The neurological presentation of ceruloplasmin gene mutations

European Neurology

Volumn 60, Issue 4, 2008, Pages 200-205

  McNeill, Alisdair ^a,f   Pandolfo, Massimo ^b   Kuhn, Jens ^e   Shang, Huifang ^c   Miyajima, Hiroaki ^d  

^a BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^b UNIVERSITÉ LIBRE DE BRUXELLES   (Belgium)

^c SICHUAN UNIVERSITY   (China)

^d HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^e LVR Klinik Köln Fachklinik für Psychiatrie und Psychotherapie   (Germany)

^f NONE   (United Kingdom)

Author keywords

Aceruloplasminemia; Ataxia; Autosomal recessive; Ceruloplasmin; Dementia; Retinal degeneration

Indexed keywords

CERULOPLASMIN; DEFERASIROX; DEFEROXAMINE; FRESH FROZEN PLASMA; IRON CHELATING AGENT; ZINC SULFATE;

ACERULOPLASMINEMIA; ADOLESCENT; ADULT; AGED; ATAXIA; AUTOSOMAL RECESSIVE DISORDER; BLEPHAROSPASM; CEREBELLAR ATAXIA; CEREBELLUM DISEASE; CHOREA; CHOREOATHETOSIS; CLINICAL FEATURE; COGNITIVE DEFECT; DYSKINESIA; FEMALE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HOMOZYGOTE; HUMAN; MALE; MEDICAL LITERATURE; MUSCLE RIGIDITY; NEUROLOGIC DISEASE; PRIORITY JOURNAL; RETINA DEGENERATION; REVIEW; TREATMENT OUTCOME; TREMOR;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; CERULOPLASMIN; FEMALE; HUMANS; IRON METABOLISM DISORDERS; MALE; METAL METABOLISM, INBORN ERRORS; MIDDLE AGED; MUTATION; NERVOUS SYSTEM DISEASES;

EID: 48049107099     PISSN: 00143022     EISSN: None     Source Type: Journal    
DOI: 10.1159/000148691     Document Type: Review

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