Results 251 to 260 of about 26,055 (351)

Analysis of readability of the top web searches for pediatric inborn errors of fatty acid metabolism. [PDF]

Mol Genet Metab Rep
Sawyer K, Miller W, Popp C, Strege C, Eide C, Tolar J.   +5 more
europepmc   +1 more source

Clinical effectiveness and cost-effectiveness of neonatal screening for inborn errors of metabolism using tandem mass spectrometry: a systematic review

, 2004
Abdullah Pandor, J. Eastham, Catherine Beverley, J. Chilcott, Suzy Paisley   +4 more
openalex   +2 more sources

Parental Education Predicts Longitudinal IQ Trajectories in 22q11.2 Deletion Syndrome: A Three‐Cohort European Study

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background 22q11.2 deletion syndrome (22q11DS) is a genetic disorder characterised by a wide range of physical, cognitive, and psychiatric symptoms. Current knowledge on 22q11DS highlights considerable variation in cognitive outcomes, but the role of environmental factors in shaping these trajectories over time remains poorly understood.
Yelyzaveta Snihirova, Therese van Amelsvoort, Ann Swillen, Marianne van den Bree, Dennis van der Meer, Janet Harwood, Claudia Vingerhoets, David E. J. Linden   +7 more
wiley   +1 more source

Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40°C: Implications for other inborn errors of metabolism

, 2004
Jeannette Gootjes, Frank Schmohl, Petra A.W. Mooijer, Conny Dekker, Hanna Mandel, Meral Topçu, Martina Huemer, Marco Schütz, Thorsten Marquardt, Jan Smeitink, Hans R. Waterham, Ronald J. A. Wanders   +11 more
openalex   +1 more source

Artificial intelligence‐powered microscopy: Transforming the landscape of parasitology

Journal of Microscopy, EarlyView.
Abstract Microscopy and image analysis play a vital role in parasitology research; they are critical for identifying parasitic organisms and elucidating their complex life cycles. Despite major advancements in imaging and analysis, several challenges remain. These include the integration of interdisciplinary data; information derived from various model
Mariana De Niz, Sara Silva Pereira, David Kirchenbuechler, Leandro Lemgruber, Constadina Arvanitis   +4 more
wiley   +1 more source

Trajectories of Dietary Energy, Macro and Micronutrient Intake From the Third Trimester of Pregnancy to 8.5 Months Postpartum Among Brazilian Women: The Mothers, Infants and Lactation Quality Study

Maternal &Child Nutrition, EarlyView.
The trajectories of energy, macro, and micronutrient intake from pregnancy to 8.5 months postpartum showed a stability in energy and protein, a decline in carbohydrates and fibre, and discrete increases in total fat, mono, poly, and saturated fat. In addition, there was a decline in the intake of most micronutrients.
Aline Yukari Kurihayashi, Bruna Celestino Schneider, Amanda Caroline Cunha Figueiredo, Gabriela Torres Silva, Adriana Divina de Souza Campos, Daniela Polessa Paula, Daniela de Barros Mucci, Lindsay H. Allen, Gilberto Kac   +8 more
wiley   +1 more source

Perspectives of pediatric patients with inborn errors of metabolism on long-term treatment and metabolic emergency management. [PDF]

Orphanet J Rare Dis
Harings T, Bertsche T, Thiele AG, Kiess W, Bertsche A, Beblo S, Neininger MP.   +6 more
europepmc   +1 more source

Genomic insights on conservation priorities for North Sea houting and European lake whitefish (Coregonus spp.)

Molecular Ecology, EarlyView.
Abstract Population genomics analysis holds great potential for informing conservation of endangered populations. We focused on a controversial case of European whitefish (Coregonus spp.) populations. The endangered North Sea houting is the only coregonid fish that tolerates oceanic salinities and was previously considered a species (C.
Aja Noersgaard Buur Tengstedt, Shenglin Liu, Magnus W. Jacobsen, Camilla Gundlund, Peter Rask Møller, Søren Berg, Dorte Bekkevold, Michael M. Hansen   +7 more
wiley   +1 more source

Markers Associated with Inborn Errors of Metabolism of Branched-Chain Amino Acids and Their Relevance to Upper Levels of Intake in Healthy People: An Implication from Clinical and Molecular Investigations on Maple Syrup Urine Disease

, 2005
Hiroshi Mitsubuchi, Misao Ōwada, Fumio Endo   +2 more
openalex   +1 more source