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

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	Year	Citations
A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humans Ronen Spiegel, Gideon Bach, Vivi Sury, Molecular Genetics and Metabolism GeneticsPathogenesisSaposin APathologyMolecular Genetics	2004	128
Sphingolipid activator protein 1 deficiency in metachromatic leucodystrophy with normal arylsulphatase A activity. A clinical, morphological, biochemical and immunological study W. Schlote, K. Harzer, H. Christomanou, European Journal of Pediatrics BiochemistryPathologyNormal ArylsulphataseSclerodermaMedicine	1991	65
A non‐glycosylated and functionally deficient mutant (N215H) of the sphingolipid activator protein B (SAP‐B) in a novel case of metachromatic leukodystrophy (MLD) D. Wrobe, Margarete Henseler, S. Huettler, Journal of Inherited Metabolic Disease	2000	40
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 activity Stefano Regis, Mirella Filocamo, Fabio Corsolini, European Journal of Human Genetics Lys SubstitutionCellular EnzymologyBiochemistrySaposin BGlycobiology	1999	34
Bone marrow transplantation in metachromatic leukodystrophy caused by saposin-B deficiency: A case report with a 3-year follow-up period P. Landrieu, Stéphane Blanche, Marie‐Thérèse Vanier, The Journal of Pediatrics TransplantationBone Marrow FailureSaposin-b DeficiencyHematologyPathology	1998	23

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