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JIMD Reports|May 6, 2015
Nitisinone Arrests but Does Not Reverse Ochronosis in Alkaptonuric MiceCraig M Keenan, Andrew J Preston, Hazel Sutherland, et al.JIMD Reports|June 18, 2015
GM2-Gangliosidosis, AB Variant: Clinical, Ophthalmological, MRI, and Molecular FindingsDeborah Renaud, Michael BrodskyJIMD Reports|September 2, 2025
Successful Treatment of Severe Hepatopulmonary Syndrome as a Rare Complication of Zellweger Spectrum DisorderRiya Mary Tharakan, Sanjay Rajwal, Bernd C SchwahnJIMD Reports|July 25, 2016
Management of Life-Threatening Tracheal Stenosis and Tracheomalacia in Patients with MucopolysaccharidosesChristoph Kampmann, Christiane M Wiethoff, Ralf G Huth, et al.JIMD Reports|May 12, 2021
Consideration of a metabolic disorder in the differential of mild developmental delay: A case of nonketotic hyperglycinemia revisited 36 years laterTimothy F Tramontana, Theodore E Wilson, Bryan E HainlineJIMD Reports|December 10, 2016
Atypical Presentation and Treatment Response in a Child with Familial Hypercholesterolemia Having a Novel LDLR MutationS Varma, A D McIntyre, R A HegeleJIMD Reports|March 29, 2017
Neonatal-Onset Hereditary Coproporphyria: A New Variant of Hereditary CoproporphyriaKosei Hasegawa, Hiroyuki Tanaka, Miho Yamashita, et al.JIMD Reports|April 11, 2014
Mortality in patients with morquio syndrome aChristine Lavery, Chris HendrikszJIMD Reports|April 11, 2014
Phenotypic variability in patients with fanconi-bickel syndrome with identical mutationsElena Fridman, Avraham Zeharia, Tal Markus-Eidlitz, et al.JIMD Reports|April 11, 2014
Successful management of enzyme replacement therapy in related fabry disease patients with severe adverse events by switching from agalsidase Beta (fabrazyme(®)) to agalsidase alfa (replagal (®))Kazuya Tsuboi, Hiroshi Yamamoto, Fuji Somura, et al.Pageof 127