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JIMD 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.JIMD Reports|July 10, 2017
Triheptanoin: A Rescue Therapy for Cardiogenic Shock in Carnitine-acylcarnitine Translocase DeficiencySidharth Mahapatra, Amitha Ananth, Nancy Baugh, et al.JIMD Reports|July 8, 2017
The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed PatientsMari-Anne Vals, Sander Pajusalu, Mart Kals, et al.JIMD Reports|August 31, 2016
Lethal Neonatal LTBL Associated with Biallelic EARS2 Variants: Case Report and Review of the Reported Neuroradiological FeaturesRenata Oliveira, Ewen W Sommerville, Kyle Thompson, et al.JIMD Reports|August 26, 2016
Delayed Infusion Reactions to Enzyme Replacement TherapiesZahra Karimian, Chester B Whitley, Kyle D Rudser, et al.JIMD Reports|May 4, 2018
A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 PatientsSara Musa, Wafaa Eyaid, Kimberli Kamer, et al.JIMD Reports|April 15, 2018
Neonatal Onset Interstitial Lung Disease as a Primary Presenting Manifestation of Mucopolysaccharidosis Type IDouglas Bush, Leighann Sremba, Kate Lomax, et al.JIMD Reports|April 15, 2018
Severe Leukoencephalopathy with Clinical Recovery Caused by Recessive BOLA3 MutationsC A Stutterd, N J Lake, H Peters, et al.Pageof 127