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Author/Creator Pitelet, Gaele

1. Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium. (January 2022)

Authors:
Ditters, Imke Anne Maartje; Huidekoper, Hidde Harmen; Kruijshaar, Michelle Elisabeth; Rizopoulos, Dimitris; Hahn, Andreas; Mongini, Tiziana Enrica; Labarthe, François; Tardieu, Marine; Chabrol, Brigitte; Brassier, Anais; Parini, Rossella; Parenti, Giancarlo; van der Beek, Nadine Anna Maria Elisab...
Journal:
Lancet
Issue:
Volume 6:Number 1(2022)
Page Start:
28
Record Type:
Journal Article
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2. Thirteen New Patients with Guanidinoacetate Methyltransferase Deficiency and Functional Characterization of Nineteen Novel Missense Variants in the GAMT Gene. Issue 4 (6th March 2014)

Authors:
Mercimek‐Mahmutoglu, Saadet; Ndika, Joseph; Kanhai, Warsha; de, Thierry Billette; Cheillan, David; Christensen, Ernst; Dorison, Nathalie; Hannig, Vickie; Hendriks, Yvonne; Hofstede, Floris C.; Lion‐Francois, Laurence; Lund, Allan M.; Mundy, Helen; Pitelet, Gaele; Raspall‐Chaure, Miquel; Scott‐Sch...
Journal:
Human mutation
Issue:
Volume 35:Issue 4(2014:Apr.)
Page Start:
462
Record Type:
Journal Article
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3. Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study. (May 2018)

Authors:
Khaikin, Yannay; Sidky, Sarah; Abdenur, Jose; Anastasi, Arnaud; Ballhausen, Diana; Buoni, Sabrina; Chan, Alicia; Cheillan, David; Dorison, Nathalie; Goldenberg, Alice; Goldstein, Jennifer; Hofstede, Floris C.; Jacquemont, Marie-Line; Koeberl, Dwight D.; Lion-Francois, Laurence; Lund, Allan Meldga...
Journal:
European journal of paediatric neurology
Issue:
Volume 22:Number 3(2018:May)
Page Start:
369
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗