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JIMD Reports|June 15, 2016
Low Protein Formula: Consequences of Quantitative Effects of Pre-analytical Factors on Amino Acid Concentrations in Plasma of Healthy InfantsClaude Bachmann, Alexander Kainz, Elisabeth Haschke-BecherJIMD Reports|November 26, 2013
Abnormalities in glycogen metabolism in a patient with alpers' syndrome presenting with hypoglycemiaMariella Simon, Richard C Chang, Deeksha S Bali, et al.JIMD Reports|July 30, 2015
Friedreich Ataxia in Classical GalactosaemiaSiobhán Neville, Siobhan O'Sullivan, Bronagh Sweeney, et al.JIMD Reports|July 3, 2013
Propionic acidemia and optic neuropathy: a report of two casesCarolina Arias, Erna Raimann, Pilar Peredo, et al.JIMD Reports|July 4, 2013
Transient massive trimethylaminuria associated with food protein-induced enterocolitis syndromeNatalie B Miller, Avraham Beigelman, Elizabeth Utterson, et al.JIMD Reports|July 6, 2014
Fibrolamellar hepatocellular carcinoma mimicking ornithine transcarbamylase deficiencyRaashda A Sulaiman, Tarekegn GeberhiwotJIMD Reports|July 7, 2014
Reversal of respiratory failure in both neonatal and late onset isolated remethylation disordersA Broomfield, L Abulhoul, W Pitt, et al.JIMD Reports|July 9, 2014
Widening Phenotypic Spectrum of AADC Deficiency, a Disorder of Dopamine and Serotonin SynthesisGuy Helman, Maria Belen Pappa, Phillip L PearlJIMD Reports|January 4, 2016
Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation?Charlotte Thiels, Martin Fleger, Martina Huemer, et al.JIMD Reports|June 2, 2016
Four Years of Diagnostic Challenges with Tetrahydrobiopterin Deficiencies in Iranian PatientsShohreh Khatami, Soghra Rouhi Dehnabeh, Sirous Zeinali, et al.Pageof 127