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Items: 15

1.

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
2.

Molecular genetics of metachromatic leukodystrophy.

Gieselmann V, Polten A, Kreysing J, Kappler J, Fluharty A, von Figura K.

Dev Neurosci. 1991;13(4-5):222-7. Review.

PMID:
1687778
3.

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
4.

[Metachromatic leukodystrophy (MLD) and Multiple sulphatase deficiency (MSD)].

Eto Y, Hasegawa Y, Tsuda T.

Nihon Rinsho. 1995 Dec;53(12):2994-3003. Review. Japanese.

PMID:
8577048
5.

Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.

Cesani M, Lorioli L, Grossi S, Amico G, Fumagalli F, Spiga I, Filocamo M, Biffi A.

Hum Mutat. 2016 Jan;37(1):16-27. doi: 10.1002/humu.22919. Epub 2015 Nov 4. Review.

PMID:
26462614
6.

Gene therapy in metachromatic leukodystrophy.

Sevin C, Cartier-Lacave N, Aubourg P.

Int J Clin Pharmacol Ther. 2009;47 Suppl 1:S128-31. Review.

PMID:
20040324
7.

Molecular genetics of metachromatic leukodystrophy.

Gieselmann V, Polten A, Kreysing J, von Figura K.

J Inherit Metab Dis. 1994;17(4):500-9. Review.

PMID:
7967499
8.

[Metachromatic leucodystrophy. Clinical, biological, and therapeutic aspects].

Barboura I, Ferchichi S, Dandana A, Jaidane Z, Ben Khelifa S, Chahed H, Ben Mansour R, Chebel S, Maire I, Miled A.

Ann Biol Clin (Paris). 2010 Jul-Aug;68(4):385-91. doi: 10.1684/abc.2010.0448. Review. French.

9.

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
10.

Advances in the molecular genetics of metachromatic leukodystrophy.

Gieselmann V, von Figura K.

J Inherit Metab Dis. 1990;13(4):560-71. Review.

PMID:
1977956
11.

Gene therapy for metachromatic leukodystrophy.

Rosenberg JB, Kaminsky SM, Aubourg P, Crystal RG, Sondhi D.

J Neurosci Res. 2016 Nov;94(11):1169-79. doi: 10.1002/jnr.23792. Review.

12.

Metachromatic leukodystrophy: molecular genetics and an animal model.

Gieselmann V, Matzner U, Hess B, Lüllmann-Rauch R, Coenen R, Hartmann D, D'Hooge R, DeDeyn P, Nagels G.

J Inherit Metab Dis. 1998 Aug;21(5):564-74. Review.

PMID:
9728336
13.

Enzyme, cell and gene-based therapies for metachromatic leukodystrophy.

Sevin C, Aubourg P, Cartier N.

J Inherit Metab Dis. 2007 Apr;30(2):175-83. Epub 2007 Mar 8. Review.

PMID:
17347913
14.

Outcome of Early Juvenile Onset Metachromatic Leukodystrophy After Unrelated Cord Blood Transplantation: A Case Series and Review of the Literature.

Chen X, Gill D, Shaw P, Ouvrier R, Troedson C.

J Child Neurol. 2016 Mar;31(3):338-44. doi: 10.1177/0883073815595078. Epub 2015 Jul 17. Review.

PMID:
26187619
15.

"Pseudodeficiencies" of lysosomal hydrolases.

Thomas GH.

Am J Hum Genet. 1994 Jun;54(6):934-40. Review. No abstract available.

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