Results 211 to 220 of about 38,522 (353)

Steroidomics via Gas Chromatography-Mass Spectrometry (GC-MS): A Comprehensive Analytical Approach for the Detection of Inborn Errors of Metabolism. [PDF]

Life (Basel)
Chiara F, Allegra S, Liuzzi S, Puccinelli MP, Mengozzi G, De Francia S.   +5 more
europepmc   +1 more source

The landscape of CRISPR/Cas9 for inborn errors of metabolism. [PDF]

Mol Genet Metab, 2023
Leal AF, Fnu N, Benincore-Flórez E, Herreño-Pachón AM, Echeverri-Peña OY, Alméciga-Díaz CJ, Tomatsu S.   +6 more
europepmc   +1 more source

Metabolic considerations of the portal circulation [PDF]

, 1988
Starzl, TE
core  

Clinical characteristics and diagnostic clues in inborn errors of creatine metabolism [PDF]

, 2003
Carmen Stromberger, Olaf A. Bodamer, Sylvia Stöckler‐Ipsiroglu   +2 more
openalex   +1 more source

Gaining insights into epigenetic memories through artificial intelligence and omics science in plants

Journal of Integrative Plant Biology, EarlyView.
This review explores how artificial intelligence and machine learning predict plant behavior in response to environmental stress by modeling molecular regulatory networks of plant stress responses. Their combined application with omics methods opens new avenues in understanding the functioning of plant memory and future plant memory‐based plant ...
Judit Dobránszki, Valya Vassileva, Dolores R. Agius, Panagiotis Nikolaou Moschou, Philippe Gallusci, Margot M.J. Berger, Dóra Farkas, Marcos Fernando Basso, Federico Martinelli   +8 more
wiley   +1 more source

Inborn errors of metabolism [PDF]

, 2018
openaire   +3 more sources

Intronic variants in inborn errors of metabolism: Beyond the exome. [PDF]

Front Genet, 2022
Hertzog A, Selvanathan A, Farnsworth E, Tchan M, Adams L, Lewis K, Tolun AA, Bennetts B, Ho G, Bhattacharya K.   +9 more
europepmc   +1 more source

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

The Metabolic Treatabolome and Inborn Errors of Metabolism Knowledgebase therapy tool: Do not miss the opportunity to treat! [PDF]

J Inherit Metab Dis
den Hollander B, Hoytema van Konijnenburg EMM, Hewitson B, van der Meijden JC, Balfoort BM, Winter B, Müller AR, Wasserman WW, Ferreira CR, van Karnebeek CD.   +9 more
europepmc   +1 more source

N-Acetylated Metabolites in Urine: Proton Nuclear Magnetic Resonance Spectroscopic Study on Patients with Inborn Errors of Metabolism [PDF]

, 2004
Udo F. H. Engelke, M.L.F. Liebrand-van Sambeek, J.G.N. de Jong, Jules G. Leroy, Éva Morava, Jan A. M. Smeitink, Ron A. Wevers   +6 more
openalex   +1 more source