Results 21 to 30 of about 143,066 (307)

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

Thrombosis in Inherited Fibrinogen Disorders [PDF]

Transfusion Medicine and Hemotherapy, 2017
Although inherited fibrinogen disorders (IFD) are primarily considered to be bleeding disorders, they are associated with a higher thrombotic complication risk than defects in other clotting factors. Managing IFD patients with thrombosis is challenging as anticoagulant treatment may exacerbate the underlying bleeding risk which can be life-threatening.
Korte, W., Poon, M., Iorio, A., Makris, M.   +3 more
openaire   +2 more sources

A novel KIF11 mutation in a Turkish patient with microcephaly, lymphedema, and chorioretinal dysplasia from a consanguineous family. [PDF]

, 2012
Microcephaly–lymphedema–chorioretinal dysplasia (MLCRD) syndrome is a rare syndrome that was first described in 1992. Characteristic craniofacial features include severe microcephaly, upslanting palpebral fissures, prominent ears, a broad nose, and a ...
Ostergaard, P, Kantekin, E, Ozkinay, F, Özkınay F., Kantekin, Esin, Ozturk T., Jeffery, S, Fusun Atlihan, Jeffery S., Hazan F., Atlihan, Fusun, Esin Kantekin, ÖZTÜRK, ARİF TAYLAN, Ostergaard P., Steve Jeffery, Ozturk, T, Jeffery, Steve, Kantekin E., Hazan, F, Pia Ostergaard, Taylan Ozturk, Ozkinay, Ferda, Ostergaard, Pia, Filiz Hazan, Atlihan F., Atlihan, F, Ferda Ozkinay, Hazan, Filiz   +27 more
core   +1 more source

HOW FREQUENT ARE CONSANGUINEOUS MARRIAGES?

Journal of the Dow University of Health Sciences, 2008
Objective: To determine the frequency of consanguineous marriages in parents and grand parents of alladmitted children in a pediatric unit Design: An observational study.
D. S. Akram, Fehmina Arif, Jabeen Fayyaz
doaj   +4 more sources

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

Integrated Model of De Novo and Inherited Genetic Variants Yields Greater Power to Identify Risk Genes [PDF]

, 2013
De novo mutations affect risk for many diseases and disorders, especially those with early-onset. An example is autism spectrum disorders (ASD). Four recent whole-exome sequencing (WES) studies of ASD families revealed a handful of novel risk genes ...
Schellenberg, Gerard D., He, X, Liu, Li, Xin He, State, MW, Roeder, K, Gibbs, RA, Lim, ET, Elaine T Lim, Lim, Elaine, Schellenberg, Gerard, Sanders, SJ, Schellenberg, GD, Stephan J. Sanders (446495), Gerard D Schellenberg, He, Xin, James S. Sutcliffe (262611), Sanders, Stephan J., James S Sutcliffe, Stephan J Sanders, Gibbs, Richard A., Gerard D. Schellenberg (160086), Silvia De Rubeis (446496), State, Matthew W., Sanders, Stephan, Silvia De Rubeis, Sutcliffe, JS, Mark J Daly, Williams, Scott M., Xin He (48101), Bernie Devlin (228374), Buxbaum, Joseph D., Matthew W. State (446497), Devlin, B, Joseph D. Buxbaum (144578), Mark J. Daly (210204), Bernie Devlin, Liu, L, De Rubeis, Silvia, Roeder, Kathryn, Sutcliffe, James, Buxbaum, Joseph, Gibbs, Richard, Kathryn Roeder (228381), State, Matthew, Kathryn Roeder, Elaine T. Lim (171627), Richard A. Gibbs (94141), Joseph D Buxbaum, Daly, Mark J., Sutcliffe, James S., Daly, MJ, Buxbaum, JD, Matthew W State, Li Liu, De, S, Devlin, Bernie, Richard A Gibbs, Li Liu (75607), De Rubeis, S, Daly, Mark, Lim, Elaine T.   +61 more
core   +1 more source

Enzymatic insights into an inherited genetic disorder

eLife, 2017
Mutations in an enzyme involved in protein degradation affect a signaling pathway that stimulates the development of the digestive tract.
Liping Zhang, Kelly G Ten Hagen
doaj   +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  

Diagnosis of Brugada Syndrome, a Rare Inherited Arrhythmogenic Disorder

Dubai Medical Journal, 2020
Brugada syndrome (BrS) is a rare, autosomal dominant genetic disorder with mutation in the SCN5A gene. It is associated with an increased risk of arrhythmias and sudden cardiac death.
Juwairiya Syed Iqbaluddin, Fathima Murthuza, Sumaiya Iqbal   +2 more
doaj   +1 more source