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JIMD Reports|October 21, 2017
Fumarase Deficiency: A Safe and Potentially Disease Modifying Effect of High Fat/Low Carbohydrate DietB Ryder, F Moore, A Mitchell, et al.JIMD Reports|June 21, 2018
Short-Term Administration of Mycophenolate Is Well-Tolerated in CLN3 Disease (Juvenile Neuronal Ceroid Lipofuscinosis)Erika F Augustine, Christopher A Beck, Heather R Adams, et al.JIMD Reports|September 14, 2018
Oral Ganglioside Supplement Improves Growth and Development in Patients with Ganglioside GM3 Synthase DeficiencyHeng Wang, Valerie Sency, Paul McJarrow, et al.JIMD Reports|February 22, 2017
Lysosomal Acid Lipase Deficiency in 23 Spanish Patients: High Frequency of the Novel c.966+2T>G Mutation in Wolman DiseaseCarla Ruiz-Andrés, Elena Sellés, Angela Arias, et al.JIMD Reports|February 22, 2017
Favourable Outcome in Two Pregnancies in a Patient with 3-Hydroxy-3-Methylglutaryl-CoA Lyase DeficiencyDavid Santosa, Markus G Donner, Stephan Vom Dahl, et al.JIMD Reports|February 5, 2017
Hypogonadotropic Hypogonadism in Males with Glycogen Storage Disease Type 1Evelyn M Wong, Anna Lehman, Philip Acott, et al.JIMD Reports|March 10, 2017
Potential Misdiagnosis of Hyperhomocysteinemia due to Cystathionine Beta-Synthase Deficiency During PregnancySally P Stabler, Cynthia Freehauf, Robert H Allen, et al.JIMD Reports|September 10, 2019
Extent, impact, and predictors of diagnostic delay in Pompe disease: A combined survey approach to unveil the diagnostic odysseyFlorian B Lagler, Angelika Moder, Marianne Rohrbach, et al.JIMD Reports|September 10, 2019
Clinical findings in Brazilian patients with adult GM1 gangliosidosisLuciana Giugliani, Carlos Eduardo Steiner, Chong Ae Kim, et al.JIMD Reports|April 7, 2025
Neonatal Cholestasis Progressing to a Multisystem Syndrome With Liver Cirrhosis in Two Siblings With FARSA Deficiency: An Evolving Hepatological PhenotypeY Aelvoet, P Verloo, A Vanlander, et al.Pageof 127