Results 101 to 110 of about 145,125 (343)

A proposed nosology of inborn errors of metabolism

Genetics in Medicine, 2018
We propose a nosology for inborn errors of metabolism that builds on their recent redefinition. We established a strict definition of criteria to develop a self-consistent schema for inclusion of a disorder into the nosology.
C. Ferreira, C. V. van Karnebeek, J. Vockley, N. Blau   +3 more
semanticscholar   +1 more source

LIVER TRANSPLANTATION FOR TYPE I GLYCOGEN STORAGE DISEASE [PDF]

, 1983
A 16½-year-old girl with type I glycogen storage disease was treated by orthotopic liver transplantation under cyclosporin/steroid immunosuppression. All metabolic stigmata of the disease were relieved and 1 year postoperatively she follows a normal diet
Alper, Alper Ca, Con, Folkman, Greene, Greene, Kashiwagi, Kashiwagi, Merrill, Nordlie, Raum, Starzl, Starzl, Starzl, Starzl, Starzl   +15 more
core   +1 more source

A Bespoke Programmable Interpenetrating Elastomer Network Composite Laryngeal Stent for Expedited Paediatric Laryngotracheal Reconstruction

Advanced Functional Materials, EarlyView.
A programmable interpenetrating double‐network architecture, created via 3D‐TIPS printing and resin infusion, synergistically combines thermoplastic and thermosetting elastomers to balance structural rigidity and surface softness—crucial for paediatric laryngeal stents.
Elizabeth F. Maughan, Lei Wu, Dong Zhang, Linxiao Wu, Graca Ferreira Vaz Pinto Mendes, Wanqiao J. Tu, Heping Ma, Toby J. Proctor, Colin R. Butler, Thomas Kjærgaard, Mark W. Lowdell, Martin A. Birchall, Robert E. Hynds, Richard Hewitt, Wenhui Song   +14 more
wiley   +1 more source

Impact of cardiovascular involvement on the clinical course of paediatric mitochondrial disorders

Orphanet Journal of Rare Diseases, 2020
Background Primary mitochondrial disorders (PMD) are rare conditions resulting in progressive multi-organ failure. Cardiovascular involvement (CVI) has been reported in paediatric patients.
Alice Brambilla, Iacopo Olivotto, Silvia Favilli, Gaia Spaziani, Silvia Passantino, Elena Procopio, Amelia Morrone, Maria Alice Donati   +7 more
doaj   +1 more source

Metabolomics to Improve the Diagnostic Efficiency of Inborn Errors of Metabolism

International Journal of Molecular Sciences, 2020
Early diagnosis of inborn errors of metabolism (IEM)—a large group of congenital disorders—is critical, given that many respond well to targeted therapy.
D. Mordaunt, David Cox, M. Fuller
semanticscholar   +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

A Human Neural Tube Model Using 4D Self‐Folding Smart Scaffolds

Advanced Healthcare Materials, EarlyView.
Induced pluripotent stem cells (iPSCs) exhibit features comparable to the inner cell mass of the human embryo. iPSCs are applied to a novel self‐folding 4D‐Neural Tube (4D‐NT) structure that mimics the neurulation process. This 4D‐NT model recapitulates early events of human neural development and represents a platform to explore neurodevelopmental ...
Claudia Dell'Amico, Irene Chiesa, Angela Toffano, Alessio Esposito, Piera Mancini, Chiara Magliaro, Angeliki Louvi, Carmelo De Maria, Marco Onorati   +8 more
wiley   +1 more source

Evaluation of animal welfare on organic dairy farms in Finland [PDF]

, 2000
The evaluation of animal welfare on organic dairy farms was carried out in connection with the first Finnish research study on animal healthcare and welfare in 1996 to 1998.
Roiha, Ulla
core  

Microphysiological Systems of Lymphatics and Immune Organs

Advanced Healthcare Materials, EarlyView.
This review surveys recent progress in engineering lymphatic microenvironments and immune organoids within microphysiological systems, emphasizing innovative strategies to recreate the biochemical and biophysical complexity of native lymphatic tissues.
Ishita Jain, Ankur Singh, Andrés J. García   +2 more
wiley   +1 more source

Global birth prevalence and mortality from inborn errors of metabolism: a systematic analysis of the evidence

Journal of Global Health, 2018
Background Inborn errors of metabolism (IEM) are a group of over 500 heterogeneous disorders resulting from a defect in functioning of an intermediate metabolic pathway.
Donald Waters, Davies Adeloye, Daisy Woolham, E. Wastnedge, Smruti K. Patel, I. Rudan   +5 more
semanticscholar   +1 more source