Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders.

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2014 nî lūn-bûn

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2014年の論文

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2014年学术文章

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2014年学术文章

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2014年学术文章

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2014年学术文章

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2014年学术文章

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2014年學術文章

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2014年學術文章

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2014年學術文章

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Desmosterolosis: an illustrati ...... olesterol synthesis disorders.

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Desmosterolosis: an illustrati ...... olesterol synthesis disorders.

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Desmosterolosis: an illustrati ...... olesterol synthesis disorders.

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Desmosterolosis: an illustrati ...... olesterol synthesis disorders.

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Desmosterolosis: an illustrati ...... olesterol synthesis disorders.

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Desmosterolosis: an illustrati ...... olesterol synthesis disorders.

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Desmosterolosis: an illustrati ...... olesterol synthesis disorders.

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Benjamin Millar

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Cornelius F Boerkoel

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Kunho Choi

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Lisa E Kratz

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Marco Marra

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Michelle Demos

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Rosemarie Rupps

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P2860

Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis

Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay

Cholesterol biosynthesis from lanosterol: development of a novel assay method and characterization of rat liver microsomal lanosterol delta 24-reductase

DHCR24 gene knockout mice demonstrate lethal dermopathy with differentiation and maturation defects in the epidermis

Activities at the Universal Protein Resource (UniProt)

Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts.

Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome

Clinical phenotype of desmosterolosis.

The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter.

An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.

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10.1186/1750-1172-9-94

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Cristina Dias

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2014-06-25T00:00:00Z

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263432419

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