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JIMD Reports|September 29, 2025
Splenic Artery Aneurysm in Gaucher Disease: A Hybrid Study Combining Case Report, Scoping Review, and Clinical SurveyPaolo Manzi, Anita Vergatti, Veronica Abate, et al.
JIMD Reports|January 26, 2026
Early Initiation of Enzyme Replacement Therapy in Infantile Onset Pompe Disease Improves Cardiac Outcomes: A Longitudinal AnalysisJennifer L Cohen, M Makenzie Beaman, Eleanor Rodriguez-Rassi, et al.
JIMD Reports|June 18, 2025
Investigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage DisorderMarya S Sabir, Laura Pollard, Lynne Wolfe, et al.
JIMD Reports|March 6, 2024
Specific GAG ratios in the diagnosis of mucopolysaccharidosesDéborah Mathis, Jean-Christophe Prost, Gabriela Maeder, et al.
JIMD Reports|March 6, 2024
5,10-methenyltetrahydrofolate synthetase deficiency: An extreme rare defect of folate metabolism in two Dutch siblingsLelde Liepina, Desiree E C Smith, Hidde Huidekoper, et al.
JIMD Reports|May 13, 2024
Normal transferrin glycosylation does not rule out severe ALG1 deficiencyInez Bosnyak, Mustafa Sadek, Wasantha Ranatunga, et al.
JIMD Reports|September 13, 2023
Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal womanMalak Ali Alghamdi, Anne O'Donnell-Luria, Naif A Almontashiri, et al.
JIMD Reports|September 13, 2023
Interstitial lung disease and pancreatic exocrine insufficiency in CADDS: Phenotypic expansion and literature reviewOliver Heath, Dinusha Pandithan, James Pitt, et al.
JIMD Reports|April 16, 2026
Teriparatide in Two Patients With Mucopolysaccharidosis Type IVBMark Wijnen, Evert F S van Velsen, J Gert-Jan Milhous, et al.
JIMD Reports|May 21, 2026
Neurological Outcomes of Newborn Screening-Identified Isovaleric Acidemia: A Case Series Exploring Initial C5 Acylcarnitine LevelsSharmila Kiss, Gary Lazarovski, Maureen Evans
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