Showing results (21-30 of 40) with videos related to
Sort By:
Pageof 4
JIMD Reports|July 13, 2022
Management of pregnancy in a patient with long-chain 3-hydroxyacyl CoA dehydrogenase deficiencyLoai A Shakerdi, Jenny McNulty, Barbara Gillman, et al.JIMD Reports|April 10, 2017
Systematic Review and Meta-analysis of Intelligence Quotient in Early-Treated Individuals with Classical GalactosemiaLindsey Welling, Susan E Waisbren, Kevin M Antshel, 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.JIMD Reports|September 6, 2021
Abnormal N-glycan fucosylation, galactosylation, and sialylation of IgG in adults with classical galactosemia, influence of dietary galactose intakeEileen P Treacy, Sebastian Vencken, Annet M Bosch, et al.JIMD Reports|December 21, 2016
Bone Health in Classic Galactosemia: Systematic Review and Meta-AnalysisBritt van Erven, Lindsey Welling, Sandra C van Calcar, et al.American Journal of Medical Genetics. Part A|October 22, 2008
Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuriaPhillip Lee, Eileen P Treacy, Eric Crombez, et al.Human Reproduction Update|December 13, 2022
The hypergonadotropic hypogonadism conundrum of classic galactosemiaBritt Derks, Greysha Rivera-Cruz, Synneva Hagen-Lillevik, 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.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.Orphanet Journal of Rare Diseases|July 23, 2013
Fertility preservation in female classic galactosemia patientsBritt van Erven, Cynthia S Gubbels, Ron J van Golde, et al.Pageof 4