Multiple phenotypes in phosphoglucomutase 1 deficiency.

@article{Tegtmeyer2014MultiplePI,
  title={Multiple phenotypes in phosphoglucomutase 1 deficiency.},
  author={Laura C Tegtmeyer and Stephan Rust and Monique van Scherpenzeel and Bobby G Ng and Marie-Estelle Losfeld and Sharita Timal and Kimiyo M Raymond and Ping He and Mie Ichikawa and Joris A. Veltman and Karin M. L. C. Huijben and Yoon Sup Shin and Vandana Sharma and Maciej Adamowicz and Martin Lammens and Janine Reunert and Anika Witten and Esther Schrapers and Gert Matthijs and Jaak Jaeken and Daisy Rymen and Tanya Stojkovic and Pascal Lafor{\^e}t and François Petit and Olivier Auma{\^i}tre and Elżbieta Czarnowska and Monique Piraud and Teodor Podskarbi and Charles A. Stanley and Reuben Matalon and Patricie Burda and Soraya Seyyedi and Volker Debus and Piotr Socha and Jolanta Sykut-Cegielska and Francjan J van Spronsen and Linda J De Meirleir and Pietro Vajro and Terry J DeClue and Can Ficicioglu and Yoshinao Wada and Ron A Wevers and Dieter Vanderschaeghe and Nico 3 Callewaert and Ralph Fingerhut and Emile van Schaftingen and Hudson H. Freeze and Eva Morava and Dirk J. Lefeber and Thorsten Marquardt},
  journal={The New England journal of medicine},
  year={2014},
  volume={370 6},
  pages={533-42}
}
BACKGROUND Congenital disorders of glycosylation are genetic syndromes that result in impaired glycoprotein production. We evaluated patients who had a novel recessive disorder of glycosylation, with a range of clinical manifestations that included hepatopathy, bifid uvula, malignant hyperthermia, hypogonadotropic hypogonadism, growth retardation, hypoglycemia, myopathy, dilated cardiomyopathy, and cardiac arrest. METHODS Homozygosity mapping followed by whole-exome sequencing was used to… CONTINUE READING

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