Optico-cochleo-dentate degeneration associated with severe peripheral neuropathy and caused by peroxisomal D-bifunctional protein deficiency

Acta Neuropathologica

Volumn 108, Issue 2, 2004, Pages 154-167

  Schroder J M ^a   Hackel, V ^a,d   Wanders, R J A ^b   Gohlich Ratmann G ^c   Voit, T ^c  

^a UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

^c UNIVERSITY HOSPITAL ESSEN   (Germany)

^d MARTIN LUTHER UNIVERSITÄT HALLE WITTENBERG   (Germany)

Author keywords

Cerebellum; D bifunctional protein deficiency; Optico cochleo dentate degeneration; Peroxisomal disease; Sural nerve

Indexed keywords

CYTOPLASM PROTEIN; D BIFUNCTIONAL PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; BRAIN DEGENERATION; CASE REPORT; CELL INCLUSION; CELL STRUCTURE; CEREBELLUM ATROPHY; COCHLEAR NERVE; DENTATE NUCLEUS; DISEASE ASSOCIATION; DISEASE SEVERITY; DISORDERS OF PEROXISOMAL FUNCTIONS; FIBROBLAST CULTURE; GENERALIZED EPILEPSY; HUMAN; HYPOACUSIS; INFANTILE HYPOTONIA; MALE; MENTAL DEFICIENCY; MICROGYRIA; NERVE DEGENERATION; NEUROPATHOLOGY; NEURORADIOLOGY; NYSTAGMUS; OPTIC NERVE; PERIPHERAL NEUROPATHY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PUPIL DISEASE; SURAL NERVE;

3-HYDROXYACYL COA DEHYDROGENASES; ANTIGENS, CD; ANTIGENS, DIFFERENTIATION, MYELOMONOCYTIC; CASE-CONTROL STUDIES; CEREBELLAR DISEASES; CEREBELLAR NUCLEI; CHILD, PRESCHOOL; COCHLEAR NERVE; ENOYL-COA HYDRATASE; HUMANS; IMMUNOHISTOCHEMISTRY; ISOMERASES; MALE; MICROSCOPY, ELECTRON; MULTIENZYME COMPLEXES; OPTIC NERVE; PERIPHERAL NERVOUS SYSTEM DISEASES; PEROXISOMAL DISORDERS; PEROXISOMES; POSTMORTEM CHANGES; SURAL NERVE; VESTIBULOCOCHLEAR NERVE DISEASES;

EID: 4344690862     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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