Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity

Marisa Mendes (1) , Desirée Ec Smith (1) , Ana Pop (1) , Pascal Lennertz (1) , Matilde Fernandez Ojeda (1) , Warsha Kanhai (1) , Silvy Jm van Dooren (1) , Yair Anikster (2, 3) , Ivo Barić (4) , Caroline Boelen , Jaime Campistol (5) , Lonneke de Boer (6) , Ariana Kariminejad (7) , Hulya Kayserili (8) , Agathe Roubertie (9, 10) , Krijn Verbruggen (11) , Christine Vianey-Saban (12, 13) , Monique Williams (1) , Gajja Salomons (14)

1 VU University Medical Center [Amsterdam]
2 Sheba Medical Center
3 Sackler Faculty of Medicine
4 Department of Pediatrics
5 Hospital Sant Joan de Déu [Barcelona]
6 Radboud University Medical Center [Nijmegen]
7 Kariminejad-Najmabadi Pathology& Genetics Center
8 Department of Medical Genetics
9 Service de Neuropédiatrie
10 INM - Institut des Neurosciences de Montpellier
11 UMCG - University Medical Center Groningen [Groningen]
12 CarMeN - Cardiovasculaire, métabolisme, diabétologie et nutrition
13 Maladies Héréditaires du Métabolisme
14 Metabolic Unit

Domaines: Sciences du Vivant [q-bio]

Marisa Mendes, Desirée Ec Smith, Ana Pop, Pascal Lennertz, Matilde Fernandez Ojeda, et al.. Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity. Human Mutation, 2017, 38 (5), pp.524 - 531. ⟨10.1002/humu.23181⟩. ⟨hal-01829657⟩