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pmid:12477489
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pmid:24459067
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pmid:
|
Kolb-Mäurer A et al. |
Conradi-Hünermann-Happle syndrome (X-linked dominant chondrodysplasia punctata) confirmed by plasma sterol and mutation analysis. |
2008 |
Acta Derm. Venereol. |
pmid:18176751
|
Svoboda MD et al. |
Treatment of Smith-Lemli-Opitz syndrome and other sterol disorders. |
2012 |
Am J Med Genet C Semin Med Genet |
pmid:23042642
|
Starck L et al. |
Simvastatin treatment in the SLO syndrome: a safe approach? |
2002 |
Am. J. Med. Genet. |
pmid:12407710
|
Langius FA et al. |
Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome. |
2003 |
Am. J. Med. Genet. A |
pmid:12949967
|
Aughton DJ et al. |
X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male. |
2003 |
Am. J. Med. Genet. A |
pmid:12503102
|
Milunsky JM et al. |
Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in EBP. |
2003 |
Am. J. Med. Genet. A |
pmid:12503101
|
Sikora DM et al. |
The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome. |
2006 |
Am. J. Med. Genet. A |
pmid:16761297
|
Becker S et al. |
LC-MS/MS-based quantification of cholesterol and related metabolites in dried blood for the screening of inborn errors of sterol metabolism. |
2015 |
Anal Bioanal Chem |
pmid:25963649
|
Starck L and Lövgren A |
Diagnosis of Smith-Lemli-Opitz syndrome from stored filter paper blood specimens. |
2000 |
Arch. Dis. Child. |
pmid:10833186
|
Lin DS et al. |
The effects of sterol structure upon sterol esterification. |
2010 |
Atherosclerosis |
pmid:19679306
|
Cañueto J et al. |
The role of the abnormalities in the distal pathway of cholesterol biosynthesis in the Conradi-Hünermann-Happle syndrome. |
2014 |
Biochim. Biophys. Acta |
pmid:24036494
|
Sauer SW et al. |
Severe dysfunction of respiratory chain and cholesterol metabolism in Atp7b(-/-) mice as a model for Wilson disease. |
2011 |
Biochim. Biophys. Acta |
pmid:21920437
|
Paila YD et al. |
Signaling by the human serotonin(1A) receptor is impaired in cellular model of Smith-Lemli-Opitz Syndrome. |
2008 |
Biochim. Biophys. Acta |
pmid:18381059
|
Eapen BR |
Photosensitivity in Smith-Lemli-Opitz syndrome: a flux balance analysis of altered metabolism. |
2007 |
Bioinformation |
pmid:18188427
|
Yu H et al. |
Selective reconstitution of liver cholesterol biosynthesis promotes lung maturation but does not prevent neonatal lethality in Dhcr7 null mice. |
2007 |
BMC Dev. Biol. |
pmid:17408495
|
Cañueto J et al. |
Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature. |
2012 |
Br. J. Dermatol. |
pmid:22121851
|
Jira PE et al. |
Pitfalls in measuring plasma cholesterol in the Smith-Lemli-Opitz syndrome. |
1997 |
Clin. Chem. |
pmid:8990234
|