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

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 et al. · Molecular Genetics and Metabolism · 2004 · 128 citations

Genetics, Pathogenesis, Saposin A +5

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 et al. · European Journal of Pediatrics · 1991 · 65 citations

Biochemistry, Pathology, Normal Arylsulphatase +6

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 et al. · Journal of Inherited Metabolic Disease · 2000 · 40 citations

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 et al. · European Journal of Human Genetics · 1999 · 34 citations · Full text

Lys Substitution, Cellular Enzymology, Biochemistry +6

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 et al. · The Journal of Pediatrics · 1998 · 23 citations

Transplantation, Bone Marrow Failure, Saposin-b Deficiency +4