Results 21 to 30 of about 306,932 (310)

Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus [PDF]

, 2003
BACKGROUND: Leber’s congenital amaurosis (LCA) accounts for 5% of inherited retinal disease and is usually inherited as an autosomal recessive trait. Genetic and clinical heterogeneity exist.
Inglehearn, C.F., Jafri, H., McKibbin, M.A., Mohamed, M.D., Raashed, Y., Topping, N.C   +5 more
core   +1 more source

A Rare Case of Epidermodysplasia Verruciformis with Non Syndromic Hearing Loss [PDF]

Journal of Clinical and Diagnostic Research
The onset of Non Syndromic Hearing Loss (NSHL) typically occurs without any other symptoms and can vary from person to person, even within the same family. Hearing loss can be unilateral or bilateral and can range from mild to profound degrees of hearing
Soham Meghe, AL Singh, Yash Kashikar, Sudhir Singh   +3 more
doaj   +1 more source

Extending inherited metabolic disorder diagnostics with biomarker interaction visualizations

Orphanet Journal of Rare Diseases, 2023
Background Inherited Metabolic Disorders (IMDs) are rare diseases where one impaired protein leads to a cascade of changes in the adjacent chemical conversions.
Denise N. Slenter, Irene M. G. M. Hemel, Chris T. Evelo, Jörgen Bierau, Egon L. Willighagen, Laura K. M. Steinbusch   +5 more
doaj   +1 more source

Inherited Hyperuricemic Disorders [PDF]

, 2004
Inherited hyperuricemic disorders fall into two major classes, metabolic overproduction of purines and renal tubular undersecretion. The aim was to explore both. Methodology was a combination of personal experience and review of relevant literature.
openaire   +3 more sources

Ataxia in children: early recognition and clinical evaluation [PDF]

, 2017
Background: Ataxia is a sign of different disorders involving any level of the nervous system and consisting of impaired coordination of movement and balance.
Falsaperla, Raffaele, Lubrano, Riccardo, Pavone, Piero, Pavone, Vito, Praticò, Andrea D., Rizzo, Renata, Ruggieri, Martino   +6 more
core   +1 more source

Demography and disorders of German Shepherd Dogs under primary veterinarycare in the UK [PDF]

, 2017
The German Shepherd Dog (GSD) has been widely used for a variety of working roles. However, concerns for the health and welfare of the GSD have been widely aired and there is evidence that breed numbers are now in decline in the UK.
A Agresti, A Egenvall, A Gough, A Kathrani, A Kyriazis, A Peiravan, AJ German, AK Hielm-Björkman, AL Holder, AR Michell, BR Kirkwood, C Kraus, C Selman, CE Griffin, D Clements, D O'Neill, DG O'Neill, DG O'Neill, DG O'Neill, DJ Batchelor, E O'Sullivan, E Sturaro, E Westermarck, EL Buckland, EM Lund, EM Lund, F Galis, G Diesel, GJ Patronek, GK Smith, H Abdi, HE Salvin, J Fatjo, J Summers, JF Summers, JM Dobson, JM Fleming, JM Wahl, JMR Cornelissen, JP Genevois, K Svartberg, K Svartberg, KA Gershman, KA Greer, KE Bergvall, KL Overall, L Asher, L Asher, LJ Kennedy, LM Collins, LM Collins, M Downes, M Petazzoni, MI Benninger, N Ondreka, N Pearce, N Rooney, NJ Robinson, NJ Rooney, P Bateson, P Saetre, P Sandøe, R Packer, R Zeng, RMA Packer, S Breit, SR Urfer, TH Witsberger, VJ Adams, Å Vilson   +69 more
core   +1 more source

Diagnostic and Management Strategies of Bietti Crystalline Dystrophy: Current Perspectives

Clinical Ophthalmology, 2023
Ali Osman Saatci,1 Ferdane Ataş,2 Gökhan Ozan Çetin,3 Mustafa Kayabaşı1 1Department of Ophthalmology, Dokuz Eylul University, Izmir, Turkey; 2Department of Ophthalmology, Çerkezköy State Hospital, Tekirdağ, Turkey; 3Department
Saatci AO, Ataş F, Çetin GO, Kayabaşı M   +3 more
doaj  

Nutritional status of young children with inherited blood disorders in western Kenya. [PDF]

, 2014
To determine the association between a range of inherited blood disorders and indicators of poor nutrition, we analyzed data from a population-based, cross-sectional survey of 882 children 6–35 months of age in western Kenya.
Ruth, LJ, Suchdev, PS, Sullivan, KM, Tsang, BL, Williams, TN   +4 more
core   +1 more source

Inhibitors in Patients with Congenital Bleeding Disorders Other Than Hemophilia [PDF]

, 2017
The most worrying complication of replacement therapy for severe hemophilia A and B is currently the occurrence of inhibitory alloantibodies against infused factor VIII and factor IX, respectively.
Franchini, Massimo, Liumbruno, Giancarlo Maria, Marano, Giuseppe, Mengoli, Carlo, Piccinini, Vanessa, Pupella, Simonetta, Vaglio, Stefania   +6 more
core   +1 more source

Congenital disorders in the cattle population of the Czech Republic

Czech Journal of Animal Science, 2009
The aim of the paper was to analyse congenital disorders in the Czech cattle population in 1986-2001. The offspring of 474 sires - 215 Czech Simmental, 236 Holstein, and 23 beef - were diagnosed with congenital disorders which were unevenly distributed ...
J. Čítek, V. Řehout, J. Hájková
doaj   +1 more source