Metachromatic leukodystrophy without arylsulfatase A deficiency: A new case of saposin-B deficiency

European Journal of Paediatric Neurology

Volumn 12, Issue 1, 2008, Pages 46-50

  Deconinck, Nicolas ^a   Messaaoui, Anissa ^a   Ziereisen, France ^a   Kadhim, Hazim ^b   Sznajer, Yves ^a   Pelc, Karine ^a   Cécile Nassogne, Marie ^c   Vanier, Marie T ^d   Dan, Bernard ^a  

^a HOP UNIV DES ENFANTS REINE FABIOLA   (Belgium)

^b BRUGMANN UNIVERSITY HOSPITAL   (Belgium)

^c CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^d CENTRE HOSPITALIER LYON SUD   (France)

Author keywords

Metachromatic leukodystrophy; Saposin B

Indexed keywords

ARYLSULFATASE;

ARTICLE; CASE REPORT; CLINICAL FEATURE; ELECTROMYOGRAPHY; ELECTRON MICROSCOPY; FEMALE; GAIT; GAIT DISORDER; HEAD CIRCUMFERENCE; HUMAN; ITALY; KINETICS; LABORATORY TEST; METACHROMATIC LEUKODYSTROPHY; MUSCLE BIOPSY; MUTATION; NERVE BIOPSY; NERVE FIBER; NEUROIMAGING; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; URINARY EXCRETION;

CEREBROSIDE-SULFATASE; CHILD, PRESCHOOL; FEMALE; FOLLOW-UP STUDIES; HUMANS; LEUKODYSTROPHY, METACHROMATIC; MICROSCOPY, ELECTRON, TRANSMISSION; PERIPHERAL NERVES; SAPOSINS;

EID: 37049023416     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2007.05.004     Document Type: Article

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