Metachromatic leukodystrophy without arylsulfatase A deficiency: A new case of saposin-B deficiency
- 31 January 2008
- journal article
- case report
- Published by Elsevier BV in European Journal of Paediatric Neurology
- Vol. 12 (1), 46-50
- https://doi.org/10.1016/j.ejpn.2007.05.004
Abstract
No abstract availableThis publication has 5 references indexed in Scilit:
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- A non-glycosylated and functionally deficient mutant (N215H) of the sphingolipid activator protein B (SAP-B) in a novel case of metachromatic leukodystrophy (MLD)Journal of Inherited Metabolic Disease, 2000
- An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activityEuropean Journal of Human Genetics, 1999
- Bone marrow transplantation in metachromatic leukodystrophy caused by saposin-B deficiency: A case report with a 3-year follow-up periodThe Journal of Pediatrics, 1998
- Sphingolipid activator protein 1 deficiency in metachromatic leucodystrophy with normal arylsulphatase A activity. A clinical, morphological, biochemical and immunological studyEuropean Journal of Pediatrics, 1991