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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.JIMD Reports|December 21, 2016
Bone Health in Classic Galactosemia: Systematic Review and Meta-AnalysisBritt van Erven, Lindsey Welling, Sandra C van Calcar, et al.JIMD Reports|April 11, 2014
Newborn screening for galactosemia in the United States: looking back, looking around, and looking aheadBrook M Pyhtila, Kelly A Shaw, Samantha E Neumann, et al.JIMD Reports|March 26, 2014
Neurogenic bladder dysfunction presenting as urinary retention in neuronopathic Gaucher diseaseErin R McNamara, Jennifer Sullivan, Shashi K Nagaraj, et al.Pageof 127