Search Results - "Thys, Liene"

Novel presentation of AADC deficiency as a mild phenotype with exercise-induced dystonic crises: A case report by Thys, Liene, Meuwissen, Marije, Janssens, Katrien, Beysen, Diane

“…Aromatic l-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive neurometabolic disorder caused by biallelic pathogenic variants in the DDC…”
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Confirmation of gray matter heterotopia as part of the DDX23 phenotypic spectrum by Thys, Liene, Beysen, Diane, Jansen, Anna, Janssens, Katrien, Meuwissen, Marije

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The Genetic Puzzle of Cerebral Palsy: Results of a Monocentric Study by Thys, Liene, Beysen, Diane, Ceulemans, Berten, Kenis, Sandra, Dielman, Charlotte, Roelens, Filip, Reyniers, Edwin, Mateiu, Ligia, Janssens, Katrien, Meuwissen, Marije

“…Cerebral palsy (CP) is the most frequent cause of motor impairment in children. Although perinatal asphyxia was long considered to be the leading cause of CP,…”
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Novel presentation of AADC deficiency as a mild phenotype with exercise-induced dystonic crises: A case report by Thys, Liene, Meuwissen, Marije, Janssens, Katrien, Beysen, Diane

“…Aromatic l-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive neurometabolic disorder caused by biallelic pathogenic variants in the DDC…”
Get full text