Showing results (71-80 of 248) with videos related to
Sort By:
Pageof 25
Journal of Inherited Metabolic Disease|January 1, 1993
Inherited disorders of GABA metabolismC Jakobs, J Jaeken, K M GibsonMolecular Genetics and Metabolism|December 24, 2023
Long-term comparative effectiveness of pegvaliase versus medical nutrition therapy with and without sapropterin in adults with phenylketonuriaBarbara K Burton, Gillian E Clague, Cary O Harding, et al.Molecular Genetics and Metabolism|September 17, 2017
Safety and efficacy of glycerol phenylbutyrate for management of urea cycle disorders in patients aged 2months to 2yearsSusan A Berry, Nicola Longo, George A Diaz, et al.Orphanet Journal of Rare Diseases|June 20, 2025
Intelligence quotient scores among early-treated phenylketonuria patients: results from a systematic literature reviewFiona O'Sullivan, Ioannis Tomazos, Francjan J van Spronsen, et al.European Journal of Pediatrics|December 1, 1988
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: review of 18 reported patientsK M Gibson, J Breuer, W L NyhanJournal of Inherited Metabolic Disease|September 19, 2007
Novel insights into L-2-hydroxyglutaric aciduria: mass isotopomer studies reveal 2-oxoglutaric acid as the metabolic precursor of L-2-hydroxyglutaric acidE A Struys, K M Gibson, C JakobsJournal of Virological Methods|June 1, 1993
Detection of HIV-1 in serum, using reverse transcription and the polymerase chain reaction (RT-PCR)K M Gibson, J Mori, J P ClewleyLancet (London, England)|April 19, 2014
Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicentre, phase 1 dose-escalation trialNicola Longo, Cary O Harding, Barbara K Burton, et al.Communications Biology|August 29, 2023
A G1528C Hadha knock-in mouse model recapitulates aspects of human clinical phenotypes for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiencyGaren Gaston, Shannon Babcock, Renee Ryals, et al.Ophthalmology|August 6, 2016
Characterization of Chorioretinopathy Associated with Mitochondrial Trifunctional Protein Disorders: Long-Term Follow-up of 21 CasesErin A Boese, Nieraj Jain, Yali Jia, et al.Pageof 25