127 related articles for article (PubMed ID: 31289144)
21. Gallbladder polyposis in metachromatic leukodystrophy.
Agarwal A; Shipman PJ
Pediatr Radiol; 2013 Mar; 43(5):631-3. PubMed ID: 23052730
[TBL] [Abstract][Full Text] [Related]
22. [Metachromatic leukodystrophy].
Eto Y; Hasegawa Y; Kurosawa K
Ryoikibetsu Shokogun Shirizu; 1998; (19 Pt 2):379-84. PubMed ID: 9645087
[No Abstract] [Full Text] [Related]
23. Autophagy in Gaucher disease due to saposin C deficiency.
Tatti M; Motta M; Salvioli R
Autophagy; 2011 Jan; 7(1):94-5. PubMed ID: 20980829
[TBL] [Abstract][Full Text] [Related]
24. A mutation in the saposin A domain of the sphingolipid activator protein (prosaposin) gene results in a late-onset, chronic form of globoid cell leukodystrophy in the mouse.
Matsuda J; Vanier MT; Saito Y; Tohyama J; Suzuki K; Suzuki K
Hum Mol Genet; 2001 May; 10(11):1191-9. PubMed ID: 11371512
[TBL] [Abstract][Full Text] [Related]
25. Clinical and ultrastructural ocular histopathologic studies of adult-onset metachromatic leukodystrophy.
Quigley HA; Green WR
Am J Ophthalmol; 1976 Sep; 82(3):472-9. PubMed ID: 961798
[TBL] [Abstract][Full Text] [Related]
26. High prevalence of I179S mutation in patients with late-onset metachromatic leukodystrophy.
Lugowska A; Berger J; Tylki-Szymañska A; Czartoryska B; Löschl B; Molzer B
Clin Genet; 2002 May; 61(5):389-90. PubMed ID: 12081727
[No Abstract] [Full Text] [Related]
27. [Characterization of a new type of metachromatic leukodystrophy].
Turpin JC; Dubois G; Baumann N
C R Acad Hebd Seances Acad Sci D; 1974 May; 278(22):2819-22. PubMed ID: 4212575
[No Abstract] [Full Text] [Related]
28. Mutations associated with very late-onset metachromatic leukodystrophy.
Perusi C; Lira MG; Duyff RF; Weinstein HC; Pignatti PF; Rizzuto N; Salviati A
Clin Genet; 1999 Feb; 55(2):130. PubMed ID: 10189092
[No Abstract] [Full Text] [Related]
29. [Lysosomal diseases [metachromatic leukodystrophy (adult), Krabbe's disease (adult)]].
Kuriyama M
Nihon Rinsho; 2004 Jan; 62 Suppl():393-8. PubMed ID: 15011393
[No Abstract] [Full Text] [Related]
30. Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophy.
Rafi MA; Zhang XL; DeGala G; Wenger DA
Biochem Biophys Res Commun; 1990 Jan; 166(2):1017-23. PubMed ID: 2302219
[TBL] [Abstract][Full Text] [Related]
31. Subclinical leukodystrophy and infertility in a man with a novel homozygous CLCN2 mutation.
Di Bella D; Pareyson D; Savoiardo M; Farina L; Ciano C; Caldarazzo S; Sagnelli A; Bonato S; Nava S; Bresolin N; Tedeschi G; Taroni F; Salsano E
Neurology; 2014 Sep; 83(13):1217-8. PubMed ID: 25128180
[No Abstract] [Full Text] [Related]
32. Discrimination between metachromatic leukodystrophy and pseudo-deficiency of arylsulfatase A by restriction digest of amplified gene fragments.
Ben-Yoseph Y; Mitchell DA
Am J Med Sci; 1995 Feb; 309(2):88-91. PubMed ID: 7847447
[TBL] [Abstract][Full Text] [Related]
33. Characterization of a mutation in a family with saposin B deficiency: a glycosylation site defect.
Kretz KA; Carson GS; Morimoto S; Kishimoto Y; Fluharty AL; O'Brien JS
Proc Natl Acad Sci U S A; 1990 Apr; 87(7):2541-4. PubMed ID: 2320574
[TBL] [Abstract][Full Text] [Related]
34. [Demonstration of arylsulfatase A deficiency in metachromatic leukodystrophy and prenatal diagnosis of the disease].
Tsvetkova IV; Bakharev VA; Kazi Z; Osipova GN; Rozenfel'd EL
Vopr Med Khim; 1980; 26(4):461-4. PubMed ID: 6109402
[TBL] [Abstract][Full Text] [Related]
35. [Deficiency of arylsulfatase A activity as a basis of metachromatic leucodystrophy].
Lugowska A; Tylki-Szymańska A
Postepy Biochem; 1996; 42(3):284-9. PubMed ID: 9036380
[No Abstract] [Full Text] [Related]
36. Adult metachromatic leukodystrophy: a new mutation in the schizophrenia-like phenotype with early neurological signs.
Kumperscak HG; Plesnicar BK; Zalar B; Gradisnik P; Seruga T; Paschke E
Psychiatr Genet; 2007 Apr; 17(2):85-91. PubMed ID: 17413447
[TBL] [Abstract][Full Text] [Related]
37. 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]
38. An unusual homozygous arylsulfatase: a pseudodeficiency in a metachromatic leukodystrophy Tunisian patient.
Tinsa F; Caillaud C; Vanier MT; Bousnina D; Boussetta K; Bousnina S
J Child Neurol; 2010 Jan; 25(1):82-6. PubMed ID: 19574581
[TBL] [Abstract][Full Text] [Related]
39. Late-onset metachromatic leukodystrophy clinically presenting as isolated peripheral neuropathy: compound heterozygosity for the IVS2+1G-->A mutation and a newly identified missense mutation (Thr408Ile) in a Spanish family.
Comabella M; Waye JS; Raguer N; Eng B; Domínguez C; Navarro C; Borrás C; Krivit W; Montalbán X
Ann Neurol; 2001 Jul; 50(1):108-12. PubMed ID: 11456299
[TBL] [Abstract][Full Text] [Related]
40. Molecular and phenotypic characteristics of metachromatic leukodystrophy patients from Poland.
Ługowska A; Berger J; Tylki-Szymańska A; Löschl B; Molzer B; Zobel M; Czartoryska B
Clin Genet; 2005 Jul; 68(1):48-54. PubMed ID: 15952986
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
