A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)

Orphanet Journal of Rare Diseases

Volumn 12, Issue 1, 2017, Pages

  Serrano, Natalia Lourdes ^a,b,c   De Diego, Victor ^a,b   Cuadras, Daniel ^d   Martinez Monseny, Antonio F ^a   Velázquez Fragua, Ramón ^e   López, Laura ^f   Felipe, Ana ^g   Gutiérrez Solana, Luis G ^f   Macaya, Alfons ^g   Pérez Dueñas, Belén ^a,b   Serrano, Mercedes ^a,b,h   Miranda, Ma Concepción ⁱ   Carratala, Francisco ⁱ   Póo, M Pilar ⁱ   Robles, Bernabé ⁱ   Couce, María L ⁱ   Girós, Marisa ⁱ   Gort, Laura ⁱ   Montero, Raquel ⁱ   Artuch, Rafael ⁱ   Pérez Cerdá, Celia ⁱ   Muchart, Jordi ⁱ   Pérez, Belén ⁱ   more..

^a HOSPITAL SANT JOAN DE DÉU   (Spain)

^b INSTITUTO DE SALUD CARLOS III   (Spain)

^c HOSPITAL DE PEDIATRÍA PROF DR JUAN P GARRAHAN   (Argentina)

^d Quintiles   (Spain)

^e HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^f HOSPITAL INFANTIL UNIVERSITARIO NIÑO JESÚS   (Spain)

^g UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^h HOSPITAL SANT JOAN DE DÉU   (Spain)

ⁱ NONE

Author keywords

Cerebellum; Congenital disorders of glycosylation; Developmental disorders; Gait disorders ataxia; ICARS; MRI

Indexed keywords

PHOSPHOMANNOMUTASE; MUTASE;

ADOLESCENT; AGE; ARTICLE; BODY POSITION; BRAIN FUNCTION; BRAIN SIZE; CEREBELLAR ATAXIA; CEREBELLUM; CEREBELLUM ATROPHY; CHILD; CHILD HEALTH; CLINICAL ARTICLE; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE SEVERITY; ENZYME DEFICIENCY; FEMALE; GAIT; HUMAN; INTERNATIONAL COOPERATIVE ATAXIA RATING SCALE; MALE; MOTOR PERFORMANCE; NEUROLOGIC DISEASE ASSESSMENT; NUCLEAR MAGNETIC RESONANCE IMAGING; PHOSPHOMANNOMUTASE DEFICIENCY; PRESCHOOL CHILD; PROSPECTIVE STUDY; QUANTITATIVE ANALYSIS; SCHOOL CHILD; SPEECH DISORDER; CEREBELLUM DISEASE; DEFICIENCY; ENZYMOLOGY; GENETICS; NEUROIMAGING; PATHOLOGY;

ADOLESCENT; CEREBELLAR DISEASES; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; MALE; NEUROIMAGING; PHOSPHOTRANSFERASES (PHOSPHOMUTASES);

EID: 85029491411     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/s13023-017-0707-0     Document Type: Article

References (10)

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