Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)

Objective We aim to delineate the progression of cerebellar atrophy (the primary neuroimaging finding) in children with phosphomannomutase-deficiency (PMM2-CDG) by analyzing longitudinal MRI studies and performing cerebellar volumetric analysis and a 2D cerebellar measurement. Methods Statistical an...

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Veröffentlicht in:	Journal of inherited metabolic disease 2017-09, Vol.40 (5), p.709-713
Hauptverfasser:	de Diego, Víctor, Martínez-Monseny, Antonio F., Muchart, Jordi, Cuadras, Daniel, Montero, Raquel, Artuch, Rafael, Pérez-Cerdá, Celia, Pérez, Belén, Pérez-Dueñas, Belén, Poretti, Andrea, Serrano, Mercedes
Format:	Artikel
Sprache:	eng
Schlagworte:	Atrophy Atrophy - metabolism Atrophy - pathology Biochemistry Cerebellum Cerebellum - metabolism Cerebellum - pathology Child Children Cohort Studies Disease Progression Female Human Genetics Humans Internal Medicine Longitudinal Studies Magnetic resonance imaging Magnetic Resonance Imaging - methods Male Medicine Medicine & Public Health Metabolic Diseases Neuroimaging Original Article Pediatrics Phosphomannomutase Phosphotransferases (Phosphomutases) - deficiency Phosphotransferases (Phosphomutases) - metabolism Statistical analysis Studies Volumetric analysis
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