Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
Successful treatment of infantile oxysterol 7α-hydroxylase deficiency with oral chenodeoxycholic acid.
Tang YP et al.
Bmc Gastroenterology, 2021
Clinical characteristics of Taiwanese patients with Hereditary spastic paraplegia type 5.
Chou CT et al.
Annals of Clinical and Translational Neurology, 2020
AKR1D1 and CYP7B1 mutations in patients with inborn errors of bile acid metabolism: Possibly underdiagnosed diseases.
Chen JY et al.
Pediatrics and Neonatology, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Complete Recovery of Oxysterol 7α-Hydroxylase Deficiency by Living Donor Transplantation in a 4-Month-Old Infant: the First Korean Case Report and Literature Review.
Hong J et al.
Journal of Korean Medical Science, 2018
Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5.
Marelli C et al.
Brain : a Journal of Neurology, 2018
Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial.
Schöls L et al.
Brain : a Journal of Neurology, 2017
Liver disease in infancy caused by oxysterol 7 α-hydroxylase deficiency: successful treatment with chenodeoxycholic acid.
Dai D et al.
Journal of Inherited Metabolic Disease, 2014
Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations.
Arnoldi A et al.
Clinical Genetics, 2012
Comparative modeling of 25-hydroxycholesterol-7α-hydroxylase (CYP7B1): ligand binding and analysis of hereditary spastic paraplegia type 5 CYP7B1 mutations.
Siam A et al.
Journal of Molecular Modeling, 2012
Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients.
Schlipf NA et al.
Clinical Genetics, 2011
Disorders of bile acid synthesis.
Clayton PT
Journal of Inherited Metabolic Disease, 2011
Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis.
Schüle R et al.
Journal of Lipid Research, 2010
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.
Goizet C et al.
Brain : a Journal of Neurology, 2009
Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration.
Tsaousidou MK et al.
American Journal of Human Genetics, 2008
Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7alpha-hydroxylase gene causes severe neonatal liver disease.
Setchell KD et al.
The Journal of Clinical Investigation, 1998
Congenital Bile Acid Synthesis Defect Type 3 With Severe Neonatal Cholestasis.
Vij M et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0