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JIMD Reports|February 23, 2013
Kinetic analyses guide the therapeutic decision in a novel form of moderate aromatic Acid decarboxylase deficiencyM Barth, V Serre, L Hubert, et al.JIMD Reports|February 23, 2013
Hyperoxaluria and rapid development of renal failure following a combined liver and kidney transplantation: emphasis on sequential transplantationAhmed M Alkhunaizi, Nouriya A Al-Sannaa, Wasim F RaslanJIMD Reports|February 23, 2013
Mitochondrial respiratory chain hepatopathies: role of liver transplantation. A case series of five patientsElisabeth De Greef, John Christodoulou, Ian E Alexander, et al.JIMD Reports|February 23, 2013
Glycine and L-arginine treatment causes hyperhomocysteinemia in cerebral creatine transporter deficiency patientsCristina Villar, Jaume Campistol, Carmen Fons, et al.JIMD Reports|February 23, 2013
Functional Characterization of Five Protoporphyrinogen oxidase Missense Mutations Found in Argentinean Variegate Porphyria PatientsManuel Méndez, Barbara X Granata, María J Morán Jiménez, et al.JIMD Reports|February 23, 2013
Galactokinase deficiency in a patient with congenital hyperinsulinismMashbat Bayarchimeg, Dunia Ismail, Amanda Lam, et al.JIMD Reports|February 23, 2013
Heart Failure Due to Severe Hypertrophic Cardiomyopathy Reversed by Low Calorie, High Protein Dietary Adjustments in a Glycogen Storage Disease Type IIIa PatientChristiaan P Sentner, Kadir Caliskan, Wim B Vletter, et al.JIMD Reports|February 23, 2013
The use of elevated doses of genistein-rich soy extract in the gene expression-targeted isoflavone therapy for Sanfilippo disease patientsVěra Malinová, Grzegorz Węgrzyn, Magdalena NarajczykJIMD Reports|February 23, 2013
Pregnancy during nitisinone treatment for tyrosinaemia type I: first human experienceA Vanclooster, R Devlieger, W Meersseman, et al.JIMD Reports|February 23, 2013
Molybdenum cofactor deficiency: a new HPLC method for fast quantification of s-sulfocysteine in urine and serumAbdel Ali Belaidi, Sita Arjune, Jose Angel Santamaria-Araujo, et al.Pageof 127