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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 EllawayJIMD Reports|November 18, 2020
Vascular ring anomaly in a patient with phosphomannomutase 2 deficiency: A case report and review of the literatureZhen Qian, Jef Van den Eynde, Stephane Heymans, et al.JIMD Reports|November 18, 2020
Cellular and molecular outcomes of glutamine supplementation in the brain of succinic semialdehyde dehydrogenase-deficient miceMadalyn N Brown, K Michael Gibson, Michelle A Schmidt, et al.JIMD Reports|November 18, 2020
Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patientsSheela Nampoothiri, Dhanya Yesodharan, Amrita Bhattacherjee, et al.Pageof 127