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Items: 3

1.

Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability.

Willems AP, Gundogdu M, Kempers MJE, Giltay JC, Pfundt R, Elferink M, Loza BF, Fuijkschot J, Ferenbach AT, van Gassen KLI, van Aalten DMF, Lefeber DJ.

J Biol Chem. 2017 Jul 28;292(30):12621-12631. doi: 10.1074/jbc.M117.790097. Epub 2017 Jun 5.

2.

Irreversible Respiratory Failure in a Full-Term Infant with Features of Pulmonary Interstitial Glycogenosis as Well as Bronchopulmonary Dysplasia.

Jiskoot-Ermers ME, Antonius TA, Looijen-Salamon MG, Wijnen MH, Loza BF, Heijst AF.

AJP Rep. 2015 Oct;5(2):e136-40. doi: 10.1055/s-0035-1551674. Epub 2015 Jun 3.

3.

The effect of 3% and 6% hypertonic saline in viral bronchiolitis: a randomised controlled trial.

Teunissen J, Hochs AH, Vaessen-Verberne A, Boehmer AL, Smeets CC, Brackel H, van Gent R, Wesseling J, Logtens-Stevens D, de Moor R, Rosias PP, Potgieter S, Faber MR, Hendriks HJ, Janssen-Heijnen ML, Loza BF.

Eur Respir J. 2014 Oct;44(4):913-21. doi: 10.1183/09031936.00159613. Epub 2014 Jun 25.

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