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JIMD Reports|March 11, 2020
Cavitating and tigroid-like leukoencephalopathy in a case of NDUFA2-related disorderMarianna Alagia, Gerarda Cappuccio, Annalaura Torella, et al.JIMD Reports|March 11, 2020
The c.1A > C start codon mutation in CLN3 is associated with a protracted disease courseWillemijn F E Kuper, Claudia van Alfen, Linda van Eck, et al.JIMD Reports|March 11, 2020
Improvement of diagnostic yield in carbamoylphosphate synthetase 1 (CPS1) molecular genetic investigation by RNA sequencingJasmine Isler, Véronique Rüfenacht, Corinne Gemperle, et al.JIMD Reports|March 17, 2021
Expression of tyrosine pathway enzymes in mice demonstrates that homogentisate 1,2-dioxygenase deficiency in the liver is responsible for homogentisic acid-derived ochronotic pigmentationPeter J M Wilson, Lakshminarayan R Ranganath, George Bou-Gharios, et al.JIMD Reports|March 17, 2021
Monitoring phenylalanine concentrations in the follow-up of phenylketonuria patients: An inventory of pre-analytical and analytical variationKarlien L M Coene, Corrie Timmer, Susan M I Goorden, et al.JIMD Reports|March 17, 2021
Enzyme replacement therapy interruption in mucopolysaccharidosis type IVA patients and its impact in different clinical outcomesJuan Politei, Gloria Liliana Porras-Hurtado, Norberto Guelbert, et al.JIMD Reports|January 21, 2021
Three-year follow up of using combination therapy with fresh-frozen plasma and iron chelation in a patient with acaeruloplasminemiaAndreas Tridimas, Godfrey T Gillett, Sally Pollard, et al.JIMD Reports|January 21, 2021
Three successful pregnancies in a patient with glycogen storage disease type 0Sarah C Grünert, Stefanie Rosenbaum-Fabian, Luciana Hannibal, et al.JIMD Reports|January 21, 2021
Impact of trimethylaminuria on daily psychosocial functioningDaniel Roddy, Philomena McCarthy, Darragh Nerney, et al.JIMD Reports|January 21, 2021
Pregnancy outcome in women with Gaucher disease type 1 who had unplanned pregnancies during eliglustat clinical trialsElena Lukina, Manisha Balwani, Nadia Belmatoug, et al.Pageof 127