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

Journal of Inherited Metabolic Disease

Volumn 40, Issue 5, 2017, Pages 709-713

  de Diego, Víctor ^a,b   Martínez Monseny, Antonio F ^a   Muchart, Jordi ^a,b   Cuadras, Daniel ^c   Montero, Raquel ^a,b   Artuch, Rafael ^a,b   Pérez Cerdá, Celia ^b   Pérez, Belén ^b   Pérez Dueñas, Belén ^a,b   Poretti, Andrea ^d   Serrano, Mercedes ^a,b   Aguilera Albesa, Sergio ^e   Candela, Ramón Cancho ^e   Marina, Ma Llanos Carrasco ^e   Carratalá, Francisco ^e   Couce, Ma Luz ^e   Felipe, Ana ^e   García, Óscar ^e   García Silva, Ma Teresa ^e   Gutiérrez Solana, Luis G ^e   Macaya, Alfons ^e   Miranda, Ma Concepción ^e   López, Laura ^e   López Laso, Eduardo ^e   Póo, M Pilar ^e   Quijada Fraile, Pilar ^e   Robles, Bernabé ^e   Sierra Córcoles, Concepción ^e   Velázquez Fragua, Ramón ^e   more..

^a HOSPITAL SANT JOAN DE DÉU   (Spain)

^b INSTITUTO DE SALUD CARLOS III   (Spain)

^c Quintiles   (Spain)

^d JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e The Johns Hopkins University School of Medicine ^*

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHOMANNOMUTASE; MUTASE;

ARTICLE; BRAIN SIZE; CEREBELLUM ATROPHY; CEREBELLUM VERMIS; CHILD; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE COURSE; ENZYME DEFICIENCY; FEMALE; FOLLOW UP; GENOTYPE; HUMAN; LONGITUDINAL STUDY; MALE; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PHOSPHOMANNOMUTASE DEFICIENCY; SCHOOL CHILD; VOLUMETRY; ATROPHY; CEREBELLUM; DEFICIENCY; DISEASE EXACERBATION; METABOLISM; PATHOLOGY; PROCEDURES;

ATROPHY; CEREBELLUM; CHILD; COHORT STUDIES; DISEASE PROGRESSION; FEMALE; HUMANS; LONGITUDINAL STUDIES; MAGNETIC RESONANCE IMAGING; MALE; PHOSPHOTRANSFERASES (PHOSPHOMUTASES);

EID: 85016178366     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-017-0028-4     Document Type: Article

References (11)

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