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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Absent CNKSR2 causes seizures and intellectual, attention, and language deficits
Vaags, Andrea K., Bowdin, Sarah, Smith, Mary-Lou, Gilbert-Dussardier, Brigitte, Brocke-Holmefjord, Katja S., Sinopoli, Katia, Gilles, Cindy, Haaland, Tove B., Vincent-Delorme, Catherine, Lagrue, Emmanuelle, Harbuz, Radu, Walker, Susan, Marshall, Christian R., Houge, Gunnar, Kalscheuer, Vera M., Scherer, Stephen W., Minassian, Berge A.
Published in Annals of neurology (01.11.2014)
Published in Annals of neurology (01.11.2014)
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Oral D-galactose supplementation in PGM1-CDG
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Published in Genetics in medicine (01.11.2017)
Published in Genetics in medicine (01.11.2017)
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Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots
Conte, Federica, Morava, Eva, Bakar, Nurulamin Abu, Wortmann, Saskia B., Poerink, Anne Jonge, Grunewald, Stephanie, Crushell, Ellen, Al-Gazali, Lihadh, de Vries, Maaike C., Mørkrid, Lars, Hertecant, Jozef, Brocke Holmefjord, Katja S., Kronn, David, Feigenbaum, Annette, Fingerhut, Ralph, Wong, Sunnie Y., van Scherpenzeel, Monique, Voermans, Nicol C., Lefeber, Dirk J.
Published in Molecular genetics and metabolism (01.09.2020)
Published in Molecular genetics and metabolism (01.09.2020)
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Absent CNKSR 2 causes seizures and intellectual, attention, and language deficits
Vaags, Andrea K., Bowdin, Sarah, Smith, Mary‐Lou, Gilbert‐Dussardier, Brigitte, Brocke‐Holmefjord, Katja S., Sinopoli, Katia, Gilles, Cindy, Haaland, Tove B., Vincent‐Delorme, Catherine, Lagrue, Emmanuelle, Harbuz, Radu, Walker, Susan, Marshall, Christian R., Houge, Gunnar, Kalscheuer, Vera M., Scherer, Stephen W., Minassian, Berge A.
Published in Annals of neurology (01.11.2014)
Published in Annals of neurology (01.11.2014)
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