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Journal of Inherited Metabolic Disease|May 9, 2022
Oral administration of phenylalanine molecularly imprinted polymer (MIP) benefits PKU mouse modelMansour Torab, Majid Jafari-Sabet, Parvaneh Najafizadeh, et al.Journal of Inherited Metabolic Disease|July 2, 2022
Plasma carnitine concentrations in Medium-chain acyl-CoA dehydrogenase deficiency: lessons from an observational cohort studyEmmalie A Jager, Merit Schaafsma, Melanie M van der Klauw, et al.Journal of Inherited Metabolic Disease|December 11, 2022
Vitamin B5, a coenzyme A precursor, rescues TANGO2 deficiency disease-associated defects in Drosophila and human cellsParia Asadi, Miroslav P Milev, Djenann Saint-Dic, et al.Journal of Inherited Metabolic Disease|May 28, 2021
High dose genistein in Sanfilippo syndrome: A randomised controlled trialArunabha Ghosh, Stewart Rust, Kia Langford-Smith, et al.Journal of Inherited Metabolic Disease|December 29, 2020
MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: Meta-analysis and consensus guidelinesEric J Mallack, Bela R Turk, Helena Yan, et al.Journal of Inherited Metabolic Disease|May 27, 2021
A new D-galactose treatment monitoring index for PGM1-CDGEster Perales-Clemente, Kristen Liedtke, April Studinski, et al.Journal of Inherited Metabolic Disease|December 16, 2020
The mitochondria-targeted hydrogen sulfide donor AP39 improves health and mitochondrial function in a C. elegans primary mitochondrial disease modelBridget C Fox, Luke Slade, Roberta Torregrossa, et al.Journal of Inherited Metabolic Disease|December 16, 2020
Combined proteomic and lipidomic studies in Pompe disease allow a better disease mechanism understandingAnna Sidorina, Giulio Catesini, Stefano Levi Mortera, et al.Journal of Inherited Metabolic Disease|October 5, 2020
Seeking impact: Global perspectives on outcome measure selection for translational and clinical research for primary mitochondrial disordersAmy Goldstein, Shamima RahmanJournal of Inherited Metabolic Disease|October 9, 2020
Clinical presentation and long-term follow-up of dopamine beta hydroxylase deficiencyTessa Wassenberg, Jaap Deinum, Frans J van Ittersum, et al.Pageof 429