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Neuropediatrics 2018; 49(S 01): S1-S12
DOI: 10.1055/s-0038-1651850
Oral Communications
Georg Thieme Verlag KG Stuttgart · New York

Long-Term Follow-Up in Two Families with Adenylosuccinate Lyase Deficiency and Genotype: Phenotype Correlations through a Revision of Literature

S. Masnada
1   Department of Brain and Behavior, University of Pavia, Pavia, Italy
,
G. Lesca
3   Department of Genetics, University Hospitals of Lyon, University Lyon1, Lyon, France
,
M. Valente
4   Genomic and post-Genomic Center, National Neurological Institute “C. Mondino,” IRCCS, Pavia, Italy
,
G. Papalia
2   Department of Child and Adolescence Neurology, IRCCS C. Mondino National Neurological Institute, Pavia, Italy
,
A. Pichiecchio
6   Department of Neuroradiology, IRCCS C.Mondino National Neurological Institute, Pavia, Italy
,
V. De Giorgis
1   Department of Brain and Behavior, University of Pavia, Pavia, Italy
,
D. Tonduti
7   Child Neurology Department, Children Ospital V. Buzzi, Milan, Italy
,
D. Ville
8   Department of Pediatric Neurology, University Hospital of Lyon, Lyon, France
,
I. Bousquet
3   Department of Genetics, University Hospitals of Lyon, University Lyon1, Lyon, France
,
L. Pasca
2   Department of Child and Adolescence Neurology, IRCCS C. Mondino National Neurological Institute, Pavia, Italy
,
C. Varesio
2   Department of Child and Adolescence Neurology, IRCCS C. Mondino National Neurological Institute, Pavia, Italy
,
C. Cereda
4   Genomic and post-Genomic Center, National Neurological Institute “C. Mondino,” IRCCS, Pavia, Italy
,
P. Veggiotti
7   Child Neurology Department, Children Ospital V. Buzzi, Milan, Italy
› Author Affiliations