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JIMD Reports|March 6, 2024
Evaluation, in a highly specialised enzyme laboratory, of a digital microfluidics platform for rapid assessment of lysosomal enzyme activity in dried blood spotsRohit Hirachan, Alistair Horman, Derek Burke, et al.JIMD Reports|May 13, 2024
Pediatric palliative care for metabolic diseases: 20-year epidemiological survey of outpatients at a Brazilian quaternary hospitalGustavo Marquezani Spolador, Clarissa Bueno, Rita Tiziana Verardo Polastrini, et al.JIMD Reports|November 6, 2023
Lysinuric protein intolerance exhibiting renal tubular acidosis/Fanconi syndrome in a Japanese womanHiroaki Hanafusa, Katsuya Nakamura, Yuji Kamijo, et al.JIMD Reports|February 25, 2026
Antenatal and Neonatal Management of Siblings With Carbonic Anhydrase VA DeficiencySophie Manoy, Tahlee Minto, Kalliope Demetriou, et al.JIMD Reports|November 8, 2024
Huppke-Brendel syndrome: Novel cases and a therapeutic trial with ketogenic diet and N-acetylcysteineKatarina Šikić, Tessa M A Peters, Udo Engelke, et al.JIMD Reports|June 27, 2016
Difficulties in Daily Life and Associated Factors, and QoL of Children with Inherited Metabolic Disease and Their Parents in Japan: A Literature ReviewKeiko Yamaguchi, Rie Wakimizu, Mitsuru KubotaJIMD Reports|April 21, 2018
Parenting a Child with Phenylketonuria: An Investigation into the Factors That Contribute to Parental DistressOlivia Ambler, Emma Medford, Dougal J HareJIMD Reports|May 11, 2026
Progressive White Matter Changes in Mitochondrial Disease: A Quantitative MRI StudyNora Mickelsson, Jussi Hirvonen, Mika H MartikainenJIMD Reports|February 3, 2026
Metabolic Stroke: Atypical Presentation of Succinic Semialdehyde Dehydrogenase DeficiencySharmila Kiss, Richard J Leventer, Cormac Duff, et al.JIMD Reports|June 10, 2026
Expanding the MRPS34 Genotype-Phenotype Correlation: Two Novel Cases and a Cohort ReviewAlberte Aspaas Lundquist, Sumit Parikh, Thomas van Overeem Hansen, et al.Pageof 127