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JIMD Reports|February 28, 2025
Treatment Beliefs Reflect Unmet Clinical Needs in Lysosomal Storage Diseases: An Opportunity for a Patient-Centered ApproachEleonore M Corazolla, Mirjam Langeveld, Marion M M G Brands, et al.JIMD Reports|November 20, 2019
The need for biochemical testing in beta-enolase deficiency in the genomic eraRalph Wigley, Renata S Scalco, Alice R Gardiner, et al.JIMD Reports|November 20, 2019
Large neutral amino acid status in association with P:T ratio and diet in adult and pediatric patients with phenylketonuriaTeresa D Douglas, Anita M Nucci, Ann M Berry, et al.JIMD Reports|April 13, 2013
Development of a Scoring System to Evaluate the Severity of Craniocervical Spinal Cord Compression in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome)Christian Möllmann, Christian G Lampe, Wibke Müller-Forell, et al.JIMD Reports|April 3, 2013
Defect of cobalamin intracellular metabolism presenting as diabetic ketoacidosis: a rare manifestationSheetal Sharda, Suresh Kumar Angurana, Mandeep Walia, et al.JIMD Reports|February 23, 2013
Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiencyEugène F Diekman, Carolien C A Boelen, Berthil H C M T Prinsen, et al.JIMD Reports|February 23, 2013
Temporal intradiploic dilative vasculopathy: an additional pathogenic factor for the hearing loss in fabry disease?Carla Pinto Moura, Carlos Soares, Daniela Seixas, et al.JIMD Reports|February 23, 2013
Hereditary intrinsic factor deficiency in chaldeansAmy C Sturm, Elizabeth C Baack, Michael B Armstrong, et al.JIMD Reports|February 23, 2013
The transforming growth factor-Beta signaling pathway involvement in cardiovascular lesions in mucopolysaccharidosis-IS Yano, C Li, Z PavlovaJIMD Reports|February 23, 2013
β-Galactosidosis in Patient with Intermediate GM1 and MBD PhenotypeTereza Moore, Jonathan A Bernstein, Sylvie Casson-Parkin, et al.Pageof 127