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Genetics in Medicine Open
(Jan 2023)
P199: Novel homozygous GLDC variants causing late-onset glycine encephalopathy: A case report and updated review of the literature
Minh-Tuan Huynh,
Emilie Landais,
Jean-Madeleine De Sainte Agathe,
Anne Panchout,
Henri Bruel
Affiliations
Minh-Tuan Huynh
Le Havre Hospital Center
Emilie Landais
Laboratoire de Génétique, CHRU de Reims, Reims, France
Jean-Madeleine De Sainte Agathe
Laboratoire de Génétique Moléculaire, APHP, Hôpital Pitié-Salpêtrière, Paris, France
Anne Panchout
Centre Hospitalier du Havre, Service de Gynécologie, Montivil
Henri Bruel
Centre Hospitalier du Havre, Service de Néonatologie, Montivil
Journal volume & issue
Vol. 1, no. 1
p. 100228
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