Severe hypomyelination as the leading neuroradiological sign in a patient with fucosidosis

Neuropediatrics

Volumn 39, Issue 1, 2008, Pages 51-54

  Prietsch, V ^a   Arnold, S ^a   Kraegeloh Mann, I ^b   Kuehr, J ^a   Santer, R ^c  

^a STÄDTISCHES KLINIKUM KARLSRUHE   (Germany)

^b UNIVERSITY OF TÜBINGEN   (Germany)

^c UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

Alpha l fucosidase; FUCA1 gene; Fucosidosis; Hypomyelination

Indexed keywords

ARTICLE; CASE REPORT; DEMYELINATION; FEMALE; FUCA1 GENE; FUCOSIDOSIS; GENE; HETEROZYGOSITY; HUMAN; MISSENSE MUTATION; MOLECULAR GENETICS; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; WHITE MATTER;

ALPHA-L-FUCOSIDASE; AMINO ACID SEQUENCE; CHILD; CHILD, PRESCHOOL; DEMYELINATING DISEASES; FEMALE; FOLLOW-UP STUDIES; FUCOSIDOSIS; HETEROZYGOTE; HUMANS; INFANT; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PHENOTYPE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PSYCHOMOTOR DISORDERS; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 45149096272     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2008-1077048     Document Type: Article

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