Juvenile neuronal ceroid lipofuscinosis: Clinical course and genetic studies in Spanish patients

Journal of Inherited Metabolic Disease

Volumn 34, Issue 5, 2011, Pages 1083-1093

  Pérez Poyato, María Socorro ^a   Milà Recansens, Montserrat ^b   Ferrer Abizanda, Isidre ^c   Montero Sánchez, Raquel ^a   Rodríguez Revenga, Laia ^b   Cusí Sánchez, Victoria ^d   García González, M Mar ^e   Domingo Jiménez, Rosario ^f   Camino León, Rafael ^g   Velázquez Fragua, Ramón ^h   Martínez Bermejo, Antonio ^h   Pineda Marfà, Mercè ^a  

^a INSTITUTO DE SALUD CARLOS III   (Spain)

^b UNIVERSITY OF BARCELONA   (Spain)

^c HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

^d HOSPITAL SANT JOAN DE DÉU   (Spain)

^e HOSPITAL DE FIGUERES   (Spain)

^f HOSPITAL UNIVERSITARIO VIRGEN DE LA ARRIXACA   (Spain)

^g HOSPITAL UNIVERSITARIO REINA SOFÍA   (Spain)

^h HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

PALMITOYL PROTEIN THIOESTERASE;

ACQUIRED SKILL REGRESSION; ADULT; ARTICLE; BLINDNESS; CELL INCLUSION; CHILD; CLINICAL ARTICLE; CLN1 GENE; CLN3 GENE; CONTROLLED STUDY; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; DNA FINGERPRINTING; ENZYME ACTIVITY; ETHNIC GROUP; FEMALE; GENE; GENE DELETION; GENE INSERTION; GENOTYPE PHENOTYPE CORRELATION; GRANULAR OSMIOPHILIC DEPOSIT CELL INCLUSION; HUMAN; LEARNING DISORDER; MALE; MENTAL DEFICIENCY; MISSENSE MUTATION; MOLECULAR GENETICS; MYOCLONUS SEIZURE; NEURONAL CEROID LIPOFUSCINOSIS; NONSENSE MUTATION; ONSET AGE; PSYCHOMOTOR DISORDER; SCHOOL CHILD; SPANISH; SYMPTOMATOLOGY; TONIC CLONIC SEIZURE; VARIANT FORM NEURONAL CEROID LIPOFUSCINOSIS; VISUAL DISORDER;

ADOLESCENT; ADULT; CHILD; COGNITION; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; FEMALE; GENETICS, POPULATION; HUMANS; MALE; MENTAL DISORDERS; MOLECULAR DIAGNOSTIC TECHNIQUES; NEURONAL CEROID-LIPOFUSCINOSES; PHENOTYPE; SPAIN; YOUNG ADULT;

EID: 82955235538     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-011-9323-7     Document Type: Article

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