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Journal of Proteome Research|December 24, 2013
N-glycan abnormalities in children with galactosemiaKaren P Coss, Colin P Hawkes, Barbara Adamczyk, et al.Journal of Inherited Metabolic Disease|March 30, 2018
Pregnancy management and outcome in patients with four different tetrahydrobiopterin disordersO Kuseyri, A Weissbach, N Bruggemann, et al.Journal of Inherited Metabolic Disease|April 29, 2015
Clinical and genetic characterisation of infantile liver failure syndrome type 1, due to recessive mutations in LARSJillian P Casey, Suzanne Slattery, Melanie Cotter, et al.Journal of Inherited Metabolic Disease|December 10, 2020
Maple syrup urine disease: Clinical outcomes, metabolic control, and genotypes in a screened population after four decades of newborn bloodspot screening in the Republic of IrelandDaniel O'Reilly, Ellen Crushell, Joanne Hughes, et al.Neuropediatrics|June 1, 1996
Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiencyG F Hoffmann, S Athanassopoulos, A B Burlina, et al.Molecular Genetics and Metabolism|February 13, 2022
β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activityDoreen Dobritzsch, Judith Meijer, Rutger Meinsma, et al.Journal of Medical Genetics|April 20, 2016
A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotypeCharlotte L Alston, Caoimhe Howard, Monika Oláhová, et al.Journal of Medical Genetics|January 24, 2018
Catalogue of inherited disorders found among the Irish Traveller populationSally Ann Lynch, Ellen Crushell, Deborah M Lambert, et al.Archives of Disease in Childhood|May 5, 2017
Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencingArunabha Ghosh, Helene Schlecht, Lesley E Heptinstall, et al.The New England Journal of Medicine|November 13, 2014
Monocarboxylate transporter 1 deficiency and ketone utilizationPeter M van Hasselt, Sacha Ferdinandusse, Glen R Monroe, et al.Pageof 3