Results 111 to 120 of about 145,125 (343)

Triazine‐Trione Thermosets with High Processability for Scaffold Applications in Bone Tissue Engineering

Advanced Healthcare Materials, EarlyView.
Novel photo‐clickable triazine‐trione thermosets can be shaped and cured under mild conditions, including room and physiological temperatures. These materials are biocompatible and support osteogenic differentiation of bone marrow–derived mesenchymal stem cells on their surface.
Åshild Johansen, Shuntaro Yamada, Daniel J. Hutchinson, Mohammed A. Yassin, Samih Mohamed‐Ahmed, Cecilie Gjerde, Michael Malkoch, Kamal Mustafa   +7 more
wiley   +1 more source

Event-based real-life outcomes of patients with non-neuronopathic Gaucher disease receiving ert

Orphanet Journal of Rare Diseases
Background Gaucher Disease (GD) is a lysosomal storage disorder. Mutations in the GBA1 gene cause glucocerebrosidase enzyme deficiency that leads to the accumulation of its substrates.
Ayşe Akyüz, Aslı İnci, İlyas Okur, Leyla Tümer, Fatih Süheyl Ezgü   +4 more
doaj   +1 more source

Identification of the iduronate-2-sulfatase proteome in wild-type mouse brain

Heliyon, 2019
Iduronate-2-sulfatase (IDS) is a lysosomal enzyme involved in the metabolism of the glycosaminoglycans heparan (HS) and dermatan (DS) sulfate. Mutations on IDS gene produce mucopolysaccharidosis II (MPS II), characterized by the lysosomal accumulation of
Carolina Cardona, Eliana Benincore, Natalia Pimentel, Luis H. Reyes, Camilo Patarroyo, Alexander Rodríguez-López, M. Martin-Rufian, Luis Alejandro Barrera, Carlos J. Alméciga-Díaz   +8 more
doaj   +1 more source

An Overview of the Inborn Errors of Metabolism, Its Diagnosis, and Management [PDF]

, 2023
Avijit Saha, Shritama Aich, Kheya Mukherjee, Tapas Kumar Sur, S Ghosh, Sanjay Vashisth   +5 more
openalex   +1 more source

Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients

Journal of Inherited Metabolic Disease, 2018
The implementation of whole-exome sequencing in clinical diagnostics has generated a need for functional evaluation of genetic variants. In the field of inborn errors of metabolism (IEM), a diverse spectrum of targeted biochemical assays is employed to ...
K. Coene, L. Kluijtmans, E. van der Heeft, U. Engelke, Siebolt de Boer, Brechtje Hoegen, Hanneke J T Kwast, M. van de Vorst, M. Huigen, I. Keularts, M. Schreuder, C. V. van Karnebeek, S. Wortmann, M. D. de Vries, M. Janssen, C. Gilissen, J. Engel, R. Wevers   +17 more
semanticscholar   +1 more source

Aminosäuren – Leitlinie Parenterale Ernährung, Kapitel 4 [PDF]

, 2009
Protein catabolism should be reduced and protein synthesis promoted with parenteral nutrion (PN). Amino acid (AA) solutions should always be infused with PN. Standard AA solutions are generally used, whereas specially adapted AA solutions may be required
Blumenstein, Irina Ursula, Böhles, Hansjosef, Goeters, Christiane, Schulz, Ralf-Joachim, Stein, Jürgen   +4 more
core  

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

Kidney Organoids in Drug Development: Integrating Technological Advances and Standardization for Effective Implementation

Advanced Healthcare Materials, EarlyView.
This review examines how emerging enabling technologies enhance the physiological relevance, scalability, and reproducibility of kidney organoids, while advanced analytical approaches support model validation and deepen mechanistic insight into nephrotoxicity.
Helen Kearney, Silvia M. Mihăilă, Lorenzo Moroni, Carlos Mota   +3 more
wiley   +1 more source

Start, Stop, Rewind, Repeat—Cyclic Exposure of Adipose Stromal Cells‐derived Cartilage Organoids to Chondrogenic and Proliferative Cues to Achieve Scaled‐up and Customizable Bone Formation by Endochondral Ossification

Advanced Healthcare Materials, EarlyView.
This study exploits the plasticity of ASCs‐derived cartilage organoids which generate a perichondrial layer of MSCs when exposed to cyclic chondrogenic/proliferative cues. Using these organoids as building blocks, we develop (i) Phalange Shaped Tissue Engineered Cartilage (Pa‐TECs), recapitulating endochondral ossification suitable for the treatment of
Pablo Pfister, Emilien Lhospice, Andrés García‐García, Robert Paillaud, Sebastian Jung, Romain Schaller, Elisabeth A. Kappos, Claude Jaquiéry, Tarek Ismail, Dirk J. Schaefer, Michael de Wild, Ivan Martin, Alexandre Kaempfen, Arnaud Scherberich, Adrien Moya   +14 more
wiley   +1 more source

Immunization coverage and timeliness of vaccination in young patients with inborn errors of metabolism: a French multicentric study

Orphanet Journal of Rare Diseases
Background Inborn errors of metabolism (IEMs) are rare disorders that are heterogeneous in severity and clinical presentation. Patients with IEMs should receive the vaccination schedule recommended for the whole population, and specific vaccinations ...
Anne-Sophie Renous, Lena Damaj, Magali Gorce, Magalie Barth, Antoine Bedu, Elise Sacaze, Delphine Lamireau, Cécile Laroche-Raynaud, Laurent Pasquier, Zoha Maakaroun-Vermesse, Marine Tardieu, François Labarthe   +11 more
doaj   +1 more source