Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots

Autor: 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, Katja Sara, Kronn, David, Feigenbaum, Annette, Fingerhut, Ralph, Wong, Sunnie Yan-Wai, Van Scherpenzeel, Monique, Voermans, Nicol C., Lefeber, Dirk J.

Publikováno v: 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, Katja Sara Kronn, David Feigenbaum, Annette Fingerhut, Ralph Wong, Sunnie Yan-Wai Van Scherpenzeel, Monique Voermans, Nicol C. Lefeber, Dirk J. . Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots. Molecular Genetics and Metabolism. 2020, 131(1-2), 135-146
Molecular Genetics and Metabolism

Externí odkaz: http://hdl.handle.net/10852/82795
https://www.duo.uio.no/bitstream/handle/10852/82795/1/Postnr%2B1847366_Conte%2Bet%2Bal_Mol%2BGen%2BMetab_1-s2.0-S1096719220301852-main.pdf

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The human intronless melanocortin4-receptor gene is NMD insensitive.

Autor: Brocke, Katja S., Neu-Yilik, Gabriele, Gehring, NielsH., Hentze, MatthiasW., Kulozik, Andreas E.

Publikováno v: Human Molecular Genetics; Feb2002, Vol. 11 Issue 3, p331-335, 5p

The human intronless melanocortin 4-receptor gene is NMD insensitive.

Autor: Brocke KS; Department of Pediatric Oncology, Hematology and Immunology, University of Heidelberg, Im Neuenheimer Feld 150, D-69120 Heidelberg, Germany., Neu-Yilik G, Gehring NH, Hentze MW, Kulozik AE

Publikováno v: Human molecular genetics [Hum Mol Genet] 2002 Feb 01; Vol. 11 (3), pp. 331-5.