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JIMD Reports|July 7, 2014
Reversible keratopathy due to hypertyrosinaemia following intermittent low-dose nitisinone in alkaptonuria: a case reportR M K Stewart, M C Briggs, J C Jarvis, et al.JIMD Reports|July 7, 2014
Analysis of methylcitrate in dried blood spots by liquid chromatography-tandem mass spectrometryOsama Y Al-Dirbashi, Nathan McIntosh, Christine McRoberts, et al.JIMD Reports|November 26, 2013
Newborn screening for hunter disease: a small-scale feasibility studyG J G Ruijter, D A Goudriaan, A M Boer, et al.JIMD Reports|March 23, 2016
Switch from Sodium Phenylbutyrate to Glycerol Phenylbutyrate Improved Metabolic Stability in an Adolescent with Ornithine Transcarbamylase DeficiencyAlexander Laemmle, Tamar Stricker, Johannes HäberleJIMD Reports|May 22, 2016
Establishing New Cut-Off Limits for Galactose 1-Phosphate-Uridyltransferase Deficiency for the Dutch Newborn Screening ProgrammeE A Kemper, A Boelen, A M Bosch, et al.JIMD Reports|June 14, 2016
Relationships Between Childhood Experiences and Adulthood Outcomes in Women with PKU: A Qualitative AnalysisRachel M Roberts, Tamara Muller, Annabel Sweeney, et al.JIMD Reports|September 24, 2017
The Use of d2 and Benton Tests for Assessment of Attention Deficits and Visual Memory in Teenagers with PhenylketonuriaBozena Didycz, Magdalena Nitecka, Miroslaw Bik-MultanowskiJIMD Reports|September 8, 2017
Nitisinone-Induced Keratopathy in Alkaptonuria: A Challenging Diagnosis Despite Clinical SuspicionAndrew White, Michel C TchanJIMD Reports|April 15, 2016
Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal DiabetesNatascia Anastasio, Maja Tarailo-Graovac, Reem Al-Khalifah, et al.JIMD Reports|April 15, 2016
Quick Diagnosis of Alkaptonuria by Homogentisic Acid Determination in Urine Paper SpotsGabriella Jacomelli, Vanna Micheli, Giulia Bernardini, et al.Pageof 127