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JIMD Reports|November 18, 2020
Vascular ring anomaly in a patient with phosphomannomutase 2 deficiency: A case report and review of the literatureZhen Qian, Jef Van den Eynde, Stephane Heymans, et al.JIMD Reports|November 18, 2020
Cellular and molecular outcomes of glutamine supplementation in the brain of succinic semialdehyde dehydrogenase-deficient miceMadalyn N Brown, K Michael Gibson, Michelle A Schmidt, et al.JIMD Reports|November 18, 2020
Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patientsSheela Nampoothiri, Dhanya Yesodharan, Amrita Bhattacherjee, et al.JIMD Reports|November 18, 2020
Cerebrotendinous xanthomatosis-associated diarrhea and response to chenodeoxycholic acid treatmentEric P Brass, Bianca M L Stelten, Aad VerripsJIMD Reports|February 20, 2020
Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next-generation sequencing gene panelGloria Muñoz, David García-Seisdedos, Crina Ciubotariu, et al.JIMD Reports|February 20, 2020
NGLY1 deficiency: Novel patient, review of the literature and diagnostic algorithmPatryk Lipiński, Anna Bogdańska, Agnieszka Różdżyńska-Świątkowska, et al.JIMD Reports|February 20, 2020
Neurotoxicity including posterior reversible encephalopathy syndrome after initiation of calcineurin inhibitors in transplanted methylmalonic acidemia patients: Two case reports and review of the literatureFemke Molema, Monique Williams, Janneke Langendonk, et al.JIMD Reports|March 11, 2018
Cognitive and Behavioural Outcomes of Paediatric Liver Transplantation for Ornithine Transcarbamylase DeficiencyLouise Crowe, Vicki Anderson, Winita Hardikar, et al.JIMD Reports|January 31, 2018
Beneficial Effect of BH4 Treatment in a 15-Year-Old Boy with Biallelic Mutations in DNAJC12Monique G M de Sain-van der Velden, Willemijn F E Kuper, Marie-Anne Kuijper, et al.JIMD Reports|December 16, 2017
Expert Opinion vs Patient Perspective in Treatment of Rare Disorders: Tooth Removal in Lesch-Nyhan Disease as an ExampleAdam C Cotton, R B Bell, H A JinnahPageof 127