These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

231 related articles for article (PubMed ID: 21002)

  • 21. The diagnostic value of sural nerve biopsy in metachromatic leucodystrophy and other conditions with low leucocyte arylsulphatase A activities.
    Vos AJ; Joosten EM; Gabreëls-Festen AA; Gabreëls FJ; Notermans SL; Lamers KJ
    Neuropediatrics; 1982 Feb; 13(1):42-6. PubMed ID: 6123090
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Metachromatic leukodystrophy without arylsulfatase A deficiency.
    Shapiro LJ; Aleck KA; Kaback MM; Itabashi H; Desnick RJ; Brand N; Stevens RL; Fluharty AL; Kihara H
    Pediatr Res; 1979 Oct; 13(10):1179-81. PubMed ID: 41211
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Metachromatic leukodystrophy: clinical and enzymatic parameters.
    McKhann GM
    Neuropediatrics; 1984 Sep; 15 Suppl():4-10. PubMed ID: 6152812
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Pseudodeficiencies in lysosomal storage disorders.
    Zlotogora J; Bach G
    Lancet; 1985 Dec; 2(8467):1296. PubMed ID: 2866352
    [No Abstract]   [Full Text] [Related]  

  • 25. Genetic heterogeneity in metachromatic leukodystrophy.
    Kihara H
    Am J Hum Genet; 1982 Mar; 34(2):171-81. PubMed ID: 6122378
    [No Abstract]   [Full Text] [Related]  

  • 26. Presymptomatic diagnosis: metachromatic leukodystrophy or pseudo arylsulphatase A deficiency?
    Kihara H; Fluharty AL; Ng WG; Leider W
    J Inherit Metab Dis; 1982; 5(4):215-7. PubMed ID: 6133034
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Very low arylsulfatase A and cerebroside sulfatase activities in leukocytes of healthy members of metachromatic leukodystrophy family.
    Dubois G; Harzer K; Baumann N
    Am J Hum Genet; 1977 Mar; 29(2):191-4. PubMed ID: 15452
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Prenatal exclusion of metachromatic leukodystrophy by estimation of arylsulphatase A activity in chorion and cultured amniotic fluid cells.
    Tsvetkova IV; Zolotukhina TV; Bakharev VA; Rosenfeld EL; Rosovsky IS
    Prenat Diagn; 1983 Jul; 3(3):233-6. PubMed ID: 6137815
    [TBL] [Abstract][Full Text] [Related]  

  • 29. The molecular detection of the pseudodeficiency allele for arylsulphatase A in patients with neurological symptoms and low arylsulphatase A activity.
    Goldenfum S; Malcolm S; Young E; Winchester B
    J Inherit Metab Dis; 1993; 16(6):1048-9. PubMed ID: 7907382
    [No Abstract]   [Full Text] [Related]  

  • 30. Genetic complementation in somatic cell hybrids of cerebroside sulfatase activator deficiency and metachromatic leukodystrophy fibroblasts.
    Kihara H; Tsay KK; Fluharty AL
    Hum Genet; 1984; 66(4):300-1. PubMed ID: 6144627
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Low arylsulphatase A activity in a family without metachromatic leukodystrophy.
    Butterworth J; Broadhead DM; Keay AJ
    Clin Genet; 1978 Oct; 14(4):213-8. PubMed ID: 699360
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Discussion: Metachromatic leukodystrophy, an unusual case with a subtle cerebroside sulfatase defect.
    Kihara H
    UCLA Forum Med Sci; 1975; (18):501-6. PubMed ID: 828
    [No Abstract]   [Full Text] [Related]  

  • 33. A variant form of metachromatic leukodystrophy without arylsulfatase deficiency.
    Hahn AF; Gordon BA; Hinton GG; Gilbert JJ
    Ann Neurol; 1982 Jul; 12(1):33-6. PubMed ID: 6126151
    [TBL] [Abstract][Full Text] [Related]  

  • 34. [Arylsulfatase deficiency and various metabolic diseases].
    Czyzewska K; Działoszyński L
    Pediatr Pol; 1978 Sep; 53(9):1129-35. PubMed ID: 30935
    [No Abstract]   [Full Text] [Related]  

  • 35. Multiple molecular forms of arylsulfatase A in different forms of metachromatic leukodystrophy (MLD).
    Farrell DF; MacMartin MP; Clark AF
    Neurology; 1979 Jan; 29(1):16-20. PubMed ID: 34126
    [TBL] [Abstract][Full Text] [Related]  

  • 36. [Prenatal diagnosis of metachromatic leukodystrophy].
    Török O; Szokol M; Fényi A; Polgár K; Szabó M; Papp Z
    Orv Hetil; 1985 Feb; 126(5):273-6. PubMed ID: 2858087
    [No Abstract]   [Full Text] [Related]  

  • 37. An adult onset metachromatic leukodystrophy with dominant inheritance and normal arylsulphatase A levels.
    Wright GD; Patel MK; Mikel J
    J Neurol Sci; 1988 Nov; 87(2-3):153-66. PubMed ID: 2905384
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Molecular genetics of metachromatic leukodystrophy.
    Gieselmann V; Polten A; Kreysing J; von Figura K
    J Inherit Metab Dis; 1994; 17(4):500-9. PubMed ID: 7967499
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Metachromatic leucodystrophy: a newly identified mutation in arylsulphatase A, D281Y, found as a compound heterozygote with I179L in an adult onset case.
    Halsall DJ; Halligan EP; Elsey TS; Cox TM
    Hum Mutat; 1999 Nov; 14(5):447. PubMed ID: 10533072
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Metachromatic leukodystrophy. I. Prenatal detection of arylsulphatase A deficiency.
    van der Hagen CB; Borresen AL; Molne K; Oftedal G; Bjoro K; Berg K
    Clin Genet; 1973; 4(3):256-9. PubMed ID: 4765208
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 12.