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JIMD Reports|March 17, 2015
The Modulatory Effects of the Polymorphisms in GLA 5'-Untranslated Region Upon Gene Expression Are Cell-Type SpecificSusana Ferreira, Carlos Reguenga, João Paulo OliveiraJIMD Reports|March 17, 2015
Cobalamin C Disease Missed by Newborn Screening in a Patient with Low Carnitine LevelRebecca C Ahrens-Nicklas, Esra Serdaroglu, Colleen Muraresku, et al.JIMD Reports|March 28, 2015
Clinical Severity of PGK1 Deficiency Due To a Novel p.E120K Substitution Is Exacerbated by Co-inheritance of a Subclinical Translocation t(3;14)(q26.33;q12), Disrupting NUBPL GeneDezső David, Lígia S Almeida, Maristella Maggi, et al.JIMD Reports|July 21, 2020
The re-occurrence of cardiomyopathy in propionic acidemia after liver transplantationGerard T Berry, Elizabeth D Blume, Ann Wessel, et al.JIMD Reports|July 21, 2020
PMM2-CDG caused by uniparental disomy: Case report and literature reviewLaurien Vaes, George E Tiller, Belén Pérez, et al.JIMD Reports|July 21, 2020
An uncommon cause of early infantile liver disease and raised chitotriosidaseSrividya Sreekantam, Hina Rizvi, Rachel Brown, et al.JIMD Reports|July 21, 2020
The Lysosomal Diseases Testing Laboratory: A review of the past 47 yearsDavid A Wenger, Paola LuziJIMD Reports|July 21, 2020
Evaluation of 11 years of newborn screening for maple syrup urine disease in the Netherlands and a systematic review of the literature: Strategies for optimizationKevin Stroek, Anita Boelen, Marelle J Bouva, et al.JIMD Reports|March 31, 2015
The Kuvan(®) Adult Maternal Paediatric European Registry (KAMPER) Multinational Observational Study: Baseline and 1-Year Data in Phenylketonuria Patients Responsive to SapropterinFriedrich K Trefz, Ania C Muntau, Florian B Lagler, et al.JIMD Reports|May 8, 2023
Paracetamol toxicity in classic homocystinuria: Effect of N-acetylcysteine on total homocysteineNour Elkhateeb, Sarah Hyde, Sarah L Hogg, et al.Pageof 127