Sterol metabolism disorders and neurodevelopment-an update

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

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

Periodic fever syndromes in Eastern and Central European countries: results of a pediatric multinational survey

(2012) Nataša Toplak et al.   Pediatric Rheumatology

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

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

Mevalonate Kinase Deficiency: A Survey of 50 Patients

(2011) B. Bader-Meunier et al.   PEDIATRICS

Cholesterol Metabolism Is Required for Intracellular Hedgehog Signal Transduction In Vivo

(2011) Rolf W. Stottmann et al.   PLoS Genetics

Hypomorphic Temperature-Sensitive Alleles of NSDHL Cause CK Syndrome

(2010) Keith W. McLarren et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Malformation syndromes caused by disorders of cholesterol synthesis

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

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

(2009) Patrick S Tarpey et al.   NATURE GENETICS

The blood–brain and the blood–cerebrospinal fluid barriers: function and dysfunction

(2009) Britta Engelhardt et al.   Seminars in Immunopathology

Fetal Blood-Brain Barrier P-Glycoprotein Contributes to Brain Protection During Human Development

(2008) Daniela Virgintino et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Long-Term Follow-Up, Clinical Features, and Quality of Life in a Series of 103 Patients With Hyperimmunoglobulinemia D Syndrome

(2008) Jeroen C. H. van der Hilst et al.   MEDICINE

Development of the human cerebral cortex: Boulder Committee revisited

(2008) Irina Bystron et al.   NATURE REVIEWS NEUROSCIENCE