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Journal of Inherited Metabolic Disease|January 3, 2018
Chemical glycomics enrichment: imaging the recycling of sialic acid in living cellsPierre André Gilormini, Cédric Lion, Dorothée Vicogne, et al.Journal of Inherited Metabolic Disease|February 25, 2016
Unique plasma metabolomic signatures of individuals with inherited disorders of long-chain fatty acid oxidationColin S McCoin, Brian D Piccolo, Trina A Knotts, et al.Journal of Inherited Metabolic Disease|March 22, 2018
A family segregating lethal neonatal coenzyme Q10 deficiency caused by mutations in COQ9Amanda C Smith, Yoko Ito, Afsana Ahmed, et al.Journal of Inherited Metabolic Disease|February 13, 2019
Allogeneic hematopoietic stem cell transplantation with myeloablative conditioning for adult cerebral X-linked adrenoleukodystrophyNils Waldhüter, Wolfgang Köhler, Philipp G Hemmati, et al.Journal of Inherited Metabolic Disease|February 13, 2019
Long-term evaluation of urinary copper excretion and non-caeruloplasmin associated copper in Wilson disease patients under medical treatmentJan Pfeiffenberger, Christine Marie Lohse, Daniel Gotthardt, et al.Journal of Inherited Metabolic Disease|December 7, 2017
Plasma lipidomics as a diagnostic tool for peroxisomal disordersKatharina Herzog, Mia L Pras-Raves, Sacha Ferdinandusse, et al.Journal of Inherited Metabolic Disease|February 5, 2019
An evolutionary approach to optimizing glucose-6-phosphatase-α enzymatic activity for gene therapy of glycogen storage disease type IaLisa Zhang, Jun-Ho Cho, Irina Arnaoutova, et al.Journal of Inherited Metabolic Disease|January 24, 2019
Cardiac disease in mucopolysaccharidosis type IIIStephanie C M Nijmeijer, Rianne H A C M de Bruin-Bon, Frits A Wijburg, et al.Journal of Inherited Metabolic Disease|January 30, 2019
Focal cerebellar infarction as an initial sign of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodesAra Ko, Sang-Jun Lee, Young-Mock LeeJournal of Inherited Metabolic Disease|February 2, 2019
Cerebrospinal fluid biogenic amines depletion and brain atrophy in adult patients with phenylketonuriaAndrea Pilotto, Nenad Blau, Edytha Leks, et al.Pageof 429