Update on newborn dried bloodspot testing for cerebrotendinous xanthomatosis: An available high-throughput liquid-chromatography tandem mass spectrometry method
Open Access
- 1 June 2016
- journal article
- Published by Elsevier in Molecular Genetics and Metabolism Reports
- Vol. 7, 11-15
Abstract
No abstract availableKeywords
Funding Information
- National Institutes of Health (KL2TR000152)
- National Center for Advancing Translational Sciences
This publication has 16 references indexed in Scilit:
- Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatmentEuropean Journal of Pediatrics, 2015
- Neurological Outcome in Cerebrotendinous Xanthomatosis Treated With Chenodeoxycholic AcidClinical Neuropharmacology, 2013
- Improved tandem mass spectrometry (MS/MS) derivatized method for the detection of tyrosinemia type I, amino acids and acylcarnitine disorders using a single extraction processClinica Chimica Acta, 2011
- ESI-MS/MS quantification of 7α-hydroxy-4-cholesten-3-one facilitates rapid, convenient diagnostic testing for cerebrotendinous xanthomatosisClinica Chimica Acta, 2010
- Mutation in the Sterol 27‐Hydroxylase Gene Associated with Fatal Cholestasis in InfancyJournal of Pediatric Gastroenterology and Nutrition, 2005
- Mutations in the sterol 27‐hydoxylase gene (CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosisJournal of Inherited Metabolic Disease, 2002
- Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosisBrain, 2000
- Presence of Diarrhea and Absence of Tendon Xanthomas in Patients With Cerebrotendinous XanthomatosisArchives of Neurology, 2000
- Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin.Journal of Clinical Investigation, 1993
- Long-Term Treatment of Cerebrotendinous Xanthomatosis with Chenodeoxycholic AcidNew England Journal of Medicine, 1984