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JIMD Reports|April 22, 2014
Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus RecommendationsClara D M van Karnebeek, Sylvia Stockler-Ipsiroglu, Sravan Jaggumantri, et al.
JIMD Reports|January 13, 2017
False-Positive Newborn Screen Using the Beutler Spot Assay for Galactosemia in Glucose-6-Phosphate Dehydrogenase DeficiencyGrace Stuhrman, Stefanie J Perez Juanazo, Kea Crivelly, et al.
JIMD Reports|March 2, 2017
Widening the Heterogeneity of Leigh Syndrome: Clinical, Biochemical, and Neuroradiologic Features in a Patient Harboring a NDUFA10 MutationFrancesca Minoia, Marta Bertamino, Paolo Picco, et al.
JIMD Reports|March 2, 2017
Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of MetabolismNina A Zeltner, Matthias R Baumgartner, Aljona Bondarenko, et al.
JIMD Reports|March 10, 2017
Normal Neurological Development During Infancy Despite Massive Hyperammonemia in Early Treated NAGS DeficiencyHallvard Reigstad, Berit Woldseth, Johannes Häberle
JIMD Reports|February 22, 2017
Irreversibility of Symptoms with Biotin Therapy in an Adult with Profound Biotinidase DeficiencyPatrick Ferreira, Alicia Chan, Barry Wolf
JIMD Reports|January 26, 2017
What Is the Best Blood Sampling Time for Metabolic Control of Phenylalanine and Tyrosine Concentrations in Tyrosinemia Type 1 Patients?Esther van Dam, Anne Daly, Gineke Venema-Liefaard, et al.
JIMD Reports|October 27, 2016
Inhaled Sargramostim Induces Resolution of Pulmonary Alveolar Proteinosis in Lysinuric Protein IntoleranceLaura M Tanner, Johanna Kurko, Maaria Tringham, et al.
JIMD Reports|November 6, 2016
COXPD9 an Evolving Multisystem Disease; Congenital Lactic Acidosis, Sensorineural Hearing Loss, Hypertrophic Cardiomyopathy, Cirrhosis and Interstitial NephritisC Bursle, A Narendra, R Chuk, et al.
JIMD Reports|May 5, 2016
Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case ReportMari Mori, Lauren A Bailey, Januario Estrada, et al.
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