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Evaluation of different suspicion indices in identifying patients with Niemann-Pick disease Type C in clinical practice: a post hoc analysis of a retrospective chart review by Mercedes Pineda, Katarína Juríčková, Parvaneh Karimzadeh, Miriam Kolniková, Věra Malinová, Juan Torres, Stefan A. Kolb
Published 2019-07-01
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Disease characteristics, prognosis and miglustat treatment effects on disease progression in patients with Niemann-Pick disease Type C: an international, multicenter, retrospective... by Mercedes Pineda, Katarína Juríčková, Parvaneh Karimzadeh, Miriam Kolnikova, Vera Malinova, Jose Luis Insua, Christian Velten, Stefan A. Kolb
Published 2019-02-01
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ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability by Martina Skopkova, Hana Stufkova, Vibhuti Rambani, Viktor Stranecky, Katarina Brennerova, Miriam Kolnikova, Michaela Pietrzykova, Miloslav Karhanek, Lenka Noskova, Marketa Tesarova, Hana Hansikova, Daniela Gasperikova
Published 2023-04-01
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