Dietary cholesterol supplementation and inhibitory factor 1 serum levels in two dizygotic Smith-Lemli-Opitz syndrome twins: a case report
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S. Fecarotta | B. Rapone | M. Delvecchio | A. Gnoni | E. Favoino | E. di naro | F. Taurino | Maria Teresa Loverro | Simonetta Simonetti | Graziana De Carlo | Anna Maria Isdraele Romano
[1] Z. Korade,et al. Identification and characterization of prescription drugs that change levels of 7-dehydrocholesterol and desmosterol[S] , 2018, Journal of Lipid Research.
[2] A. Gnoni,et al. Systematic review of plasma-membrane ecto-ATP synthase: A new player in health and disease. , 2018, Experimental and molecular pathology.
[3] J. Ferrières,et al. Serum inhibitory factor 1, high-density lipoprotein and cardiovascular diseases , 2017, Current opinion in lipidology.
[4] Z. Korade,et al. Probes for protein adduction in cholesterol biosynthesis disorders: Alkynyl lanosterol as a viable sterol precursor , 2017, Redox biology.
[5] A. Gropman,et al. A Placebo-Controlled Trial of Simvastatin Therapy in Smith-Lemli-Opitz Syndrome , 2016, Genetics in Medicine.
[6] J. Cuezva,et al. The ATPase Inhibitory Factor 1 (IF1): A master regulator of energy metabolism and of cell survival. , 2016, Biochimica et biophysica acta.
[7] A. Thurm,et al. Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update , 2016, Journal of Neurodevelopmental Disorders.
[8] D. Babovic‐Vuksanovic,et al. Pregnancy in an individual with mild Smith–Lemli–Opitz syndrome , 2014, Clinical genetics.
[9] B. Gerhartz,et al. A quantitative homogeneous assay for fragile X mental retardation 1 protein , 2013, Journal of Neurodevelopmental Disorders.
[10] J. Varga,et al. Relation between biomarkers and clinical severity in patients with Smith–Lemli–Opitz syndrome , 2013, European Journal of Pediatrics.
[11] R. Steiner,et al. Treatment of Smith–Lemli–Opitz syndrome and other sterol disorders , 2012, American journal of medical genetics. Part C, Seminars in medical genetics.
[12] R. Hennekam,et al. Mutational spectrum of Smith–Lemli–Opitz syndrome , 2012, American Journal of Medical Genetics. Part C, Seminars in Medical Genetics.
[13] M. Nowaczyk,et al. Smith–Lemli–Opitz syndrome: Phenotype, natural history, and epidemiology , 2012, American journal of medical genetics. Part C, Seminars in medical genetics.
[14] K. Koczok,et al. Mutational Spectrum of Smith-Lemli-Opitz Syndrome Patients in Hungary , 2012, Molecular Syndromology.
[15] S. Papa,et al. Mitochondrial proteome analysis reveals depression of the Ndufs3 subunit and activity of complex I in diabetic rat brain. , 2012, Journal of proteomics.
[16] A. von Eckardstein,et al. The &bgr;-Chain of Cell Surface F0F1 ATPase Modulates ApoA-I and HDL Transcytosis Through Aortic Endothelial Cells , 2012, Arteriosclerosis, thrombosis, and vascular biology.
[17] J. Ruidavets,et al. Mitochondrial Inhibitory Factor 1 (IF1) Is Present in Human Serum and Is Positively Correlated with HDL-Cholesterol , 2011, PloS one.
[18] R. Shelton,et al. Biological activities of 7-dehydrocholesterol-derived oxysterols: implications for Smith-Lemli-Opitz syndrome[S] , 2010, Journal of Lipid Research.
[19] S. Papa,et al. Effect of the ATPase inhibitor protein IF1 on H+ translocation in the mitochondrial ATP synthase complex. , 2009, Biochemical and biophysical research communications.
[20] F. Porter. Smith–Lemli–Opitz syndrome: pathogenesis, diagnosis and management , 2008, European Journal of Human Genetics.
[21] D. S. Lin,et al. Effects of Dietary Cholesterol on Plasma Lipoproteins in Smith-Lemli-Opitz Syndrome , 2004, Pediatric Research.
[22] Hilde van der Togt,et al. Publisher's Note , 2003, J. Netw. Comput. Appl..
[23] F. RivasCrespo,et al. [Smith-Lemli-Opitz syndrome]. , 2001, Anales espanoles de pediatria.
[24] F. Porter. RSH/Smith-Lemli-Opitz syndrome: a multiple congenital anomaly/mental retardation syndrome due to an inborn error of cholesterol biosynthesis. , 2000, Molecular genetics and metabolism.
[25] R. Steiner,et al. Cholesterol supplementation with egg yolk increases plasma cholesterol and decreases plasma 7-dehydrocholesterol in Smith-Lemli-Opitz syndrome. , 2000, American journal of medical genetics.
[26] R. Hennekam,et al. The Smith-Lemli-Opitz syndrome , 2000, Journal of Medical Genetics.
[27] I. Björkhem,et al. Beneficial effects of dietary supplementation in a disorder with defective synthesis of cholesterol. A case report of a girl with Smith‐Lemli‐Opitz syndrome, polyneuropathy and precocious puberty , 1999, Acta paediatrica.
[28] G. Utermann,et al. Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome. , 1998, Proceedings of the National Academy of Sciences of the United States of America.
[29] J. Mulvihill,et al. Cholesterol and bile acid replacement therapy in children and adults with Smith-Lemli-Opitz (SLO/RSH) syndrome. , 1997, American journal of medical genetics.
[30] V. P. Johnson,et al. Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial. , 1997, American journal of medical genetics.
[31] G Salen,et al. Clinical effects of cholesterol supplementation in six patients with the Smith-Lemli-Opitz syndrome (SLOS) , 1997, American journal of medical genetics.