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JIMD Reports|May 14, 2015
High Incidence of Biotinidase Deficiency from a Pilot Newborn Screening Study in Minas Gerais, BrazilMarilis T Lara, Juliana Gurgel-Giannetti, Marcos J B Aguiar, et al.JIMD Reports|September 3, 2025
Metabolic Control and Frequency of Clinical Monitoring Among Canadian Children With Phenylalanine Hydroxylase Deficiency: A Retrospective Cohort StudyNataliya Yuskiv, Ammar Saad, Beth K Potter, et al.JIMD Reports|June 22, 2015
Liver Fibrosis Associated with Iron Accumulation Due to Long-Term Heme-Arginate Treatment in Acute Intermittent Porphyria: A Case SeriesBarbara Willandt, Janneke G Langendonk, Katharina Biermann, et al.JIMD Reports|June 26, 2015
Exercise Intolerance and Myoglobinuria Associated with a Novel Maternally Inherited MT-ND1 MutationJabin Rafiq, Morten Duno, Elsebet Østergaard, et al.JIMD Reports|July 5, 2015
Pitfalls in Diagnosing Neuraminidase Deficiency: Psychosomatics and Normal Sialic Acid ExcretionImre F Schene, Viera Kalinina Ayuso, Monique de Sain-van der Velden, et al.JIMD Reports|May 27, 2015
Molecular Characterization of QDPR Gene in Iranian Families with BH4 Deficiency: Reporting Novel and Recurrent MutationsHannaneh Foroozani, Maryam Abiri, Shadab Salehpour, et al.JIMD Reports|August 3, 2018
Acute Hepatic Porphyrias in Colombia: An Analysis of 101 PatientsDaniel A Jaramillo-Calle, Daniel C Aguirre AcevedoJIMD Reports|July 16, 2018
An Electronic Questionnaire for Liver Assessment in Congenital Disorders of Glycosylation (LeQCDG): A Patient-Centered StudyD Marques-da-Silva, R Francisco, V Dos Reis Ferreira, et al.JIMD Reports|September 9, 2016
Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic CounsellingSabine Grønborg, Niklas Darin, Maria J Miranda, et al.JIMD Reports|May 17, 2017
Ketone Bodies as a Possible Adjuvant to Ketogenic Diet in PDHc Deficiency but Not in GLUT1 DeficiencyF Habarou, N Bahi-Buisson, E Lebigot, et al.Pageof 127