Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specific HAX1 mutations.

Carlsson, G; van't Hooft, I; Melin, M; Entesarian, M; Laurencikas, E; Nennesmo, I; Trebinska, A; Grzybowska, E; Palmblad, J; Dahl, N; Nordenskjöld, M; Fadeel, B; Henter, J-I

Carlsson, G; van't Hooft, I; Melin, M; Entesarian, M; Laurencikas, E; Nennesmo, I; Trebinska, A; Grzybowska, E; Palmblad, J; Dahl, N; Nordenskjöld, M; Fadeel, B; Henter, J-I.

Affiliation

Carlsson G; Childhood Cancer Research Unit, Department of Woman and Child Health, Karolinska Institutet, Stockholm, Sweden. goran.carlsson@ki.se

J Intern Med ; 264(4): 388-400, 2008 Oct.

Article in En | MEDLINE | ID: mdl-18513342

Subject(s)

Central Nervous System Diseases/diagnosis; Neutropenia/congenital; Proteins/genetics; Adaptor Proteins, Signal Transducing; Adolescent; Adult; Central Nervous System Diseases/genetics; Central Nervous System Diseases/immunology; DNA Mutational Analysis; Female; Homozygote; Humans; Magnetic Resonance Imaging; Male; Neuropsychological Tests; Neutropenia/genetics; Pedigree; Point Mutation; Protein Isoforms; Reverse Transcriptase Polymerase Chain Reaction; Sweden

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Proteins / Central Nervous System Diseases / Neutropenia Type of study: Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Female / Humans / Male Country/Region as subject: Europa Language: En Journal: J Intern Med Journal subject: MEDICINA INTERNA Year: 2008 Document type: Article Affiliation country: Sweden Country of publication: United kingdom

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