4.2 Article

Treatment of Smith-Lemli-Opitz Syndrome and Other Sterol Disorders

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Biochemistry & Molecular Biology

7-Dehydrocholesterol-derived oxysterols and retinal degeneration in a rat model of Smith-Lemli-Opitz syndrome

Libin Xu et al.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS (2012)

Review Genetics & Heredity

Desmosterolosis-Phenotypic and Molecular Characterization of a Third Case and Review of the Literature

Christian P. Schaaf et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)

Article Genetics & Heredity

Adrenal Function in Smith-Lemli-Opitz Syndrome

Simona E. Bianconi et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)

Article Rheumatology

On-demand anakinra treatment is effective in mevalonate kinase deficiency

E. J. Bodar et al.

ANNALS OF THE RHEUMATIC DISEASES (2011)

Editorial Material Radiology, Nuclear Medicine & Medical Imaging

SPECT Imaging for Brain Improvement Quantification in a Patient With Cerebrotendinous Xanthomatosis

Albert Selva-O'Callaghan et al.

CLINICAL NUCLEAR MEDICINE (2011)

Article Biochemistry & Molecular Biology

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

Jenny Zolotushko et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2011)

Review Biochemistry & Molecular Biology

Smith-Lemli-Opitz syndrome

Andrea E. DeBarber et al.

EXPERT REVIEWS IN MOLECULAR MEDICINE (2011)

Review Biochemistry & Molecular Biology

Malformation syndromes caused by disorders of cholesterol synthesis

Forbes D. Porter et al.

JOURNAL OF LIPID RESEARCH (2011)

Letter Clinical Neurology

Visualisation of treatment response in a case of cerebrotendinous xanthomatosis

Stefan Seidel et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2011)

Article Developmental Biology

Review: Transport of maternal cholesterol to the fetal circulation

L. A. Woollett

PLACENTA (2011)

Letter Clinical Neurology

Botulinum toxin-responsive oromandibular dystonia in cerebrotendinous xanthomatosis

Ignacio J. Posada et al.

PARKINSONISM & RELATED DISORDERS (2011)

Article Multidisciplinary Sciences

The Hedgehog Pathway Promotes Blood-Brain Barrier Integrity and CNS Immune Quiescence

Jorge Ivan Alvarez et al.

SCIENCE (2011)

Article Genetics & Heredity

Analysis of Short-Term Behavioral Effects of Dietary Cholesterol Supplementation in Smith-Lemli-Opitz Syndrome

Elaine Tierney et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)

Letter Anesthesiology

Cerebrotendinous xanthomatosis and anaesthesia

B. W. P. Habaragamuwa et al.

BRITISH JOURNAL OF ANAESTHESIA (2010)

Article Biochemistry & Molecular Biology

Biological activities of 7-dehydrocholesterol-derived oxysterols: implications for Smith-Lemli-Opitz syndrome

Zeljka Korade et al.

JOURNAL OF LIPID RESEARCH (2010)

Article Biochemistry & Molecular Biology

Increasing cholesterol synthesis in 7-dehydrosterol reductase (DHCR7) deficient mouse models through gene transfer

Xavier Matabosch et al.

JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY (2010)

Article Pharmacology & Pharmacy

Antipsychotic Drugs Regulate Hedgehog Signaling by Modulation of 7-Dehydrocholesterol Reductase Levels

Matthias Lauth et al.

MOLECULAR PHARMACOLOGY (2010)

Article Biochemistry & Molecular Biology

Smith-Lemli-Opitz syndrome: pathogenesis, diagnosis and management

Forbes D. Porter

EUROPEAN JOURNAL OF HUMAN GENETICS (2008)

Article Biochemistry & Molecular Biology

Characterization of placental cholesterol transport: ABCA1 is a potential target for in utero therapy of Smith-Lemli-Opitz syndrome

Marie L. Lindegaard et al.

HUMAN MOLECULAR GENETICS (2008)

Article Endocrinology & Metabolism

Enhanced placental cholesterol efflux by fetal HDL in Smith-Lemli-Opitz syndrome

Katie T. Jenkins et al.

MOLECULAR GENETICS AND METABOLISM (2008)

Article Medicine, General & Internal

Allogeneic bone marrow transplantation in mevalonic aciduria

Benedicte Neven et al.

NEW ENGLAND JOURNAL OF MEDICINE (2007)

Article Endocrinology & Metabolism

Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS)

D. Haas et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2007)

Article Biochemistry & Molecular Biology

Cerebrotendinous xanthomatosis: case report with evidence of oxidative stress

Luis F. Gonzalez-Cuyar et al.

REDOX REPORT (2007)

Article Biochemistry & Molecular Biology

7-Dehydrocholesterol enhances ultraviolet A-induced oxidative stress in keratinocytes: Roles of NADPH oxidase, mitochondria, and lipid rafts

Antonio Valencia et al.

FREE RADICAL BIOLOGY AND MEDICINE (2006)

Article Genetics & Heredity

The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome

Darryn M. Sikora et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2006)

Article Gastroenterology & Hepatology

Defects in bile acid biosynthesis - Diagnosis and treatment

Kenneth D. R. Setchell et al.

JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION (2006)

Article Biochemistry & Molecular Biology

Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy

LS Correa-Cerro et al.

HUMAN MOLECULAR GENETICS (2006)

Review Hematology

Brain cholesterol:: Long secret life behind a barrier

I Björkhem et al.

ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY (2004)

Article Cardiac & Cardiovascular Systems

Statins promote potent systemic antioxidant effects through specific inflammatory pathways

MH Shishehbor et al.

CIRCULATION (2003)

Article Genetics & Heredity

Desmosterolosis presenting with multiple congenital anomalies and profound developmental delay

HC Andersson et al.

AMERICAN JOURNAL OF MEDICAL GENETICS (2002)

Article Genetics & Heredity

Simvastatin treatment in the SLO syndrome:: A safe approach?

L Starck et al.

AMERICAN JOURNAL OF MEDICAL GENETICS (2002)

Article Endocrinology & Metabolism

Neuroprotection by a bile acid in an acute stroke model in the rat

TMP Rodrigues et al.

JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM (2002)

Letter Psychology, Developmental

Smith-Lemli-Opitz syndrome

A Martin et al.

JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY (2001)

Review Endocrinology & Metabolism

Smith-Lemli-Opitz syndrome: The first malformation syndrome associated with defective cholesterol synthesis

KP Battaile et al.

MOLECULAR GENETICS AND METABOLISM (2000)

Article Anesthesiology

Anesthetic considerations in Smith-Lemli-Opitz syndrome

PTL Choi et al.

CANADIAN JOURNAL OF ANAESTHESIA-JOURNAL CANADIEN D ANESTHESIE (2000)

Review Genetics & Heredity

The Smith-Lemli-Opitz syndrome

RI Kelley et al.

JOURNAL OF MEDICAL GENETICS (2000)