Clinical features of the Smith-Lemli-Opitz syndrome and treatment of the cholesterol metabolic defect

M. Irons; E. R. Elias; D. Abuelo; S. Tint; G. Salen

Clinical features of the Smith-Lemli-Opitz syndrome and treatment of the cholesterol metabolic defect

M. Irons^*, E. R. Elias, D. Abuelo, S. Tint, G. Salen

^*Corresponding author for this work

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

3 Scopus citations

Abstract

Patients with Smith-Lemli-Opitz syndrome have recently been shown to have an intern error in cholesterol biosynthesis. This results in a deficiency of cholesterol and an accumulation of cholesterol precursors. A treatment protocol has been developed to attempt to correct the biochemical abnormalities seen in affected patients. We have reviewed our present knowledge regarding this new inborn error and possible treatment modalities.

Original language	English (US)
Pages (from-to)	28-32
Number of pages	5
Journal	International Pediatrics
Volume	10
Issue number	1
State	Published - 1995
Externally published	Yes

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

Cite this

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title = "Clinical features of the Smith-Lemli-Opitz syndrome and treatment of the cholesterol metabolic defect",

abstract = "Patients with Smith-Lemli-Opitz syndrome have recently been shown to have an intern error in cholesterol biosynthesis. This results in a deficiency of cholesterol and an accumulation of cholesterol precursors. A treatment protocol has been developed to attempt to correct the biochemical abnormalities seen in affected patients. We have reviewed our present knowledge regarding this new inborn error and possible treatment modalities.",

author = "M. Irons and Elias, {E. R.} and D. Abuelo and S. Tint and G. Salen",

year = "1995",

language = "English (US)",

volume = "10",

pages = "28--32",

journal = "International Pediatrics",

issn = "0885-6265",

publisher = "Miami Children's Hospital Medical Journal Inc.",

number = "1",

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T1 - Clinical features of the Smith-Lemli-Opitz syndrome and treatment of the cholesterol metabolic defect

AU - Irons, M.

AU - Elias, E. R.

AU - Abuelo, D.

AU - Tint, S.

AU - Salen, G.

PY - 1995

Y1 - 1995

N2 - Patients with Smith-Lemli-Opitz syndrome have recently been shown to have an intern error in cholesterol biosynthesis. This results in a deficiency of cholesterol and an accumulation of cholesterol precursors. A treatment protocol has been developed to attempt to correct the biochemical abnormalities seen in affected patients. We have reviewed our present knowledge regarding this new inborn error and possible treatment modalities.

AB - Patients with Smith-Lemli-Opitz syndrome have recently been shown to have an intern error in cholesterol biosynthesis. This results in a deficiency of cholesterol and an accumulation of cholesterol precursors. A treatment protocol has been developed to attempt to correct the biochemical abnormalities seen in affected patients. We have reviewed our present knowledge regarding this new inborn error and possible treatment modalities.

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M3 - Article

AN - SCOPUS:0029058476

SN - 0885-6265

VL - 10

SP - 28

EP - 32

JO - International Pediatrics

JF - International Pediatrics

IS - 1

ER -

Clinical features of the Smith-Lemli-Opitz syndrome and treatment of the cholesterol metabolic defect

Abstract

ASJC Scopus subject areas

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