Congenital brain anomalies in distal cholesterol biosynthesis defects

R. C. M. Hennekam

doi:10.1007/s10545-005-7055-2

Congenital brain anomalies in distal cholesterol biosynthesis defects

R. C. M. Hennekam

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

Cholesterol is known to be a significant constituent of the central nervous system. It also plays an important role in developmental pathways to form the human brain, such as the Sonic Hedgehog pathway. Disturbances in the formation of cholesterol may therefore be expected to cause brain malformations and brain dysfunctions. Here a short review of the consequences of defects of the distal cholesterol pathways to brain formation and functioning is provided

Original language	English
Pages (from-to)	385-392
Journal	Journal of inherited metabolic disease
Volume	28
Issue number	3
DOIs	https://doi.org/10.1007/s10545-005-7055-2
Publication status	Published - 2005

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title = "Congenital brain anomalies in distal cholesterol biosynthesis defects",

abstract = "Cholesterol is known to be a significant constituent of the central nervous system. It also plays an important role in developmental pathways to form the human brain, such as the Sonic Hedgehog pathway. Disturbances in the formation of cholesterol may therefore be expected to cause brain malformations and brain dysfunctions. Here a short review of the consequences of defects of the distal cholesterol pathways to brain formation and functioning is provided",

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AB - Cholesterol is known to be a significant constituent of the central nervous system. It also plays an important role in developmental pathways to form the human brain, such as the Sonic Hedgehog pathway. Disturbances in the formation of cholesterol may therefore be expected to cause brain malformations and brain dysfunctions. Here a short review of the consequences of defects of the distal cholesterol pathways to brain formation and functioning is provided

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DO - 10.1007/s10545-005-7055-2

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JO - Journal of inherited metabolic disease

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Congenital brain anomalies in distal cholesterol biosynthesis defects

Abstract

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