Showing results (411-420 of 1,261) with videos related to
Sort By:
Pageof 127
JIMD Reports|January 21, 2021
Pancreatitis in multiple acyl CoA dehydrogenase deficiency: An underdiagnosed complicationNour Elkhateeb, Anupam Chakrapani, James Davison, et al.JIMD Reports|January 21, 2021
Is serum biotinidase enzyme activity a potential marker of perturbed glucose and lipid metabolism?Patrick Forny, Patricie Burda, Peter Bode, et al.JIMD Reports|January 21, 2021
Normal reference ranges for urinary δ-aminolevulinic acid and porphobilinogen levelsSagar Agarwal, Bahru Habtemarium, Yuanxin Xu, et al.JIMD Reports|January 21, 2021
Outcomes of patients with cobalamin C deficiency: A single center experienceDanielle K Bourque, Lizbeth E Mellin-Sanchez, Garrett Bullivant, et al.JIMD Reports|September 10, 2019
Iron-sulfur cluster ISD11 deficiency (LYRM4 gene) presenting as cardiorespiratory arrest and 3-methylglutaconic aciduriaMargarida Paiva Coelho, Joana Correia, Aureliano Dias, et al.JIMD Reports|September 10, 2019
Transiently elevated plasma methionine, S-adenosylmethionine and S-adenosylhomocysteine: Unreported laboratory findings in a patient with NGLY1 deficiency, a congenital disorder of deglycosylationCaitlin A Chang, Xing-Chang Wei, Steven R Martin, et al.JIMD Reports|September 10, 2019
Case series of sebelipase alfa hypersensitivity reactions and successful sebelipase alfa rapid desensitizationMichelle F Huffaker, Anne Y Liu, Gregory M Enns, et al.JIMD Reports|September 10, 2019
Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responsesEmmanuel Scalais, Elise Osterheld, Christine Geron, et al.JIMD Reports|September 7, 2018
Reversible Cerebral White Matter Abnormalities in HomocystinuriaNaila Ismayilova, Andrew D MacKinnon, Helen Mundy, et al.JIMD Reports|January 2, 2026
Efzimfotase Alfa Improves Respiratory Capacity in Muscle Tissue From a Mouse Model of HPPDenise Devore, Juan Ruanova, Walter Voegtli, et al.Pageof 127