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Items: 1 to 20 of 209

1.

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 3;324(1):18-22.

2.

Late-onset metachromatic leukodystrophy: molecular pathology in two siblings.

Kappler J, von Figura K, Gieselmann V.

Ann Neurol. 1992 Mar;31(3):256-61.

PMID:
1353340
3.

Complex arylsulfatase A alleles causing metachromatic leukodystrophy.

Kappler J, Sommerlade HJ, von Figura K, Gieselmann V.

Hum Mutat. 1994;4(2):119-27.

PMID:
7981715
4.

Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy.

Gieselmann V, Fluharty AL, Tønnesen T, Von Figura K.

Am J Hum Genet. 1991 Aug;49(2):407-13.

7.

[Molecular analysis of Japanese patients with metachromatic leukodystrophy].

Hasegawa Y, Kawame H, Eto Y.

Nihon Rinsho. 1993 Sep;51(9):2314-8. Japanese.

PMID:
8105116
8.

Novel mutations in the arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy.

Bertelli M, Gallo S, Buda A, Cecchin S, Fabbri A, Lapucci C, Andrighetto G, Sidoti V, Lorusso L, Pandolfo M.

J Clin Neurosci. 2006 May;13(4):443-8.

PMID:
16678723
9.

Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity.

Regis S, Corsolini F, Stroppiano M, Cusano R, Filocamo M.

Hum Genet. 2002 Apr;110(4):351-5. Epub 2002 Mar 8.

PMID:
11941485
10.

Molecular genetics of metachromatic leukodystrophy.

Gieselmann V, Zlotogora J, Harris A, Wenger DA, Morris CP.

Hum Mutat. 1994;4(4):233-42. Review.

PMID:
7866401
11.

Late juvenile metachromatic leukodystrophy (MLD) in three patients with a similar clinical course and identical mutation on one allele.

Tylki-Szymanska A, Berger J, Löschl B, Lugowska A, Molzer B.

Clin Genet. 1996 Nov;50(5):287-92.

PMID:
9007312
12.

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.

PMID:
7749412
13.

Metachromatic leukodystrophy--an update.

Gieselmann V, Krägeloh-Mann I.

Neuropediatrics. 2010 Feb;41(1):1-6. doi: 10.1055/s-0030-1253412. Epub 2010 Jun 22. Review.

PMID:
20571983
15.
17.

[Molecular screening of the major mutations in the ARSA gene in patients with metachromatic leukodystrophy].

Horovenko NH, Ol'khovych NV, Pichkur NO.

Tsitol Genet. 2002 Sep-Oct;36(5):43-8. Ukrainian.

PMID:
12442547
18.
19.

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. doi: 10.1177/0883073809334382. Epub 2009 Jul 2.

PMID:
19574581
20.

Diagnosis of arylsulfatase A deficiency.

Li ZG, Waye JS, Chang PL.

Am J Med Genet. 1992 Aug 1;43(6):976-82.

PMID:
1357970

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