Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency
Wong, Sunnie Yan-Wai, BA, Beamer, Lesa J., PhD, Gadomski, Therese, BS, Honzik, Tomas, MD, PhD, Mohamed, Miski, MD, PhD, Wortmann, Saskia B., MD, PhD, Brocke Holmefjord, Katja S., MD, Mork, Marit, MD, Bowling, Francis, MD, PhD, Sykut-Cegielska, Jolanta, MD, PhD, Koch, Dieter, MD, Ackermann, Amanda, MD, PhD, Stanley, Charles A., MD, Rymen, Daisy, MD, PhD, Zeharia, Avraham, MD, Al-Sayed, Moeen, MD, Marquardt, Thomas, MD, Jaeken, Jaak, MD, PhD, Lefeber, Dirk, PhD, Conrad, Donald F., PhD, Kozicz, Tamas, MD, PhD, Morava, Eva, MD, PhD
Published in The Journal of pediatrics (01.08.2016)
Published in The Journal of pediatrics (01.08.2016)
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B4GALT1-Congenital Disorders of Glycosylation Presents as a Non-Neurologic Glycosylation Disorder with Hepatointestinal Involvement
Guillard, Maïlys, Morava, Eva, MD, PhD, de Ruijter, Jorg, Roscioli, Tony, MD, PhD, Penzien, Johann, MD, PhD, van den Heuvel, Lambert, PhD, Willemsen, Michel A., MD, PhD, de Brouwer, Arjan, PhD, Bodamer, Olaf A., MD, PhD, Wevers, Ron A., PhD, Lefeber, Dirk J., PhD
Published in The Journal of pediatrics (01.12.2011)
Published in The Journal of pediatrics (01.12.2011)
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Journal Article