Treatment of Smith-Lemli-Opitz syndrome and other sterol disorders

Liver Transplantation Followed by Allogeneic Hematopoietic Stem Cell Transplantation for Atypical Mevalonic Aciduria

(2012) S. Chaudhury et al.   AMERICAN JOURNAL OF TRANSPLANTATION

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

(2012) Libin Xu et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

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

(2011) Christian P. Schaaf et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Adrenal function in Smith-Lemli-Opitz syndrome

(2011) Simona E. Bianconi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

On-demand anakinra treatment is effective in mevalonate kinase deficiency

(2011) E. J. Bodar et al.   ANNALS OF THE RHEUMATIC DISEASES

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

(2011) Jenny Zolotushko et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Smith–Lemli–Opitz syndrome

(2011) Andrea E. DeBarber et al.   EXPERT REVIEWS IN MOLECULAR MEDICINE

Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay

(2011) Miao He et al.   JOURNAL OF CLINICAL INVESTIGATION

Botulinum toxin-responsive oromandibular dystonia in cerebrotendinous xanthomatosis

(2011) Ignacio J. Posada et al.   PARKINSONISM & RELATED DISORDERS

A Systematic Review of Medical Treatments for Children With Autism Spectrum Disorders

(2011) M. L. McPheeters et al.   PEDIATRICS

Review: Transport of maternal cholesterol to the fetal circulation

(2011) L.A. Woollett   PLACENTA

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

(2011) J. I. Alvarez et al.   SCIENCE

Cerebrotendinous xanthomatosis and anaesthesia

(2010) B.W.P. Habaragamuwa et al.   BRITISH JOURNAL OF ANAESTHESIA

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

(2010) Albert Selva-OʼCallaghan et al.   CLINICAL NUCLEAR MEDICINE

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

(2010) Zeljka Korade et al.   JOURNAL OF LIPID RESEARCH

Malformation syndromes caused by disorders of cholesterol synthesis

(2010) Forbes D. Porter et al.   JOURNAL OF LIPID RESEARCH

Visualisation of treatment response in a case of cerebrotendinous xanthomatosis

(2010) S. Seidel et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

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

(2010) Xavier Matabosch et al.   JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY

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

(2010) M. Lauth et al.   MOLECULAR PHARMACOLOGY

Analysis of short-term behavioral effects of dietary cholesterol supplementation in Smith-Lemli-Opitz syndrome

(2009) Elaine Tierney et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

ESI-MS/MS quantification of 7α-hydroxy-4-cholesten-3-one facilitates rapid, convenient diagnostic testing for cerebrotendinous xanthomatosis

(2009) Andrea E. DeBarber et al.   CLINICA CHIMICA ACTA

Effects of Dietary Cholesterol and Simvastatin on Cholesterol Synthesis in Smith-Lemli-Opitz Syndrome

(2009) Yen-Ming Chan et al.   PEDIATRIC RESEARCH

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

(2008) Forbes D Porter   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2008) M. L. Lindegaard et al.   HUMAN MOLECULAR GENETICS

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

(2008) Katie T. Jenkins et al.   MOLECULAR GENETICS AND METABOLISM