Results 31 to 40 of about 7,344 (147)

Dietary cholesterol supplementation and inhibitory factor 1 serum levels in two dizygotic Smith-Lemli-Opitz syndrome twins: a case report [PDF]

, 2020
Smith-Lemli-Opitz syndrome (SLOS) is a rare genetic neurodevelopmental disorder caused by the defect in the 7-dehydrocholesterol reductase. This defect leads to the deficiency of cholesterol biosynthesis with accumulation of 7-dehydrocholesterol ...
De Carlo, Graziana, Delvecchio, Maurizio, Di Naro, Edoardo, Favoino, Elvira, Fecarotta, Simona, Gnoni, Antonio, Loverro, Maria Teresa, Rapone, Biagio, Romano, Anna Maria Isdraele, Simonetti, Simonetta, Taurino, Federica   +10 more
core   +1 more source

Feedback inhibition of the cholesterol biosynthetic pathway in patients with Smith-Lemli-Opitz syndrome as demonstrated by urinary mevalonate excretion

Journal of Lipid Research, 2002
Smith-Lemli-Opitz syndrome (SLOS) is a genetic disorder characterized by low plasma cholesterol and high 7-dehydrocholesterol (7-DHC). Synthesis of cholesterol and 7-DHC and its metabolites is regulated by HMG-CoA reductase, whose activity can be ...
Anuradha S. Pappu, Robert D. Steiner, Sonja L. Connor, Donna P. Flavell, Don S. Lin, Lauren Hatcher, D.Roger Illingworth, William E. Connor   +7 more
doaj   +1 more source

Prenatal diagnosis of holoprosencephaly associated with Smith–Lemli–Opitz syndrome (SLOS) in a 46,XX fetus

Taiwanese Journal of Obstetrics & Gynecology, 2017
Objective: To show the importance of measuring cholesterol precursor levels in amniotic fluid in all pregnancies with ultrasound features (such as holoprosencephaly) suggestive of Smith–Lemli–Opitz syndrome (SLOS), after exclusion of chromosomal ...
André Travessa, Patrícia Dias, Pedro Rocha, Ana Berta Sousa   +3 more
doaj   +1 more source

Icariin protects against cage layer osteoporosis by intervening in steroid biosynthesis and glycerophospholipid metabolism

Animal Diseases, 2021
Cage layer osteoporosis (CLO) is a common bone metabolism disease in the breeding industry of China. However, effective prevention for CLO has not been developed.
Zhengwang Yu, Jie Huang, Zhongxin Zhou
doaj   +1 more source

Rare cause of post-squalene disorder of cholesterol biosynthesis [PDF]

, 2011
Errors of cholesterol biosynthesis represent a heterogeneous group of metabolic disorders. The aim of the authors of this article is to present a case of a patient with typical symptoms of a rare post-squalene disorder of cholesterol biosynthesis, its ...
Brucknerova, I, Bzduch, V, Cervenova, O, Zikavska, T   +3 more
core   +2 more sources

Vitamin D deficiency in India: fortify or let the sun shine in? [PDF]

Journal of Clinical and Scientific Research, 2015
Vitamin D plays a pivotal role in calcium and mineral metabolism. It is astonishing to find vitamin D deficiency in India despite plentiful sunlight. This could probably because of urbanization, life style and dress code changes, and revision of vitamin ...
Srinivasa PM, Harinarayan CV
doaj   +1 more source

Smith-Lemli-Opitz syndrome: clinical and biochemical findings in Brazilian patients

Genetics and Molecular Biology, 2006
Smith-Lemli-Opitz syndrome (SLOS) or RSH syndrome comprises multiple congenital anomalies and mental retardation. The underlying defect is a deficiency in the activity of delta7-sterol reductase, which decreases cholesterol and increases 7 ...
Fernanda B. Scalco, Paulo A. Otto, Iguatemy L. Brunetti, Vania M. Cruzes, Danilo Moretti-Ferreira   +4 more
doaj   +1 more source

DHCR7 Expression Predicts Poor Outcomes and Mortality From Sepsis

Critical Care Explorations, 2023
IMPORTANCE:. This is a study of lipid metabolic gene expression patterns to discover precision medicine for sepsis. OBJECTIVES:. Sepsis patients experience poor outcomes including chronic critical illness (CCI) or early death (within 14 d).
Faheem W. Guirgis, MD, Vinitha Jacob, MD, PhD, Dongyuan Wu, MS, Morgan Henson, MPH, Kimberly Daly-Crews, BS, MS, Charlotte Hopson, MS, Lauren Page Black, MD, MPH, Elizabeth L. DeVos, MD, MPH, Dawoud Sulaiman, PhD, Guillaume Labilloy, MS, Todd M. Brusko, PhD, Jordan A. Shavit, MD, PhD, Andrew Bertrand, BS, Matthew Feldhammer, PhD, Brett Baskovich, MD, Kiley Graim, PhD, Susmita Datta, PhD, Srinivasa T. Reddy, PhD   +17 more
doaj   +1 more source

Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome. [PDF]

, 2012
International audienceThe Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive multiple congenital malformation syndrome caused by dehydrocholesterol reductase deficiency.
Attié-Bitach, Tania, Aubry, Marie-Cécile, Bazin, Anne, Benlian, Pascale, Bessières-Grattagliano, Bettina, Carbonne, Bruno, Chevy, Françoise, D'Hervé, Dominique, Delahaye, Sophie, Encha-Razavi, Ferechté, Gonzales, Marie, Grigorescu, Romulus, Harvey, Thierry, Jouannic, Jean-Marie, Joyé, Nicole, Laquerrière, Annie, Loget, Philippe, Macé, Guillaume, Odent, Sylvie, Patrier, Sophie, Quélin, Chloé, Verloes, Alain, Ville, Yves, Viot, Geraldine, Wolf, Claude   +24 more
core   +4 more sources

Oxysterols: From redox bench to industry [PDF]

, 2022
More and more attention is nowadays given to the possible translational application of a great number of biochemical and biological findings with the involved molecules.
Biasi F., Canzoneri F., Leoni V., Menta R., Poli G., Risso D.   +5 more
core   +4 more sources