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23. Spectrum of Lysosomal storage disorders at a medical genetics center in northern India. Verma PK; Ranganath P; Dalal AB; Phadke SR Indian Pediatr; 2012 Oct; 49(10):799-804. PubMed ID: 22791670 [TBL] [Abstract][Full Text] [Related]
24. Oligosaccharide analysis in urine by maldi-tof mass spectrometry for the diagnosis of lysosomal storage diseases. Xia B; Asif G; Arthur L; Pervaiz MA; Li X; Liu R; Cummings RD; He M Clin Chem; 2013 Sep; 59(9):1357-68. PubMed ID: 23676310 [TBL] [Abstract][Full Text] [Related]
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26. Methylamine accumulation in cultured cells as a measure of the aqueous storage compartment in the laboratory diagnosis of genetic lysosomal diseases. Kopitz J; Harzer K; Kohlschütter A; Zöller B; Blenck N; Cantz M Am J Med Genet; 1996 May; 63(1):198-202. PubMed ID: 8723110 [TBL] [Abstract][Full Text] [Related]
27. [Prenatal diagnosis of lysosomal diseases]. Owada M; Nishiya O; Moriya M Nihon Rinsho; 1995 Dec; 53(12):2926-32. PubMed ID: 8577037 [No Abstract] [Full Text] [Related]
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30. [Prenatal diagnosis of lysosomal storage disease in the USSR]. Mirenburg TV; Aronovich EL; Krasnopol'skaia KD; Lebedeva TV; Akhunov VS; Biriukov VB; Bakharev VA; Bartseva OB Akush Ginekol (Mosk); 1991 Mar; (3):12-8. PubMed ID: 1905498 [No Abstract] [Full Text] [Related]
31. Concentrations of an activator protein for sphingolipid hydrolysis in liver and brain samples from patients with lysosomal storage diseases. Inui K; Wenger DA J Clin Invest; 1983 Nov; 72(5):1622-8. PubMed ID: 6415115 [TBL] [Abstract][Full Text] [Related]
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36. Antenatal diagnosis of sphingolipid and mucopolysaccharide storage diseases. Lowden JA; Rudd N; Cutz E; Doran TA Can Med Assoc J; 1975 Sep; 113(6):507-11. PubMed ID: 808260 [TBL] [Abstract][Full Text] [Related]
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40. Variability of acid hydrolase activities in cultured skin fibroblasts and amniotic fluid cells. Young E; Willcox P; Whitfield AE; Patrick AD J Med Genet; 1975 Sep; 12(3):224-9. PubMed ID: 809585 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]