Results 81 to 90 of about 120,158 (339)

Acute Hepatic Porphyrias: Review and Recent Progress. [PDF]

, 2019
The acute hepatic porphyrias (AHPs) are a group of four inherited diseases of heme biosynthesis that present with episodic, acute neurovisceral symptoms.
Andant, Anderson, Andersson, Badawy, Balwani, Bissell, Bissell, Bloomer, Bonkovsky, Bonkovsky, Bonkovsky, Bonkovsky, Bonkowsky, Bonkowsky, Bonkowsky, Bylesjo, Chen, D’Avola, Ferrer, Glueck, Handschin, Jeans, Lambrecht, Lane, Marsden, McGuire, Pallet, Sardh, Sardh, Shen, Singal, Stein, Stewart, Tchernitchko, Wahlin, Watson, Watson, Willandt, Wu, Yarra, Yasuda   +40 more
core   +1 more source

3D‐Printed Titanium Implants with Bioactive Peptide‐Polysaccharide Scaffolds for Personalized Bone Reconstruction

Advanced Healthcare Materials, EarlyView.
Porous 3D‐printed titanium implants are made bioactive by integration with a supramolecular peptide‐hyaluronic acid nanofibrillar scaffold, without the addition of exogenous cells or growth factors. Uniform filling of the implant architecture promotes vascularized, spatially homogeneous bone regeneration, significantly enhancing osteogenesis throughout
Noam Rattner, Vladimir Perlis, Eran Golden, Ariel Pokhojaev, Rachel Sarig, Itzhak Binderman, Michal Halperin‐Sternfeld, Solomon Dadia, Lihi Adler‐Abramovich   +8 more
wiley   +1 more source

Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency

Orphanet Journal of Rare Diseases, 2018
Background Mitochondrial trifunctional protein (MTP) and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency are long-chain fatty acid oxidation disorders with particularly high morbidity and mortality.
Amelie S. Lotz-Havla, Wulf Röschinger, Katharina Schiergens, Katharina Singer, Daniela Karall, Vassiliki Konstantopoulou, Saskia B. Wortmann, Esther M. Maier   +7 more
doaj   +1 more source

Orotic Aciduria [PDF]

, 2018
Orotic acid is an intermediate found in the pathway for pyrimidine synthesis. The mitochondrial enzyme dihydroorotate dehydrogenase (DHODH) catalyzes the production of orotic acid by the conversion of the compound dihydroorotate to orotic acid.
Fonteh, Aliah L
core   +1 more source

Survey of Italian pediatricians on awareness, experiences and beliefs regarding direct-to-consumer genetic testing in minors [PDF]

, 2019
Background: Our study wanted to assess Italian pediatricians’ awareness, experience and beliefs regarding directto- consumer (DTC) genetic tests (GT) in minors, with a focus on those for predisposition to complex disease, lyfestyle, athletic ability and ...
Baroncini A, Cocchi G, Corsello G, Torricelli F   +3 more
core   +1 more source

Screening for inborn errors of metabolism using untargeted metabolomics and out-of-batch controls [PDF]

, 2020
Michiel Bongaerts, Ramon Bonte, Serwet Demirdas, Ed H. Jacobs, Esmée Oussoren, Ans T. van der Ploeg, Margreet A.E.M. Wagenmakers, Robert M.W. Hofstra, Henk J. Blom, Marcel J.T. Reinders, George J. G. Ruijter   +10 more
openalex   +1 more source

Organic Electrochemical Transistors for Neuromorphic Devices and Applications

Advanced Materials, EarlyView.
Organic electrochemical transistors are emerging as promising platforms for neuromorphic devices that emulate neuronal and synaptic activities and can seamlessly integrate with biological systems. This review focuses on resultant organic artificial neurons, synapses, and integrated devices, with an emphasis on their ability to perform neuromorphic ...
Kexin Xiang, Jiajun Song, Hong Liu, Junxin Chen, Feng Yan   +4 more
wiley   +1 more source

Phenylalanine and Tyrosine Metabolism Analysis in Heterozygotes for Phenylketonuria and in Healthy Individuals

Journal of Inborn Errors of Metabolism and Screening, 2015
Phenylketonuria (PKU) is an inherited metabolic disorder derived from a deficiency in the enzyme phenylalanine hydroxylase, which converts the amino acid phenylalanine (Phe) into tyrosine (Tyr).
Roseani Andrade MSc, Vaneisse Monteiro MSc, Cléber Cruz MSc, Carla Silva BS, Adriana Bastos MSc, Luiz Silva PhD   +5 more
doaj   +1 more source

Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. [PDF]

, 2020
Since 2013, the International Union of Immunological Societies (IUIS) expert committee (EC) on Inborn Errors of Immunity (IEI) has published an updated phenotypic classification of IEI, which accompanies and complements their genotypic classification ...
Ailal, Fatima, Al-Herz, Waleed, Bousfiha, Aziz, Casanova, Jean-Laurent, Chatila, Talal, Cunningham-Rundles, Charlotte, Etzioni, Amos, Franco, Jose Luis, Holland, Steven M, Jeddane, Leila, Klein, Christoph, Morio, Tomohiro, Ochs, Hans D, Oksenhendler, Eric, Picard, Capucine, Puck, Jennifer, Sullivan, Kathleen E, Tangye, Stuart G, Torgerson, Troy R   +18 more
core  

The incidence of portal vein thrombosis at liver transplantation [PDF]

, 1992
The incidence of portal vein thrombosis was examined in 885 patients who received orthotopic liver transplantations for various end‐stage liver diseases between 1989 and 1990. The thrombosis was classified into four grades.
Iwatsuki, S, Nonami, T, Starzl, TE, Yokoyama, I   +3 more
core   +1 more source