An unusual homozygous arylsulfatase: A pseudodeficiency in a metachromatic leukodystrophy tunisian patient

Journal of Child Neurology

Volumn 25, Issue 1, 2010, Pages 82-86

  Tinsa, Faten ^a   Caillaud, Catherine ^b   Vanier, Marie Thérèse ^c,d   Bousnina, Dorra ^a   Boussetta, Khadija ^a   Bousnina, Souad ^a  

^a CHILDREN S HOSPITAL   (Tunisia)

^b ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^c INSERM   (France)

^d HOSPICES CIVILS DE LYON   (France)

Author keywords

Arylsulfatase A; Metachromatic leukodystrophy; Pseudodeficiency

Indexed keywords

ARYLSULFATASE;

ARTICLE; ARYLSULFATASE A PSEUDODEFICIENCY; CASE REPORT; CHILD; CLINICAL FEATURE; DISEASE SEVERITY; ENZYME DEFICIENCY; GENE MUTATION; HOMOZYGOSITY; HUMAN; MALE; METACHROMATIC LEUKODYSTROPHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; TUNISIA;

BRAIN; CEREBROSIDE-SULFATASE; CHILD, PRESCHOOL; FATAL OUTCOME; HOMOZYGOTE; HUMANS; LEUKODYSTROPHY, METACHROMATIC; MAGNETIC RESONANCE IMAGING; MALE; PRENATAL DIAGNOSIS; TUNISIA;

EID: 75649115349     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073809334382     Document Type: Article

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