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Items: 1 to 20 of 126

1.

[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.

2.

Identification of a new Arylsulfatase A (ARSA) gene mutation in Tunisian patients with metachromatic leukodystrophy (MLD).

Dorboz I, Eymard-Pierre E, Kefi R, Abdelhak S, Miladi N, Boespflug-Tanguy O; Tunisian Leukodystrophy Study Group.

J Neurol Sci. 2009 Dec 15;287(1-2):278-80. doi: 10.1016/j.jns.2009.07.023. Epub 2009 Aug 21.

PMID:
19699491
3.
4.

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
5.

Increasing sulfatide synthesis in myelin-forming cells of arylsulfatase A-deficient mice causes demyelination and neurological symptoms reminiscent of human metachromatic leukodystrophy.

Ramakrishnan H, Hedayati KK, Lüllmann-Rauch R, Wessig C, Fewou SN, Maier H, Goebel HH, Gieselmann V, Eckhardt M.

J Neurosci. 2007 Aug 29;27(35):9482-90.

6.

[Pathophysiology of sulfatide metabolism in metachromatic leukodystrophy].

Wiesmann UN.

Bull Schweiz Akad Med Wiss. 1978 Mar;34(1-3):33-47. German.

PMID:
27269
7.

Impaired cerebroside sulfate hydrolysis in fibroblasts of sibs with "pseudo" arylsulfatase A deficiency without metachromatic leukodystrophy.

Hreidarsson SJ, Thomas GH, Kihara H, Fluharty AL, Kolodny EH, Moser HW, Reynolds LW.

Pediatr Res. 1983 Sep;17(9):701-4.

PMID:
6137805
9.

Motor and psycho-cognitive clinical types in adult metachromatic leukodystrophy: genotype/phenotype relationships?

Baumann N, Turpin JC, Lefevre M, Colsch B.

J Physiol Paris. 2002 Apr-Jun;96(3-4):301-6.

PMID:
12445909
10.

Urine sulfatides and the diagnosis of metachromatic leukodystrophy.

Natowicz MR, Prence EM, Chaturvedi P, Newburg DS.

Clin Chem. 1996 Feb;42(2):232-8.

12.

In vitro correction of ARSA deficiency in human skin fibroblasts from metachromatic leukodystrophy patients after treatment with microencapsulated recombinant cells.

Lagranha VL, Baldo G, de Carvalho TG, Burin M, Saraiva-Pereira ML, Matte U, Giugliani R.

Metab Brain Dis. 2008 Dec;23(4):469-84. doi: 10.1007/s11011-008-9107-4. Epub 2008 Sep 17.

PMID:
18797988
13.

High residual arylsulfatase A (ARSA) activity in a patient with late-infantile metachromatic leukodystrophy.

Kreysing J, Bohne W, Bösenberg C, Marchesini S, Turpin JC, Baumann N, von Figura K, Gieselmann V.

Am J Hum Genet. 1993 Aug;53(2):339-46.

14.
15.

Metachromatic leukodystrophy and pseudoarylsulfatase A deficiency in a Danish family.

Tønnesen T, Bro PV, Brøndum Nielsen K, Lykkelund C.

Acta Paediatr Scand. 1983 Mar;72(2):175-8.

PMID:
6132516
16.

Novel mutations in arylsulfatase A gene in three Ukrainian families with metachromatic leukodystrophy.

Olkhovich NV, Takamura N, Pichkur NA, Gorovenko NG, Aoyagi K, Yamashita S.

Mol Genet Metab. 2003 Nov;80(3):360-3.

PMID:
14680985
17.

Compound heterozygosity for metachromatic leukodystrophy and arylsulfatase A pseudodeficiency alleles is not associated with progressive neurological disease.

Penzien JM, Kappler J, Herschkowitz N, Schuknecht B, Leinekugel P, Propping P, Tønnesen T, Lou H, Moser H, Zierz S, et al.

Am J Hum Genet. 1993 Mar;52(3):557-64.

18.

The R496H mutation of arylsulfatase A does not cause metachromatic leukodystrophy.

Ricketts MH, Poretz RD, Manowitz P.

Hum Mutat. 1998;12(4):238-9.

PMID:
9744473
19.

[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
20.

Prevalence of partial cerebroside sulfate sulfatase (arylsulfatase A) defect in adult psychiatric patients.

Shah SN, Johnson RC, Stone RK, Mahon-Haft H.

Biol Psychiatry. 1985 Jan;20(1):50-7.

PMID:
2856894

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