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22. Assay of beta-glucosidase and sphingomyelinase for identification of patients and carriers of Gaucher's and Niemann-Pick diseases. Wenger DA Adv Exp Med Biol; 1978; 101():707-17. PubMed ID: 208369 [No Abstract] [Full Text] [Related]
23. [Enzyme defects of fat metabolism]. Sailer S; Sandhofer F Wien Klin Wochenschr; 1971 Sep; 83(35):623-4. PubMed ID: 4109072 [No Abstract] [Full Text] [Related]
24. [Lipid composition of the normal human brain and its variations during various diseases]. Rouser G; Galli G; Kritchevsky G Pathol Biol; 1967 Feb; 15(3):195-200. PubMed ID: 4862318 [No Abstract] [Full Text] [Related]
25. Deficiency of arylsulphatase A in leucocytes and skin fibroblasts in juvenile machromatic leucodystrophy. Leroy JG; Dumon J; Radermecker J Nature; 1970 May; 226(5245):553-4. PubMed ID: 5442355 [No Abstract] [Full Text] [Related]
26. Diagnostic techniques in metachromatic leukodystrophy. Julius R; Buehler B; Aylsworth A; Petery LS; Rennert O; Greer M Neurology; 1971 Jan; 21(1):15-8. PubMed ID: 4099955 [No Abstract] [Full Text] [Related]
27. Early diagnosis in Niemann-Pick disease. Toussi T; Delvin EE; Glorieux FH; Goldman H Can Med Assoc J; 1974 Sep; 111(6):556, 559-60. PubMed ID: 4412885 [TBL] [Abstract][Full Text] [Related]
28. Leukocyte glucocerebrosidase deficiency diagnostic in adult Gaucher's disease with negative bone marrow biopsy. Some properties of the enzyme in leukocytes and spleen. Klibansky C; Hoffmann J; Pinkhas J; Algom D; Dintzman M; Ben-Bassat M; De Vries A Eur J Clin Invest; 1974 Apr; 4(2):101-7. PubMed ID: 4832717 [No Abstract] [Full Text] [Related]
29. Prenatal Niemann-Pick disease: biochemical and histologic examination of a 19-gestational week fetus. Schneider EL; Ellis WG; Brady RO; McCulloch JR; Epstein CJ Pediatr Res; 1972 Sep; 6(9):720-9. PubMed ID: 4643533 [No Abstract] [Full Text] [Related]
30. Cerebroside-sulphatase and arylsulphatase A deficiency in metachromatic leukodystrophy (ML). Jatzkewitz H; Mehl E J Neurochem; 1969 Jan; 16(1):19-28. PubMed ID: 5776610 [No Abstract] [Full Text] [Related]
31. Acid hydrolases in plasma in Gaucher's disease. Ockerman PA; Kohlin P Clin Chem; 1969 Jan; 15(1):61-4. PubMed ID: 4884797 [No Abstract] [Full Text] [Related]
32. [Biological diagnosis of Gaucher's disease]. Berhoune A; Zenati A; Bellahsene Z; Khiari M; Maiza H; Zighout M; Khati S; Oukaci Y; Khati B Tunis Med; 1980; 58(1-2):452-7. PubMed ID: 6782723 [No Abstract] [Full Text] [Related]
33. Prenatal genetic diagnosis (second of three parts). Milunsky A; Littlefield JW; Kanfer JN; Kolodny EH; Shih VE; Atkins L N Engl J Med; 1970 Dec; 283(26):1441-7. PubMed ID: 4098222 [No Abstract] [Full Text] [Related]
34. [A case of sphingolipidosis with accumulation of various lipids in different organs and multiple enzymatic changes in the liver]. Giardini O; Cardi E; Castro M; Cao M Minerva Pediatr; 1975 Dec; 27(39):2188-94. PubMed ID: 172772 [No Abstract] [Full Text] [Related]
35. Letters: A simple sphingomyelinase determination for Niemann-Pick disease: differential diagnosis of types A, B and C. Harzer K; Benz HU J Neurochem; 1973 Oct; 21(4):999-1001. PubMed ID: 4356842 [No Abstract] [Full Text] [Related]
36. Tay-Sachs and other lipid storage diseases. Friedman B HSMHA Health Rep; 1971 Sep; 86(9):769-74. PubMed ID: 4331588 [No Abstract] [Full Text] [Related]
38. Cerebral degenerative disorders of infancy and childhood. Noronha MJ Dev Med Child Neurol; 1974 Apr; 16(2):228-41. PubMed ID: 4209600 [No Abstract] [Full Text] [Related]
39. Metachromatic leucodystrophy. Two unusual cases of the late infantile form. Nyberg-Hansen R Z Neurol; 1972; 203(2):145-54. PubMed ID: 4119025 [No Abstract] [Full Text] [Related]
40. [Chemodiagnosis of metachromatic leukodystrophy (sulfatide lipoidosis)]. van Kempen GM Ned Tijdschr Geneeskd; 1969 Sep; 113(38):1634-6. PubMed ID: 5344616 [No Abstract] [Full Text] [Related] [Previous] [Next] [New Search]