Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
[Congenital bile acid synthetic disorder type 3 caused by CYP7B1 gene variation in 2 cases and literature review].
Wang CH et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2024
Genetic background and clinical characteristics of infantile hyperammonemia.
Li M et al.
Translational Pediatrics, 2023
Chenodeoxycholic acid rescues axonal degeneration in induced pluripotent stem cell-derived neurons from spastic paraplegia type 5 and cerebrotendinous xanthomatosis patients.
Mou Y et al.
Orphanet Journal of Rare Diseases, 2023
Clinical and genetic spectrum of hereditary spastic paraplegia in Chinese children.
Wang J et al.
Developmental Medicine and Child Neurology, 2023
The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia.
Mahungu AC et al.
Frontiers in Neurology, 2023
Childhood-onset hereditary spastic paraplegia and its treatable mimics.
Ebrahimi-Fakhari D et al.
Molecular Genetics and Metabolism, 2022
Successful treatment of an infant with congenital bile acid synthesis disorder type 3 by ursodeoxycholic acid: a case report.
Mo W et al.
Journal of Medical Case Reports, 2022
A review of the genetic spectrum of hereditary spastic paraplegias, inherited neuropathies and spinal muscular atrophies in Africans.
Mahungu AC et al.
Orphanet Journal of Rare Diseases, 2022
Clinical Features and Genetic Spectrum of Patients With Clinically Suspected Hereditary Progressive Spastic Paraplegia.
Shi Y et al.
Frontiers in Neurology, 2022
Clinical and genetic characterization of a Taiwanese cohort with spastic paraparesis combined with cerebellar involvement.
Lan MY et al.
Frontiers in Neurology, 2022
Potential markers for sample size estimations in hereditary spastic paraplegia type 5.
Lin Q et al.
Orphanet Journal of Rare Diseases, 2021
Successful treatment of infantile oxysterol 7α-hydroxylase deficiency with oral chenodeoxycholic acid.
Tang YP et al.
Bmc Gastroenterology, 2021
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 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
[Clinical features and C12orf65 mutations of autosomal recessive spastic paraplegia-55: a case report].
Lin SZ et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2019
Clinical features and genetic spectrum in Chinese patients with recessive hereditary spastic paraplegia.
Wei Q et al.
Translational Neurodegeneration, 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
Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China.
Dong EL et al.
Molecular Neurodegeneration, 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
Clinical and genetic analysis of Taiwanese patients with hereditary spastic paraplegia type 5.
Lan MY et al.
European Journal of Neurology, 2015
The usefulness of whole-exome sequencing in routine clinical practice.
Iglesias A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2014
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
CYP7B1: novel mutations and magnetic resonance spectroscopy abnormalities in hereditary spastic paraplegia type 5A.
Roos P et al.
Acta Neurologica Scandinavica, 2014
Structural and dynamic basis of human cytochrome P450 7B1: a survey of substrate selectivity and major active site access channels.
Cui YL et al.
Chemistry (weinheim an Der Bergstrasse, Germany), 2013
Neonatal cholestasis with increased 3β-monohydroxy-Δ⁵ bile acids in serum and urine: not necessarily primary oxysterol 7α hydroxylase deficiency.
Kimura A et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2012
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
Successful heterozygous living donor liver transplantation for an oxysterol 7α-hydroxylase deficiency in a Japanese patient.
Mizuochi T et al.
Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society, 2011
Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients.
Schlipf NA et al.
Clinical Genetics, 2011
Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity.
Boukhris A et al.
Clinical Genetics, 2009
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.
Goizet C et al.
Brain : a Journal of Neurology, 2009
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
Dried blood spot-based newborn screening for bile acid synthesis disorders, Zellweger spectrum disorder, and Niemann-Pick type C1 by detection of bile acid metabolites.
Muto Y et al.
Molecular Genetics and Metabolism, 0