Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders (Q42715529)

5 November 2017

Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders (English)

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5 November 2017

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Cristina Dias

1

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author name string

Rosemarie Rupps

2

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5 November 2017

Benjamin Millar

3

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5 November 2017

Kunho Choi

4

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5 November 2017

Marco Marra

5

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5 November 2017

Michelle Demos

6

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5 November 2017

Lisa E Kratz

7

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5 November 2017

Cornelius F Boerkoel

8

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5 November 2017

25 June 2014

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Orphanet Journal of Rare Diseases

5 November 2017

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5 November 2017

9

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5 November 2017

94

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Activities at the Universal Protein Resource (UniProt)

5 November 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076431

Desmosterol and DHCR24: unexpected new directions for a terminal step in cholesterol synthesis.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076431

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076431

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076431

Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076431

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076431

Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076431

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076431

Clinical phenotype of desmosterolosis

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076431

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076431

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076431

Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4076431

16 August 2018

Identifiers

DOI

10.1186/1750-1172-9-94

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Dimensions Publication ID

5 November 2017

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5 November 2017

PubMed publication ID

24961299

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