudinkulusta ovat tähän saakka perustuneet suhteellisen pieniin potilassarjoihin.
Atula, Sari, Kiuru-Enari, Sari, Nikoskinen, Tuuli, Schmidt, Eeva-Kaisa   +3 more
core  

Living with cutis laxa: an exploratory study [PDF]

, 2020
Rare diseases, while individually uncommon, collectively may impact up to 10% of the population. This makes rare disease a major global public health issue. Most rare diseases have a genetic etiology.
Solanki, Pooja
core  

EQ-5D in skin conditions: an assessment of validity and responsiveness [PDF]

, 2014
Aims and objectives This systematic literature review aims to assess the reliability, validity and responsiveness of three widely used generic preference-based measures of health-related quality of life (HRQL), i.e., EQ-5D, Health Utility Index 3 (HUI3 ...
AFN Klassen, BF O’donnell, C Moberg, D Feeny, D Papaioannou, D Revicki, DF Cella, E Christophers, E Daudén, GH Guyatt, GR Barton, J Brazier, J Brazier, J Brazier, J Dowie, J Tosh, JE Brazier, John Brazier, K Reich, L Longworth, L Longworth, L Matusiak, Louise Longworth, M Herdman, NICE, NICE, NJ Bansback, P Dolan, P Swinburn, PCM Kerkhof Van De, R Brooks, R Shikiar, R Shikiar, RJ Lasek, S Weiss, SCR Weiss, SJ Walters, T Luger, V Brodszky, Yaling Yang   +39 more
core   +3 more sources

Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature

Epileptic Disorders, Volume 27, Issue 5, Page 745-802, October 2025.
Abstract Although inborn errors of metabolism (IEM) are a rare cause of epilepsy, seizures are a common presentation in these disorders. Seizures in IEM are frequently refractory to conventional anti‐seizure medication and might warrant initiation of specific treatments based on vitamins or dietary modifications or provision of alternative substrates ...
D. Kapoor, S. Sharma, A. Kaminska, R. Nabbout, N. Chemaly, M. Schiff, P. De Lonlay, M. Eisermann   +7 more
wiley   +1 more source

A clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment. [PDF]

, 2017
Megalencephaly and macrocephaly present with a head circumference measurement 2 standard deviations above the age-related mean. However, even if pathologic events resulting in both megalencephaly and macrocephaly may coexist, a distinction between these ...
Corsello G, Falsaperla R, Parano E, Pavone P, Praticò AD, Rizzo R, Ruggieri M   +6 more
core   +1 more source

Congenital Disorder of Glycosylation Following ATP6AP1 Deficiency With Normal Liver Function: A Case Report

Clinical Case Reports, Volume 13, Issue 9, September 2025.
ABSTRACT Congenital disorders of glycosylation (CDG) are a heterogeneous group of inherited metabolic diseases (IMD) characterized by defects in the synthesis and modification of glycoproteins and glycolipids. One of these disorders is ATP6AP1‐CDG, a rare X‐linked disease with approximately 30 cases reported so far. Symptoms associated with ATP6AP1‐CDG
Amirreza Jabbaripour Sarmadian, Babak Abdinia, Kia Seyed Toutounchi, Mohammad Saberi, Shabnam Eskandarzadeh   +4 more
wiley   +1 more source