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JIMD Reports|February 28, 2016
Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle VariantsJuliette Bouchereau, Sandrine Vuillaumier Barrot, Thierry Dupré, et al.JIMD Reports|March 9, 2016
Rapid Desensitization for Immediate Hypersensitivity to Galsulfase Therapy in Patients with MPS VIZeynep Tamay, Gulden Gokcay, Fatih Dilek, et al.JIMD Reports|September 26, 2015
Application of an Image Cytometry Protocol for Cellular and Mitochondrial Phenotyping on Fibroblasts from Patients with Inherited DisordersPaula Fernandez-Guerra, M Lund, T J Corydon, et al.JIMD Reports|September 26, 2015
Recurrent Ventricular Tachycardia in Medium-Chain Acyl-Coenzyme A Dehydrogenase DeficiencyP Bala, S Ferdinandusse, S E Olpin, et al.JIMD Reports|September 28, 2015
SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature)Roeltje R Maas, Adela Della Marina, Arjan P M de Brouwer, et al.JIMD Reports|August 29, 2015
Screening for Attenuated Forms of Mucopolysaccharidoses in Patients with Osteoarticular Problems of Unknown EtiologyThabata Caroline da Rocha Siqueira, Carolina Fischinger Moura de Souza, Paulo Lompa, et al.JIMD Reports|August 26, 2015
News on Clinical Details and Treatment in PGM1-CDGEsther Schrapers, Laura C Tegtmeyer, Gunter Simic-Schleicher, et al.JIMD Reports|January 14, 2015
The biological clock and the molecular basis of lysosomal storage diseasesGianluigi Mazzoccoli, Tommaso Mazza, Manlio Vinciguerra, et al.JIMD Reports|July 30, 2015
Successful Domino Liver Transplantation from a Patient with Methylmalonic AcidemiaA Khanna, R Gish, S C Winter, et al.JIMD Reports|November 18, 2020
Familial DHCR7 genotype presenting as a very mild form of Smith-Lemli-Opitz syndrome and lethal holoprosencephalySuzanna E L Temple, Rani Sachdev, Carolyn EllawayPageof 127