Results 41 to 50 of about 4,480 (201)

Cholesterolomics: An update [PDF]

, 2017
Cholesterolomics can be regarded as the identification and quantification of cholesterol, its precursors post squalene, and metabolites of cholesterol and of its precursors, in a biological sample.
Alvelius, Alwena H. Morgan, Andersson, Axelson, Bauman, Bazan, Bjorkhem, Bjorkhem, Bjorkhem, Blanc, Byrne, Cobice, Crick, Crick, Davies, de Medina, Diczfalusy, Dzeletovic, Eylan Yutuc, Fakheri, Griffiths, Griffiths, Griffiths, Griffiths, Griffiths, Griffiths, Gustafsson, Hannedouche, Hu, Ian Gilmore, Ikegami, Jiang, Jiang, Jonas Abdel-Khalik, Klinke, Korade, Kotti, Lehmann, Lin, Liu, Liu, Liu, Maioli, Matysik, Mazzacuva, McDonald, McDonald, McDonald, Myers, Nachtergaele, Nedelcu, Nelson, Novakova, Park, Pataj, Porter, Porter, Radhakrishnan, Reboldi, Roberg-Larsen, Roberg-Larsen, Robertson, Russell, Sacchetti, Saeed, Saeed, Santori, Schroepfer, Setchell, Sever, Shinkyo, Sidhu, Silvente-Poirot, Simigdala, Soncini, Soroosh, Stiles, Theofilopoulos, Theofilopoulos, Thomas Hearn, Wassif, Watabe, William J. Griffiths, Wu, Xu, Yuqin Wang, Zhang   +86 more
core   +1 more source

Diagnosis of Smith-Lemli-Opitz syndrome by ultraviolet spectrophotometry

Brazilian Journal of Medical and Biological Research, 2003
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder due to an inborn error of cholesterol metabolism, characterized by congenital malformations, dysmorphism of multiple organs, mental retardation and delayed neuropsychomotor development ...
F.B. Scalco, V.M. Cruzes, R.C. Vendramini, I.L. Brunetti, D. Moretti-Ferreira   +4 more
doaj   +1 more source

The 3‐Hit Metabolic Signaling Model for Autism Spectrum Disorder: A Summary

Autism Research, EarlyView.
ABSTRACT Autism spectrum disorder (ASD) is a highly heritable yet environmentally sensitive neurodevelopmental condition whose biological heterogeneity has resisted a unifying causal explanation for over 100 years. The 3‐hit metabolic signaling model proposes that ASD arises from abnormal persistence of an evolutionarily conserved stress‐response ...
Robert K. Naviaux
wiley   +1 more source

Asymmetric Reduction of Unactivated Alkenes

Chemistry – A European Journal, EarlyView.
Unactivated alkenes rank among the most inert functional groups in synthesis and their selective reduction remains challenging. This Review charts the evolution from classical metal‐catalyzed hydrogenation to radical hydrogen atom transfer (HAT) and emerging biocatalytic concepts, highlighting how complementary mechanistic strategies, including the ...
Nico D. Fessner, Sebastian Roth, Richard Niese, Michael Müller   +3 more
wiley   +1 more source

Elevated autophagy and mitochondrial dysfunction in the Smith–Lemli–Opitz Syndrome

Molecular Genetics and Metabolism Reports, 2014
Smith–Lemli–Opitz Syndrome (SLOS) is a congenital, autosomal recessive metabolic and developmental disorder caused by mutations in the enzyme which catalyzes the reduction of 7-dehydrocholesterol (7DHC) to cholesterol.
Shaohua Chang, Gongyi Ren, Robert D. Steiner, Louise Merkens, Jean-Baptiste Roullet, Zeljka Korade, Paul J. DiMuzio, Thomas N. Tulenko   +7 more
doaj   +1 more source

Direct analysis of sterols from dried plasma/blood spots by an atmospheric pressure thermal desorption chemical ionization mass spectrometry (APTDCI-MS) method for a rapid screening of Smith-Lemli-Opitz syndrome. [PDF]

, 2010
Here is proposed a rapid and sensitive method involving atmospheric pressure thermal desorption chemical ionization mass spectrometry (APTDCI-MS) for specific laboratory screening of the Smith– Lemli–Opitz syndrome (SLOS), an inherited defect of ...
Corso G., D'Apolito O., Dello Russo A., Gelzo M., Paglia G.   +4 more
core   +1 more source

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source

Oxysterols in the circulation of patients with the Smith-Lemli-Opitz syndrome: abnormal levels of 24S- and 27-hydroxycholesterol

Journal of Lipid Research, 2001
Infants with the cholesterol synthesis defect Smith-Lemli-Opitz syndrome (SLO) have reduced activity of the enzyme 7-dehydrocholesterol-7-reductase and accumulate 7-dehydrocholesterol, with the highest concentration in the brain.
Ingemar Björkhem, Lena Starck, Ulla Andersson, Dieter Lütjohann, Sara von Bahr, Irina Pikuleva, Amir Babiker, Ulf Diczfalusy   +7 more
doaj   +1 more source

Unravelling new pathways of sterol metabolism [PDF]

, 2017
Purpose of reviewTo update researchers of recently discovered metabolites of cholesterol and of its precursors and to suggest relevant metabolic pathways.Recent findingsPatients suffering from inborn errors of sterol biosynthesis, transport and ...
Björkhem, Boenzi, Boland, Griffiths, Griffiths, Griffiths, Griffiths, Guengerich, Jiang, Jones, Kannenberg, Mazzacuva, Noguer, Nury, Pajares, Pataj, Polo, Reunert, Romanello, Sever, Silvente-Poirot, Vanier, Vaz, Xu   +23 more
core   +1 more source

The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023

Acta Ophthalmologica, EarlyView.
Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg, Jenny Gyllén, Birgitte Haargaard, Alf Nyström, Arzu Karatepe Hashas, Anna Linnarsson Wiklund, Eric Trocmé, Ulrika Kjellström, Kristina Tornqvist, Gunilla Magnusson   +9 more
wiley   +1 more source