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4. Alterations in cultured fibroblasts of sibs with an infantile form of a free (unbound) sialic acid storage disorder. Thomas GH; Scocca J; Libert J; Vamos E; Miller CS; Reynolds LW Pediatr Res; 1983 May; 17(5):307-12. PubMed ID: 6856393 [TBL] [Abstract][Full Text] [Related]
5. The spectrum of free neuraminic acid storage disease in childhood: clinical, morphological and biochemical observations in three non-Finnish patients. Sewell AC; Poets CF; Degen I; Stöss H; Pontz BF Am J Med Genet; 1996 May; 63(1):203-8. PubMed ID: 8723111 [TBL] [Abstract][Full Text] [Related]
6. Infantile type of sialic acid storage disease with sialuria. Paschke E; Trinkl G; Erwa W; Pavelka M; Mutz I; Roscher A Clin Genet; 1986 May; 29(5):417-24. PubMed ID: 3742847 [TBL] [Abstract][Full Text] [Related]
12. Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS. van den Bosch J; Oemardien LF; Srebniak MI; Piraud M; Huijmans JG; Verheijen FW; Ruijter GJ J Inherit Metab Dis; 2011 Oct; 34(5):1069-73. PubMed ID: 21617927 [TBL] [Abstract][Full Text] [Related]
13. Salla disease variant in a Dutch patient. Potential value of polymorphonuclear leucocytes for heterozygote detection. Mancini GM; Hu P; Verheijen FW; van Diggelen OP; Janse HC; Kleijer WJ; Beemer FA; Jennekens FG Eur J Pediatr; 1992 Aug; 151(8):590-5. PubMed ID: 1505579 [TBL] [Abstract][Full Text] [Related]
14. Prenatal diagnosis of fucosidosis. Matsuda I; Arashima S; Oka Y; Mitsuyama T; Ariga S Clin Chim Acta; 1975 Aug; 63(1):55-60. PubMed ID: 1181074 [TBL] [Abstract][Full Text] [Related]
15. Clinical and laboratory diagnosis of Salla disease in infancy and childhood. Renlund M J Pediatr; 1984 Feb; 104(2):232-6. PubMed ID: 6694015 [TBL] [Abstract][Full Text] [Related]
16. Sialic acid storage disease with sialuria: clinical and biochemical features in the severe infantile type. Stevenson RE; Lubinsky M; Taylor HA; Wenger DA; Schroer RJ; Olmstead PM Pediatrics; 1983 Oct; 72(4):441-9. PubMed ID: 6889058 [TBL] [Abstract][Full Text] [Related]
18. Isolated acid neuraminidase deficiency: a distinct lysosomal storage disease. Kelly TE; Graetz G Am J Med Genet; 1977; 1(1):31-46. PubMed ID: 610425 [TBL] [Abstract][Full Text] [Related]
19. Prenatal detection of Salla disease based upon increased free sialic acid in amniocytes. Renlund M; Aula P Am J Med Genet; 1987 Oct; 28(2):377-84. PubMed ID: 3425617 [TBL] [Abstract][Full Text] [Related]
20. Congenital ascites as a presenting sign of lysosomal storage disease. Gillan JE; Lowden JA; Gaskin K; Cutz E J Pediatr; 1984 Feb; 104(2):225-31. PubMed ID: 6420531 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]