Metachromatic leukodystrophy without arylsulfatase A deficiency: a new case of saposin-B deficiency.
par Deconinck, Nicolas 
;Messaaoui, Anissa ;Ziereisen, France ;Kadhim, H;Sznajer, Yves ;Pelc, Karine ;Nassogne, Marie-Cécile;Vanier, Marie T;Dan, Bernard
Référence European journal of paediatric neurology, 12, 1, page (46-50)
Publication Publié, 2008-01
;Messaaoui, Anissa ;Ziereisen, France ;Kadhim, H;Sznajer, Yves ;Pelc, Karine ;Nassogne, Marie-Cécile;Vanier, Marie T;Dan, Bernard Référence European journal of paediatric neurology, 12, 1, page (46-50)
Publication Publié, 2008-01
Article révisé par les pairs
| Titre: |
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| Auteur: | Deconinck, Nicolas; Messaaoui, Anissa; Ziereisen, France; Kadhim, H; Sznajer, Yves; Pelc, Karine; Nassogne, Marie-Cécile; Vanier, Marie T; Dan, Bernard |
| Informations sur la publication: | European journal of paediatric neurology, 12, 1, page (46-50) |
| Statut de publication: | Publié, 2008-01 |
| Sujet CREF: | Sciences bio-médicales et agricoles |
| Psychologie | |
| MeSH keywords: | Cerebroside-Sulfatase -- metabolism |
| Child, Preschool | |
| Female | |
| Follow-Up Studies | |
| Humans | |
| Leukodystrophy, Metachromatic -- enzymology | |
| Leukodystrophy, Metachromatic -- metabolism | |
| Leukodystrophy, Metachromatic -- pathology | |
| Microscopy, Electron, Transmission | |
| Peripheral Nerves -- pathology | |
| Peripheral Nerves -- ultrastructure | |
| Saposins -- deficiency | |
| Note générale: | Case Reports |
| Journal Article | |
| SCOPUS: ar.j | |
| Langue: | Anglais |
| Identificateurs: | urn:issn:1090-3798 |
| info:doi/10.1016/j.ejpn.2007.05.004 | |
| info:pii/S1090-3798(07)00098-0 | |
| info:scp/37049023416 | |
| info:pmid/17616409 |
