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JIMD Reports|July 30, 2017
Mitochondrial Encephalopathy and Transient 3-Methylglutaconic Aciduria in ECHS1 Deficiency: Long-Term Follow-UpIrene C Huffnagel, Egbert J W Redeker, Liesbeth Reneman, et al.JIMD Reports|July 16, 2017
Longitudinal Changes in White Matter Fractional Anisotropy in Adult-Onset Niemann-Pick Disease Type C Patients Treated with MiglustatElizabeth A Bowman, Dennis Velakoulis, Patricia Desmond, et al.JIMD Reports|July 14, 2017
Cardiovascular Histopathology of a 11-Year Old with Mucopolysaccharidosis VII Demonstrates Fibrosis, Macrophage Infiltration, and Arterial Luminal StenosisValerie Lew, Louis Pena, Robert Edwards, et al.JIMD Reports|April 28, 2016
Acute Metabolic Crises in Maple Syrup Urine Disease After Liver Transplantation from a Related Heterozygous Living DonorAisha Al-Shamsi, Alastair Baker, Anil Dhawan, et al.JIMD Reports|January 3, 2018
Long-Term Systematic Monitoring of Four Polish Transaldolase Deficient PatientsPatryk Lipiński, Joanna Pawłowska, Teresa Stradomska, et al.JIMD Reports|September 9, 2020
Successful management of a neonate with OTC deficiency presenting with hyperammonemia and severe cardiac dysfunction with extracorporeal membrane oxygenation support and continuous renal replacement therapyAdrian C Mattke, Fumiaki Shikata, James McGill, et al.JIMD Reports|September 9, 2020
Early biochemical effects of velmanase alfa in a 7-month-old infant with alpha-mannosidosisLucia Santoro, Lucia Zampini, Lucia Padella, et al.JIMD Reports|September 9, 2020
Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in JordanCarla Carducci, Wajdi Amayreh, Haneen Ababneh, et al.JIMD Reports|September 9, 2020
Use of skimmed breast milk for an infant with a long-chain fatty acid oxidation disorder: A novel therapeutic interventionAmy Kritzer, Stacey Tarrant, Karen Sussman-Karten, et al.Pageof 127