The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter.
about
The Effect of Small Molecules on Sterol Homeostasis: Measuring 7-Dehydrocholesterol in Dhcr7-Deficient Neuro2a Cells and Human FibroblastsNeuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review.Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes.Morphometric variability of neuroimaging features in children with agenesis of the corpus callosum.A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4A.Signaling regulates activity of DHCR24, the final enzyme in cholesterol synthesis.From cholesterogenesis to steroidogenesis: role of riboflavin and flavoenzymes in the biosynthesis of vitamin D.Disorders of sterol synthesis: beyond Smith-Lemli-Opitz syndrome.Treatment of Smith-Lemli-Opitz syndrome and other sterol disordersA comprehensive machine-readable view of the mammalian cholesterol biosynthesis pathway.Sterol metabolism disorders and neurodevelopment-an update.Desmosterol accumulation in users of amiodarone.E2012-induced cataract and its predictive biomarkers.Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders.Desmosterolosis presenting with multiple congenital anomalies.Antenatal manifestations of inborn errors of metabolism: biological diagnosis.Interstitial 1p32.1p32.3 deletion in a patient with multiple congenital anomalies.Antenatal manifestations of inborn errors of metabolism: prenatal imaging findings,-Dimethyl-3β-hydroxycholenamide Reduces Retinal Cholesterol via Partial Inhibition of Retinal Cholesterol Biosynthesis Rather Than its Liver X Receptor Transcriptional Activity
P2860
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P2860
The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter.
description
2011 nî lūn-bûn
@nan
2011 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
The desmosterolosis phenotype: ...... osum and loss of white matter.
@ast
The desmosterolosis phenotype: ...... osum and loss of white matter.
@en
type
label
The desmosterolosis phenotype: ...... osum and loss of white matter.
@ast
The desmosterolosis phenotype: ...... osum and loss of white matter.
@en
prefLabel
The desmosterolosis phenotype: ...... osum and loss of white matter.
@ast
The desmosterolosis phenotype: ...... osum and loss of white matter.
@en
P2093
P2860
P356
P1476
The desmosterolosis phenotype: ...... osum and loss of white matter.
@en
P2093
Barak Markus
Hagit Flusser
Ilan Shelef
Jenny Zolotushko
Maura Heverin
Ohad S Birk
Sara Sivan
Yshaia Langer
P2860
P2888
P304
P356
10.1038/EJHG.2011.74
P577
2011-05-11T00:00:00Z
P5875
P6179
1027603981