Results 51 to 60 of about 143,066 (307)

Rare inherited disorders of fibrinogen [PDF]

Haemophilia, 2008
Summary.  Fibrinogen, a hexameric glycoprotein encoded by three genes –FGA, FGB, FGG– clustered on chromosome 4q is involved in the final steps of coagulation as a precursor of fibrin monomers required for the formation of the haemostatic plug. Inherited disorders of fibrinogen abnormalities are rare and not as well clinically characterized as some ...
S S, Acharya, D M, Dimichele
openaire   +2 more sources

Proteomics in Inherited Metabolic Disorders

International Journal of Molecular Sciences, 2022
Inherited metabolic disorders (IMD) are rare medical conditions caused by genetic defects that interfere with the body’s metabolism. The clinical phenotype is highly variable and can present at any age, although it more often manifests in childhood.
Maria del Pilar Chantada-Vázquez, Susana B. Bravo, Sofía Barbosa-Gouveia, José V. Alvarez, María L. Couce   +4 more
openaire   +2 more sources

Working memory in children with developmental disorders [PDF]

, 2009
The aim of the present study was to directly compare working memory skills across students with different developmental disorders to investigate whether the uniqueness of their diagnosis would impact memory skills.
Tracy, Alloway, Archibald, Lisa M D, Alloway, Tracy Packiam, Rajendran, Gnanathusharan, Lisa, Archibald, Archibald, Lisa M.D., Rajendran, G; id_orcid   +6 more
core   +1 more source

Therapeutic Apheresis in Nigeria: A Multi‐Center Summary of Abstracts From the Inaugural Nigerian Society for Apheresis Scientific Meeting

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Background Therapeutic apheresis (TA) is an established treatment modality for hematologic, neurologic, and immunologic disorders, yet access remains severely limited in sub‐Saharan Africa. Donor apheresis, including platelet apheresis collection from healthy donors, represents an important complementary modality supporting blood product ...
Nosa Bazuaye, Chimezie Okwuonu, Evelyn Idam, Folasade Adelekan‐Popoola, Shakirat Gold‐Olufadi, Olufunto Olufela Kalejaiye, Abdullateef Ogala, Zinnah Aloziem, Blossom Amamchukwu, Patience Elimia, Mkpoikanabasi Obot‐Obot, Henry Mbakwe, Praises Maduagwuna, Olatunji Akinrodoye, Chiamaka Anyanwu, Benjamin Anyanwu, Adedamola Akinsiku, Oluwatoyin A. Akinsiku, Muzamil O. Hassan, Fatiu A. Arogundade, Olalekan E. Ojo, Homayemem Weli, Jesupelumi Adenihun, Aderemi Adelaja, Ebun Bamgboye, Olalekan Olatise, Ade E. Faponle, Ayoola Odeyemi, Michael Muoka, Stephen Asaolu, Qudrat Busari, Blessing Dawudu, Michael Naiyeju, Rasheed A. Balogun   +33 more
wiley   +1 more source

Spatiotemporal and quantitative analyses of phosphoinositides – fluorescent probe—and mass spectrometry‐based approaches

FEBS Letters, EarlyView.
Fluorescent probes allow dynamic visualization of phosphoinositides in living cells (left), whereas mass spectrometry provides high‐sensitivity, isomer‐resolved quantitation (right). Their synergistic use captures complementary aspects of lipid signaling. This review illustrates how these approaches reveal the spatiotemporal regulation and quantitative
Hiroaki Kajiho, Shin Morioka, Junko Sasaki, Takehiko Sasaki   +3 more
wiley   +1 more source

Inherited disorders of bilirubin clearance [PDF]

Pediatric Research, 2015
Inherited disorders of hyperbilirubinemia may be caused by increased bilirubin production or decreased bilirubin clearance. Reduced hepatic bilirubin clearance can be due to defective (i) unconjugated bilirubin uptake and intrahepatic storage, (ii) conjugation of glucuronic acid to bilirubin (e.g., Gilbert syndrome, Crigler-Najjar syndrome, Lucey ...
Naureen, Memon, Barry I, Weinberger, Thomas, Hegyi, Lauren M, Aleksunes   +3 more
openaire   +2 more sources

in Adulthood: Stable Motor Signs But Increased Psychiatry [PDF]

, 2020
Myoclonus‐dystonia (M‐D) is a rare hyperkinetic movement disorder characterized by upper body–predominant myoclonus and dystonia.1 A large proportion of cases are caused by autosomal‐dominant inherited mutations in the SGCE gene. In addition to the motor
Tijssen, Marina A. J., Kathryn J. Peall, Timmers, Elze R., Zutt, Rodi, Tijssen, Cees C., Marina A.J. Tijssen, Peall, Kathryn J., Foncke, Elisabeth M., Bruno Bergmans, Dijk, Joke M., Cees C. Tijssen, Bergmans, Bruno, Elze R. Timmers, Rodi Zutt, Elisabeth M. Foncke, Timmers, Elze R.; id_orcid, Joke M. Dijk, Tijssen, Marina A.J.   +17 more
core   +1 more source

Phosphatidylinositol 4‐kinase as a target of pathogens—friend or foe?

FEBS Letters, EarlyView.
This graphical summary illustrates the roles of phosphatidylinositol 4‐kinases (PI4Ks). PI4Ks regulate key cellular processes and can be hijacked by pathogens, such as viruses, bacteria and parasites, to support their intracellular replication. Their dual role as essential host enzymes and pathogen cofactors makes them promising drug targets.
Ana C. Mendes, Guilherme M. Azevedo, Amanda P. Barcellos, Diana Bahia   +3 more
wiley   +1 more source

[Adults with an inherited metabolic disorder: a rapidly growing population with unique challenges]

, 2014
Contains fulltext : 137323.pdf (Publisher’s version ) (Open Access)Inherited metabolic disorders consist of a diverse group of more than 800 rare disorders.
Brouwers, M.C., Karstens, François P.J., Karstens, F.P., Linthorst, GE, Janssen, MCH, Wolffenbuttel, B.H.R., Meersseman, Wouter, Langendonk, Janneke G., Cassiman, D, Hollak, Carla E.M., Thijs, A, Rennings, A, Hollak, CEM, Meersseman, W., Alkemade, G., Hollak, C.E.M., Cassiman, D., Alkemade, G, Linthorst, Gabor E., Thijs, Abel, Rennings, A.J.M., Wolffenbuttel, Bruce H.R., Cassiman, David, Langendonk, Janneke; id_orcid, Janssen, M.C., Thijs, A.M., Rennings, Alexander, Brouwers, Martijn C.G.J., Brouwers, MCGJ, Linthorst, G.E., Janssen, Mirian C.H., Karstens, Francois, Meersseman, W, Wolffenbuttel, BHR, Langendonk, J.G., Alkemade, Gonnie   +35 more
core   +2 more sources

Coagulation factor XIII deficiency – Report of a newborn F13A1 Val34Leu polymorphism carrier

Journal of Pediatric and Neonatal Individualized Medicine, 2022
Coagulation factor XIII deficiency (FXIIID) is a rare inherited autosomal recessive bleeding disorder. FXIIID is the only coagulation factor deficiency that has been associated with pregnancy loss.
Georgios N. Katsaras, Dimitra Gialamprinou, Ilias Chatziioannidis, Paraskevi Karagianni, Georgios Mitsiakos   +4 more
doaj   +1 more source