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 *

118 related articles for article (PubMed ID: 25128180)

  • 21. [Phenylketonuria in combination with leukodystrophy].
    Barashnev IuI; Shaposhnikov AM; Korneĭchuk VV; Khal'chitskiĭ SE; Kaladzhieva LV
    Vopr Okhr Materin Det; 1978 Jul; 23(7):46-9. PubMed ID: 685205
    [No Abstract]   [Full Text] [Related]  

  • 22. [Juvenile form of metachromatic leukodystrophy. Clinical variant of sulfatidosis].
    Turpin JC; Elchardus JF; Morice J; Georges MC; Dubois G
    Pediatrie; 1978; 3(7):629-36. PubMed ID: 33363
    [No Abstract]   [Full Text] [Related]  

  • 23. A novel mutation in the arylsulfatase A gene associated with adult-onset metachromatic leukodystrophy without clinical evidence of neuropathy.
    Suzuki C; Watanabe M; Tomiyama M; Sugimoto K; Nanba E; Jackson M; Kimura T; Seino Y; Wakasaya Y; Kawarabayashi T; Miki Y; Yamamoto-Watanabe Y; Shoji M
    Eur Neurol; 2008; 60(6):310-1. PubMed ID: 18832844
    [No Abstract]   [Full Text] [Related]  

  • 24. [Metachromatic Leukodystrophy (MLD): MRI findings].
    Fenchel M; Hauser TK; Nägele T; Ernemann U; Horger M
    Rofo; 2011 Oct; 183(10):893-5. PubMed ID: 22232791
    [No Abstract]   [Full Text] [Related]  

  • 25. [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]  

  • 26. Infantile metachromatic leukodystrophy: deficiency of arylsulfatase A in skin fibroblasts: heterozygote detection.
    Kaback M
    Birth Defects Orig Artic Ser; 1971 Feb; 7(1):239. PubMed ID: 5317490
    [No Abstract]   [Full Text] [Related]  

  • 27. [Enzymologic detection of metachromatic leukodystrophy: limitations in prenatal diagnosis].
    Turpin JC
    Sem Hop; 1977 Dec; 53(42):2445-6. PubMed ID: 23583
    [No Abstract]   [Full Text] [Related]  

  • 28. Molecular basis of late infantile metachromatic leukodystrophy in the Habbanite Jews.
    Zlotogora J; Bach G; Bösenberg C; Barak Y; von Figura K; Gieselmann V
    Hum Mutat; 1995; 5(2):137-43. PubMed ID: 7749412
    [TBL] [Abstract][Full Text] [Related]  

  • 29. [Adult form of metachromatic leukodystrophy with predominantly psychotic manifestations].
    Penzien JM; Herschkowitz N; Gieselmann V
    Nervenarzt; 1994 Jan; 65(1):73. PubMed ID: 8145880
    [No Abstract]   [Full Text] [Related]  

  • 30. Metachromatic leukodystrophy: a novel mutation (c237delC) and extension of the haplotype associated with the P426L mutation.
    Gort L; Coll MJ; Chabás A
    Hum Mutat; 2000 Oct; 16(4):375-6. PubMed ID: 11013459
    [No Abstract]   [Full Text] [Related]  

  • 31. Identification of seven novel mutations associated with metachromatic leukodystrophy.
    Barth ML; Fensom A; Harris A
    Hum Mutat; 1995; 6(2):170-6. PubMed ID: 7581401
    [No Abstract]   [Full Text] [Related]  

  • 32. A homozygote for the c.459+1G>A mutation in the ARSA gene presents with cerebellar ataxia as the only first clinical sign of metachromatic leukodystrophy.
    Lugowska A; Mierzewska H; Bekiesińska-Figatowska M; Szczepanik E; Goszczańska-Ciuchta A; Bednarska-Makaruk M
    J Neurol Sci; 2014 Mar; 338(1-2):214-7. PubMed ID: 24411407
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Enzymic detection of metachromatic leukodystrophy patients and heterozygotes.
    Jordan TW; Casey B; Weston HJ
    N Z Med J; 1977 May; 85(587):369-72. PubMed ID: 23508
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Identification of a novel splicing mutation in the ARSA gene in a patient with late-infantile form of metachromatic leukodystrophy.
    Kang DH; Lee DH; Hong YH; Lee ST; Jeon BR; Lee YK; Ki CS; Lee YW
    Korean J Lab Med; 2010 Oct; 30(5):516-20. PubMed ID: 20890085
    [TBL] [Abstract][Full Text] [Related]  

  • 35. [Manic-like psychoses and progressive dementia. A possible case of familial leukodystrophy].
    Jørgensen PB
    Ugeskr Laeger; 1983 Feb; 145(7):500-1. PubMed ID: 6845519
    [No Abstract]   [Full Text] [Related]  

  • 36. Genetics of metachromatic leukodystrophy.
    Gieselmann V; Kreysing J; von Figura K
    Gene Ther; 1994; 1 Suppl 1():S87. PubMed ID: 8542433
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Late infantile metachromatic leucodystrophy in two siblings.
    Koul RL; Gururaj A; Chacko AP; Elbualy MS; Bhusnurmath SR; Chand P
    Indian Pediatr; 1994 Jun; 31(6):694-8. PubMed ID: 7896397
    [No Abstract]   [Full Text] [Related]  

  • 38. Molecular basis of different forms of metachromatic leukodystrophy.
    Polten A; Fluharty AL; Fluharty CB; Kappler J; von Figura K; Gieselmann V
    N Engl J Med; 1991 Jan; 324(1):18-22. PubMed ID: 1670590
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Should TSPYL1 mutation screening be included in routine diagnostics of male idiopathic infertility?
    Javaher P; Stuhrmann M; Wilke C; Frenzel E; Manukjan G; Grosshenig A; Dechend F; Schwaab E; Schmidtke J; Schubert S
    Fertil Steril; 2012 Feb; 97(2):402-6. PubMed ID: 22137496
    [TBL] [Abstract][Full Text] [Related]  

  • 40. [Diagnostic enzyme studies in patients with metachromatic leukodystrophy, and their relatives].
    Aranka L; Ilona N; Zoltán H
    Orv Hetil; 1975 Mar; 116(9):483-8. PubMed ID: 1114007
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 6.