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JIMD Reports|February 2, 2015
Tandem Duplication of Exons 1-7 Neither Impairs ATP7A Expression Nor Causes a Menkes Disease PhenotypeEun-Young Choi, Keyur Patel, Marie Reine Haddad, et al.JIMD Reports|January 22, 2015
Making the White Matter Matters: Progress in Understanding Canavan's Disease and Therapeutic Interventions Through Eight DecadesSeemin S Ahmed, Guangping GaoJIMD Reports|February 11, 2015
Disordered Eating and Body Esteem Among Individuals with Glycogen Storage DiseaseTheresa B Flanagan, Jill A Sutton, Laurie M Brown, et al.JIMD Reports|February 11, 2015
Hepatic Copper Accumulation: A Novel Feature in Transient Infantile Liver Failure Due to TRMU Mutations?Z Grover, P Lewindon, A Clousten, et al.JIMD Reports|March 13, 2015
Combined Sepiapterin Reductase and Methylmalonyl-CoA Epimerase Deficiency in a Second Patient: Cerebrospinal Fluid Polyunsaturated Fatty Acid Level and Follow-Up Under L-DOPA, 5-HTP and BH4 TrialsMichel Mazzuca, Marie-Anne Maubert, Léna Damaj, et al.JIMD Reports|February 26, 2015
Maternal Phenylketonuria: Long-term Outcomes in Offspring and Post-pregnancy Maternal CharacteristicsS E Waisbren, F Rohr, V Anastasoaie, et al.JIMD Reports|March 6, 2023
Recurrent symptoms of acute intermittent porphyria after biochemical normalization with givosiran-An ongoing clinical conundrumChristopher D Ma, Denise Faust, Herbert L BonkovskyJIMD Reports|March 6, 2023
Health-related quality of life and patient-reported outcome measurements in patients with cystinosisStefanie Witt, Kaja Kristensen, Katharina Hohenfellner, et al.JIMD Reports|August 13, 2016
Argininosuccinic Acid Lyase Deficiency Missed by Newborn ScreenRebecca D Ganetzky, Emma Bedoukian, Matthew A Deardorff, et al.JIMD Reports|June 22, 2015
High Incidence of Serologic Markers of Inflammatory Bowel Disease in Asymptomatic Patients with Glycogen Storage Disease Type IaNicole T Lawrence, Tayoot Chengsupanimit, Laurie M Brown, et al.Pageof 127