. "American Journal of Medical Genetics - Part A" . . . "149A" . "Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations" . . "Ledvinov\u00E1, Jana" . "Chrastina, Petr" . . . . "Mayrhofer, Heidi" . "000264982900010" . . "4" . "[C0946BB19C64]" . . "9"^^ . "1552-4825" . "US - Spojen\u00E9 st\u00E1ty americk\u00E9" . "Staudt, Martin" . "Dvo\u0159\u00E1kov\u00E1, Lenka" . . "sphingolipid activator proteins; prosaposin; urinary lipids; mass spectrometry; PSAP gene; saposin deficiency; metachromatic leukodystrophy"@en . . . "P(GD303/03/H065), Z(MSM0021620806), Z(MZ0VFN2005)" . "Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations" . "H\u0159eb\u00ED\u010Dek, Martin" . . . "8"^^ . "RIV/00216208:11110/09:3101" . . "15"^^ . . . . . "Befekadu, Asfaw" . "Elleder, Milan" . "337213" . . "11110" . . "Harzer, Klaus" . "Peterm\u00F6ller, Margret" . "Kucha\u0159, Ladislav" . . . "Bern\u00E1, Linda" . . . "Kr\u00E4geloh-Mann, Ingeborg" . . . "Two patients, one with pSap-d and the other with SapB-d having novel PSAP mutation(s) were detected by urinary glycosphingolipid analysis. Tandem mass spectrometry proved to be an efficient screening method showing elevation in multiple sphingolipids." . "Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations"@en . "My\u0161kov\u00E1, Helena" . "RIV/00216208:11110/09:3101!RIV10-MZ0-11110___" . "Paton, Barbara C." . . . "Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations"@en . "Two patients, one with pSap-d and the other with SapB-d having novel PSAP mutation(s) were detected by urinary glycosphingolipid analysis. Tandem mass spectrometry proved to be an efficient screening method showing elevation in multiple sphingolipids."@en .