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Items: 15

1.

Characterization of four arylsulfatase A missense mutations G86D, Y201C, D255H, and E312D causing metachromatic leukodystrophy.

Hermann S, Schestag F, Polten A, Kafert S, Penzien J, Zlotogora J, Baumann N, Gieselmann V.

Am J Med Genet. 2000 Mar 6;91(1):68-73.

PMID:
10751093
2.

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
3.

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
4.

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
5.

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
6.

Metachromatic leukodystrophy: recent research developments.

Gieselmann V.

J Child Neurol. 2003 Sep;18(9):591-4. Review.

PMID:
14572136
7.

[Deficiency of arylsulfatase A activity as a basis of metachromatic leucodystrophy].

Lugowska A, Tylki-SzymaƄska A.

Postepy Biochem. 1996;42(3):284-9. Review. Polish. No abstract available.

PMID:
9036380
8.

Sphingolipid activator protein B deficiency: report of 9 Saudi patients and review of the literature.

Al-Hassnan ZN, Al Dhalaan H, Patay Z, Faqeih E, Al-Owain M, Al-Duraihem A, Faiyaz-Ul-Haque M.

J Child Neurol. 2009 Dec;24(12):1513-9. doi: 10.1177/0883073809341269. Review.

PMID:
19955343
9.

Biochemical aspects of globoid and metachromatic leukodystrophies.

Farooqui AA, Horrocks LA.

Neurochem Pathol. 1984 Fall;2(3):189-218. Review.

PMID:
6152665
11.

[Metachromatic leukodystrophy].

Eto Y, Hasegawa Y, Kurosawa K.

Ryoikibetsu Shokogun Shirizu. 1998;(19 Pt 2):379-84. Review. Japanese. No abstract available.

PMID:
9645087
12.

The arylsulphatase A gene and molecular genetics of metachromatic leucodystrophy.

Barth ML, Fensom A, Harris A.

J Med Genet. 1994 Sep;31(9):663-6. Review. No abstract available.

13.

[Saposin C deficiency].

Sano A.

Ryoikibetsu Shokogun Shirizu. 1998;(19 Pt 2):420-2. Review. Japanese. No abstract available.

PMID:
9645098
14.

"Pseudodeficiencies" of lysosomal hydrolases.

Thomas GH.

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

15.

Metachromatic form of diffuse cerebral sclerosis: I. Diagnosis during life by urine sediment examination. 1957.

Austin JH.

Neurology. 1998 Aug;51(2):333 and 12 pages following. Review. No abstract available.

PMID:
9709996
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