Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders

[1]  María Martín,et al.  Activities at the Universal Protein Resource (UniProt) , 2013, Nucleic Acids Res..

[2]  Elina Ikonen,et al.  Desmosterol and DHCR24: unexpected new directions for a terminal step in cholesterol synthesis. , 2013, Progress in lipid research.

[3]  Yan Huang,et al.  An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia , 2012, Human mutation.

[4]  O. Lichtarge,et al.  Desmosterolosis—phenotypic and molecular characterization of a third case and review of the literature , 2011, American journal of medical genetics. Part A.

[5]  O. Birk,et al.  The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter , 2011, European Journal of Human Genetics.

[6]  Steven J. M. Jones,et al.  Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome. , 2010, American journal of human genetics.

[7]  H. Seo,et al.  DHCR24 gene knockout mice demonstrate lethal dermopathy with differentiation and maturation defects in the epidermis. , 2006, The Journal of investigative dermatology.

[8]  H. Andersson,et al.  Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay. , 2002, American journal of medical genetics.

[9]  Hans R. Waterham,et al.  Mutations in the 3β-Hydroxysterol Δ24-Reductase Gene Cause Desmosterolosis, an Autosomal Recessive Disorder of Cholesterol Biosynthesis , 2001 .

[10]  R. Winter,et al.  Clinical phenotype of desmosterolosis. , 1998, American journal of medical genetics.

[11]  S. Bae,et al.  Cholesterol biosynthesis from lanosterol: development of a novel assay method and characterization of rat liver microsomal lanosterol delta 24-reductase. , 1997, The Biochemical journal.

[12]  R. Kelley.  Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts. , 1995, Clinica chimica acta; international journal of clinical chemistry.

[13]  P. Vreken,et al.  Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis. , 2001, American journal of human genetics.