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42. First-trimester diagnosis of metachromatic leucodystrophy. Fensom AH; Marsh J; Jackson M; McGuire VM; Vimal C; Nicolaides K; Sheridan R Clin Genet; 1988 Aug; 34(2):122-5. PubMed ID: 2903806 [TBL] [Abstract][Full Text] [Related]
43. Variability of exressivity of alpha-fucosidase deficiency. Patel V; Zeman W Adv Exp Med Biol; 1976; 68():167-86. PubMed ID: 7102 [No Abstract] [Full Text] [Related]
44. A mouse model for fucosidosis recapitulates storage pathology and neurological features of the milder form of the human disease. Wolf H; Damme M; Stroobants S; D'Hooge R; Beck HC; Hermans-Borgmeyer I; Lüllmann-Rauch R; Dierks T; Lübke T Dis Model Mech; 2016 Sep; 9(9):1015-28. PubMed ID: 27491075 [TBL] [Abstract][Full Text] [Related]
45. Biochemical studies on an unusual case of fucosidosis. Alhadeff JA; Andrews-Smith GL; O'Brien JS Clin Genet; 1978 Oct; 14(4):235-40. PubMed ID: 699363 [No Abstract] [Full Text] [Related]
46. Ocular findings in a case of fucosidosis. Snodgrass MB Br J Ophthalmol; 1976 Jul; 60(7):508-11. PubMed ID: 952824 [TBL] [Abstract][Full Text] [Related]
47. Fluorometric assay of the arylsulphatases in human urine. Hultberg B J Clin Chem Clin Biochem; 1979 Dec; 17(12):795-7. PubMed ID: 44721 [TBL] [Abstract][Full Text] [Related]
48. A Rare Case of Metachromatic Leukodystrophy Confirmed by Arylsulfatase A. Alam ST; Akhter S; Rahman MM; Islam KA; Siddique R; Helaly L; Ahmed S Mymensingh Med J; 2015 Oct; 24(4):864-7. PubMed ID: 26620033 [TBL] [Abstract][Full Text] [Related]
49. Fucosidosis. Dvoretzky I; Fisher BK Int J Dermatol; 1979 Apr; 18(3):213-6. PubMed ID: 110711 [No Abstract] [Full Text] [Related]
50. Diagnosis of myelin disorders by the biochemical analysis of tears. Van Hoof F; Campoy C Bull Soc Belge Ophtalmol; 1983 Nov; 208 Pt 1():291-5. PubMed ID: 6144340 [No Abstract] [Full Text] [Related]
51. Two patients with an unusual form of type II fucosidosis. Schoonderwaldt HC; Lamers KJ; Kleijnen FM; van den Berg CJ; de Bruyn CH Clin Genet; 1980 Nov; 18(5):348-54. PubMed ID: 7460371 [TBL] [Abstract][Full Text] [Related]
52. Lipid storage diseases: review of the cases admitted to the Istituto Neurologico. D'Angelo A; Moise A; Rimoldi M; Bertagnolio B; Ottolenghi A; Tettamanti G; Di Donato S Biochem Exp Biol; 1977; 13(1):71-8. PubMed ID: 26367 [No Abstract] [Full Text] [Related]
53. Lysosomal enzyme activities in frozen, non-cultured chorionic villi for prenatal diagnosis of enzymopathies. Németh M; László A; Kovács A; Falkay G Acta Med Hung; 1992-1993; 49(1-2):143-8. PubMed ID: 1363580 [TBL] [Abstract][Full Text] [Related]
54. [Diagnostic problems in children with metachromatic leukodystrophy]. Michałowicz R; Ignatowicz R; Potakiewicz W; Kmieć T; Onyszkiewicz J; Radelicka H Wiad Lek; 1986 Nov; 39(21):1494-8. PubMed ID: 2883775 [No Abstract] [Full Text] [Related]
56. Fucosidosis: a neuropathological study. Bugiani O; Borrone C Riv Patol Nerv Ment; 1976 Jun; 97(3):133-41. PubMed ID: 1032031 [TBL] [Abstract][Full Text] [Related]
57. Acid hydrolases in serum from patients with lysosomal disorders. Hultberg B; Isaksson A; Sjöblad S; Ockerman PA Clin Chim Acta; 1980 Jan; 100(1):33-8. PubMed ID: 6766092 [TBL] [Abstract][Full Text] [Related]
58. Diagnosis of metachromatic leukodystrophy by immune quantification of arylsulphatase A protein and activity in dried blood spots. Tan MA; Dean CJ; Hopwood JJ; Meikle PJ Clin Chem; 2008 Nov; 54(11):1925-7. PubMed ID: 18957564 [No Abstract] [Full Text] [Related]
59. Canine alpha-L-fucosidosis: a storage disease of Springer Spaniels. Kelly WR; Clague AE; Barns RJ; Bate MJ; MacKay BM Acta Neuropathol; 1983; 60(1-2):9-13. PubMed ID: 6880626 [TBL] [Abstract][Full Text] [Related]
60. [Structures of 9 oligosaccharides and glycopeptides containing large amounts of fucose excreted in the urine of 2 patients with fucosidosis]. Strecker G; Fournet B; Spik G; Montreuil J; Durand P; Tondeur M C R Acad Hebd Seances Acad Sci D; 1977 Jan; 284(1):85-8. PubMed ID: 402234 [No Abstract] [Full Text] [Related] [Previous] [Next] [New Search]