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Journal of Inherited Metabolic Disease|January 21, 2023
Validation of a targeted metabolomics panel for improved second-tier newborn screeningJustin Mak, Gang Peng, Anthony Le, et al.Molecular Genetics and Metabolism Reports|July 19, 2021
Profound neonatal lactic acidosis and renal tubulopathy in a patient with glycogen storage disease type IXɑ2 secondary to a de novo pathogenic variant in PHKA2J Andres Morales, Christina G Tise, Amrita Narang, 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.The New England Journal of Medicine|June 1, 2007
Survival after treatment with phenylacetate and benzoate for urea-cycle disordersGregory M Enns, Susan A Berry, Gerard T Berry, et al.Microsurgery|August 28, 2003
Free latissimus dorsi flap used in treatment of cerebral aspergillosis: a case report and review of the literatureAnuja K Antony, Roy W Hong, Manuel Amieva, et al.Journal of Neurosurgery|November 24, 2005
Identification of phenotypic neural stem cells in a pediatric astroblastomaStephen L Huhn, Yun Yung, Samuel Cheshier, et al.Eclinicalmedicine|January 31, 2024
Efficacy and safety of pegzilarginase in arginase 1 deficiency (PEACE): a phase 3, randomized, double-blind, placebo-controlled, multi-centre trialRossana Sanchez Russo, Serena Gasperini, Gillian Bubb, et al.Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences|May 11, 2013
A new LC-MS/MS method for the clinical determination of reduced and oxidized glutathione from whole bloodTereza Moore, Anthony Le, Anna-Kaisa Niemi, et al.Molecular Genetics and Metabolism|March 1, 2015
Long-term safety and efficacy of sapropterin: the PKUDOS registry experienceNicola Longo, Georgianne L Arnold, Gabriella Pridjian, et al.Pediatric Neurosurgery|May 28, 2008
Congenital glioblastoma multiforme: case report and review of the literatureLewis C Hou, Simon R Bababeygy, Vahe Sarkissian, et al.Pageof 14