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Molecular Genetics and Metabolism|March 21, 2006
Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesityRonny Jung, Anita Rauch, Gajja S Salomons, et al.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|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.The Journal of Clinical Endocrinology and Metabolism|February 15, 2007
Levothyroxine in euthyroid autoimmune thyroiditis and type 1 diabetes: a randomized, controlled trialBeate Karges, Rainer Muche, Ina Knerr, et al.HGG Advances|June 9, 2022
Translating principles of precision medicine into speech-language pathology: Clinical trial of a proactive speech and language intervention for infants with classic galactosemiaBeate Peter, Jennifer Davis, Lizbeth Finestack, et al.Orphanet Journal of Rare Diseases|September 21, 2018
Fertility in classical galactosaemia, a study of N-glycan, hormonal and inflammatory gene interactionsHugh-Owen Colhoun, Estela M Rubio Gozalbo, Annet M Bosch, et al.European Journal of Human Genetics : EJHG|January 7, 2016
Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesisAshwini Maratha, Henning Stockmann, Karen P Coss, 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.Fertility and Sterility|June 6, 2017
Fertility in adult women with classic galactosemia and primary ovarian insufficiencyBritt van Erven, Gerard T Berry, David Cassiman, et al.Journal of Inherited Metabolic Disease|June 10, 2019
Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiencyIna Knerr, Roberto Colombo, Jill Urquhart, et al.Pageof 8