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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.
JIMD Reports|June 16, 2025
Placenta Pathologies in Two Patients With Glycogen Storage Disease Type Ia and PreeclampsiaV Laufs, A Hasenburg, M A Busch, et al.
JIMD Reports|May 16, 2025
Benefits of Integrated Social Care in the Management of Patients With Inborn Errors of MetabolismA Selvanathan, S Nazir, K van Wyk, et al.
JIMD Reports|May 8, 2025
Nutrition With Skimmed Breast Milk in an Infant With Long Chain 3-Hydroxyacyl-coA Dehydrogenase DeficiencyClara Alonso-Diaz, Diana Escuder-Vieco, Pilar Quijada-Fraile, et al.
JIMD Reports|May 7, 2025
Treatment and Improved Outcomes of Three Adult Patients With Guanidinoacetate Methyltransferase (GAMT) DeficiencyAngela Lee, Judith Weisenberg, Elizabeth Toolan, et al.
JIMD Reports|May 10, 2013
Spondyloepiphyseal dysplasias and bilateral legg-calvé-perthes disease: diagnostic considerations for mucopolysaccharidosesNancy J Mendelsohn, Timothy Wood, Rebecca A Olson, et al.
JIMD Reports|April 13, 2013
Outcome of perinatal hypophosphatasia in manitoba mennonites: a retrospective cohort analysisEdward C W Leung, Aizeddin A Mhanni, Martin Reed, et al.
JIMD Reports|February 23, 2013
Cholestatic Jaundice Associated with Carnitine Palmitoyltransferase IA DeficiencyA A M Morris, S E Olpin, M J Bennett, et al.
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