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Year Number of Results
1999 1
2000 2
2001 3
2002 1
2003 1
2005 1
2006 1
2007 1
2009 1
2010 1
2011 3
2012 1
2013 3
2014 1
2015 1
2024 0

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Page 1
Cholesterol metabolism deficiency.
Jira P. Jira P. Handb Clin Neurol. 2013;113:1845-50. doi: 10.1016/B978-0-444-59565-2.00054-X. Handb Clin Neurol. 2013. PMID: 23622407 Review.
Six defects in the post-squalene segment of the pathway include: Smith-Lemli-Opitz syndrome, two X-linked dominant inherited and male-lethal disorders, Conradi-Hunermann-Happle syndrome and congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD), and at …
Six defects in the post-squalene segment of the pathway include: Smith-Lemli-Opitz syndrome, two X-linked dominant inherited and male-lethal …
Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature.
Schaaf CP, Koster J, Katsonis P, Kratz L, Shchelochkov OA, Scaglia F, Kelley RI, Lichtarge O, Waterham HR, Shinawi M. Schaaf CP, et al. Am J Med Genet A. 2011 Jul;155A(7):1597-604. doi: 10.1002/ajmg.a.34040. Epub 2011 Jun 10. Am J Med Genet A. 2011. PMID: 21671375 Free PMC article. Review.
Desmosterolosis, a rare disorder of cholesterol biosynthesis, is caused by mutations in DHCR24, the gene encoding the enzyme 24-dehydrocholesterol reductase (DHCR24). To date, desmosterolosis has been described in only two patients. Here we report on a third patient …
Desmosterolosis, a rare disorder of cholesterol biosynthesis, is caused by mutations in DHCR24, the gene encoding the enzyme 24-dehyd …
Raine syndrome: an overview.
Faundes V, Castillo-Taucher S, Gonzalez-Hormazabal P, Chandler K, Crosby A, Chioza B. Faundes V, et al. Eur J Med Genet. 2014 Sep;57(9):536-42. doi: 10.1016/j.ejmg.2014.07.001. Epub 2014 Jul 12. Eur J Med Genet. 2014. PMID: 25019372 Review.
Facial appearance and radiological findings allow the clinical diagnosis, and molecular testing of FAM20C can confirm this. Desmosterolosis and congenital cytomegalovirus infection may resemble Raine syndrome. ...
Facial appearance and radiological findings allow the clinical diagnosis, and molecular testing of FAM20C can confirm this. Desmosterolos …
Sterol metabolism disorders and neurodevelopment-an update.
Kanungo S, Soares N, He M, Steiner RD. Kanungo S, et al. Dev Disabil Res Rev. 2013;17(3):197-210. doi: 10.1002/ddrr.1114. Dev Disabil Res Rev. 2013. PMID: 23798009 Review.
In this article, we review sterol synthesis disorders in the pre- and post-squalene pathway highlighting neurodevelopmental aspects that underlie the clinical presentations and course of Smith-Lemli-Opitz Syndrome (SLOS), mevalonic aciduria (MVA) or the milder version hyper-immun …
In this article, we review sterol synthesis disorders in the pre- and post-squalene pathway highlighting neurodevelopmental aspects that und …
Genetic defects in postsqualene cholesterol biosynthesis.
Moebius FF, Fitzky BU, Glossmann H. Moebius FF, et al. Trends Endocrinol Metab. 2000 Apr;11(3):106-14. doi: 10.1016/s1043-2760(00)00235-6. Trends Endocrinol Metab. 2000. PMID: 10707051 Review.
They impair the activity of a putative C3-sterol dehydrogenase (Nshdl, X-linked dominant bare patches/striated mutation in mice), the sterol delta 8-delta 7 isomerase/EBP (Ebp, X-linked dominant tattered mutation in mice; chondrodysplasia punctata (CDPX2) in humans), the delta 24 …
They impair the activity of a putative C3-sterol dehydrogenase (Nshdl, X-linked dominant bare patches/striated mutation in mice), the sterol …
Inborn errors of sterol biosynthesis.
Kelley RI, Herman GE. Kelley RI, et al. Annu Rev Genomics Hum Genet. 2001;2:299-341. doi: 10.1146/annurev.genom.2.1.299. Annu Rev Genomics Hum Genet. 2001. PMID: 11701653 Review.
Each of the six now recognized sterol disorders-mevalonic aciduria, Smith-Lemli-Opitz syndrome, desmosterolosis, Conradi-Hunermann syndrome, CHILD syndrome, and Greenberg dysplasia-has added to our knowledge of the relationship between cholesterol metabolism and embryogene …
Each of the six now recognized sterol disorders-mevalonic aciduria, Smith-Lemli-Opitz syndrome, desmosterolosis, Conradi-Hunermann sy …
Inherited disorders of cholesterol biosynthesis.
Haas D, Kelley RI, Hoffmann GF. Haas D, et al. Neuropediatrics. 2001 Jun;32(3):113-22. doi: 10.1055/s-2001-16618. Neuropediatrics. 2001. PMID: 11521206 Review.
The main characteristics of CHILD syndrome and Conradi-Huenermann syndrome are skeletal defects and ichthyosiform skin involvement. Smith-Lemli-Opitz syndrome and desmosterolosis are generalized malformation syndromes involving many different organs including the central n …
The main characteristics of CHILD syndrome and Conradi-Huenermann syndrome are skeletal defects and ichthyosiform skin involvement. Smith-Le …
RSH (so-called Smith-Lemli-Opitz) syndrome.
Opitz JM. Opitz JM. Curr Opin Pediatr. 1999 Aug;11(4):353-62. doi: 10.1097/00008480-199908000-00015. Curr Opin Pediatr. 1999. PMID: 10439210 Review.
Now known as a Garrodian inborn error caused by the homozygous state of many different autosomal recessive mutations of the 7-dehydrocholesterol reductase gene leading to deficient conversion of 7-dehydrocholesterol to cholesterol, the RSH (so-called Smith-Lemli-Opitz) syndrome h …
Now known as a Garrodian inborn error caused by the homozygous state of many different autosomal recessive mutations of the 7-dehydrocholest …
Malformation syndromes caused by disorders of cholesterol synthesis.
Porter FD, Herman GE. Porter FD, et al. J Lipid Res. 2011 Jan;52(1):6-34. doi: 10.1194/jlr.R009548. Epub 2010 Oct 7. J Lipid Res. 2011. PMID: 20929975 Free PMC article. Review.
Herein, we will review clinical and basic science aspects of Smith-Lemli-Opitz syndrome, desmosterolosis, lathosterolosis, HEM dysplasia, X-linked dominant chondrodysplasia punctata, Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects Syndrome, sterol …
Herein, we will review clinical and basic science aspects of Smith-Lemli-Opitz syndrome, desmosterolosis, lathosterolosis, HEM dyspla …
Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.
Rossi M, Hall CM, Bouvier R, Collardeau-Frachon S, Le Breton F, Bucourt M, Cordier MP, Vianey-Saban C, Parenti G, Andria G, Le Merrer M, Edery P, Offiah AC. Rossi M, et al. Pediatr Radiol. 2015 Jul;45(7):965-76. doi: 10.1007/s00247-014-3257-9. Epub 2015 Feb 3. Pediatr Radiol. 2015. PMID: 25646736 Review.
Nine other disorders are known, namely autosomal-recessive Antley-Bixler syndrome, Greenberg dysplasia, X-linked dominant chondrodysplasia punctata, X-linked recessive male emopamil-binding protein deficiency, CHILD syndrome, CK syndrome, sterol C4 methyloxidase-like deficiency, …
Nine other disorders are known, namely autosomal-recessive Antley-Bixler syndrome, Greenberg dysplasia, X-linked dominant chondrodysplasia p …
20 results