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Results: 1 to 20 of 166

Similar articles for PubMed (Select 1670590)

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.

Metachromatic leukodystrophy: Disease spectrum and approaches for treatment.

van Rappard DF, Boelens JJ, Wolf NI.

Best Pract Res Clin Endocrinol Metab. 2015 Mar;29(2):261-273. doi: 10.1016/j.beem.2014.10.001. Epub 2014 Oct 16. Review.

PMID:
25987178
3.

Abnormalities of acid-base balance and predisposition to metabolic acidosis in Metachromatic Leukodystrophy patients.

Lorioli L, Cicalese MP, Silvani P, Assanelli A, Salvo I, Mandelli A, Fumagalli F, Fiori R, Ciceri F, Aiuti A, Sessa M, Roncarolo MG, Lanzani C, Biffi A.

Mol Genet Metab. 2015 May;115(1):48-52. doi: 10.1016/j.ymgme.2015.02.009. Epub 2015 Mar 6.

PMID:
25796965
4.

Leukodystrophy or genetic leukoencephalopathy? Nature does not make leaps.

Salsano E.

Mol Genet Metab. 2015 Apr;114(4):491-3. doi: 10.1016/j.ymgme.2015.02.005. Epub 2015 Feb 27. No abstract available.

PMID:
25748346
5.

Pathology of the gallbladder in a child with metachromatic leukodystrophy.

McFadden K, Ranganathan S.

Pediatr Dev Pathol. 2015 May-Jun;18(3):228-30. doi: 10.2350/14-09-1551-CR.1. Epub 2015 Jan 8.

PMID:
25569213
6.

[Analysis of phenotype and genotype in a family with late infantile metachromatic leukodystrophy].

Yang J, Cao J, Li Y, Zheng H, Li J, Liang Y, Liu Z, Wang L, Zhang C.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Oct;31(5):615-8. doi: 10.3760/cma.j.issn.1003-9406.2014.01.017. Chinese.

PMID:
25297594
7.

Epidemiology of lysosomal storage diseases in Sweden.

Hult M, Darin N, von Döbeln U, Månsson JE.

Acta Paediatr. 2014 Dec;103(12):1258-63. doi: 10.1111/apa.12807. Epub 2014 Oct 15.

PMID:
25274184
8.

Metachromatic leukodystrophy presenting as bipolar disorder.

Velakoulis D, Ting A, Winton-Brown T, Walterfang M, Gaillard F.

Aust N Z J Psychiatry. 2014 Dec;48(12):1171-2. doi: 10.1177/0004867414550212. Epub 2014 Sep 18. No abstract available.

PMID:
25237139
9.

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 23;83(13):1217-8. doi: 10.1212/WNL.0000000000000812. Epub 2014 Aug 15. No abstract available.

PMID:
25128180
10.

A 5-year-old male child with late infantile metachromatic leukodystrophy: a case report.

Mahmood A, Chacham S, Reddy UN, Rao JN, Rao SP.

J Child Neurol. 2015 Mar;30(4):483-5. doi: 10.1177/0883073814542948. Epub 2014 Aug 12.

PMID:
25117420
11.

Hematopoietic SCT: a useful treatment for late metachromatic leukodystrophy.

Solders M, Martin DA, Andersson C, Remberger M, Andersson T, Ringdén O, Solders G.

Bone Marrow Transplant. 2014 Aug;49(8):1046-51. doi: 10.1038/bmt.2014.93. Epub 2014 May 5.

PMID:
24797185
12.

Leukodystrophy presenting as acute-onset polyradiculoneuropathy.

Dubey R, Chakrabarty B, Gulati S, Sharma MC, Deopujari S, Baheti N, Santosh V, Pai G, Kabra M.

Pediatr Neurol. 2014 Jun;50(6):616-8. doi: 10.1016/j.pediatrneurol.2014.01.028. Epub 2014 Jan 16.

PMID:
24685010
13.

Language and cognition in children with metachromatic leukodystrophy: onset and natural course in a nationwide cohort.

Kehrer C, Groeschel S, Kustermann-Kuhn B, Bürger F, Köhler W, Kohlschütter A, Bley A, Steinfeld R, Gieselmann V, Krägeloh-Mann I; German LEUKONET.

Orphanet J Rare Dis. 2014 Feb 5;9:18. doi: 10.1186/1750-1172-9-18.

14.

A homozygote for the c.459+1G>A mutation in the ARSA gene presents with cerebellar ataxia as the only first clinical sign of metachromatic leukodystrophy.

Lugowska A, Mierzewska H, Bekiesińska-Figatowska M, Szczepanik E, Goszczańska-Ciuchta A, Bednarska-Makaruk M.

J Neurol Sci. 2014 Mar 15;338(1-2):214-7. doi: 10.1016/j.jns.2013.12.030. Epub 2013 Dec 31.

PMID:
24411407
15.

Critical issues for the proper diagnosis of Metachromatic Leukodystrophy.

Lorioli L, Cesani M, Regis S, Morena F, Grossi S, Fumagalli F, Acquati S, Redaelli D, Pini A, Sessa M, Martino S, Filocamo M, Biffi A.

Gene. 2014 Mar 10;537(2):348-51. doi: 10.1016/j.gene.2013.11.062. Epub 2013 Dec 12.

PMID:
24334127
16.

Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy.

Luzi P, Rafi MA, Rao HZ, Wenger DA.

Gene. 2013 Nov 10;530(2):323-8. doi: 10.1016/j.gene.2013.08.065. Epub 2013 Aug 31.

PMID:
24001781
17.

Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy.

Biffi A, Montini E, Lorioli L, Cesani M, Fumagalli F, Plati T, Baldoli C, Martino S, Calabria A, Canale S, Benedicenti F, Vallanti G, Biasco L, Leo S, Kabbara N, Zanetti G, Rizzo WB, Mehta NA, Cicalese MP, Casiraghi M, Boelens JJ, Del Carro U, Dow DJ, Schmidt M, Assanelli A, Neduva V, Di Serio C, Stupka E, Gardner J, von Kalle C, Bordignon C, Ciceri F, Rovelli A, Roncarolo MG, Aiuti A, Sessa M, Naldini L.

Science. 2013 Aug 23;341(6148):1233158. doi: 10.1126/science.1233158. Epub 2013 Jul 11.

18.

Apolipoprotein E genotype and LRP1 polymorphisms in patients with different clinical types of metachromatic leukodystrophy.

Ługowska A, Musielak M, Jamroz E, Pyrkosz A, Kmieć T, Tylki-Szymańska A, Bednarska-Makaruk M.

Gene. 2013 Sep 10;526(2):176-81. doi: 10.1016/j.gene.2013.05.009. Epub 2013 May 20.

PMID:
23701968
19.

Lysosomal leukodystrophies: Krabbe disease and metachromatic leukodystrophy.

Kohlschütter A.

Handb Clin Neurol. 2013;113:1611-8. doi: 10.1016/B978-0-444-59565-2.00029-0. Review.

PMID:
23622382
20.

An Italian cohort study identifies four new pathologic mutations in the ARSA gene.

Galla D, de Gemmis P, Anesi L, Berto S, Dolcetta D, Hladnik U.

J Mol Neurosci. 2013 Jun;50(2):284-90. doi: 10.1007/s12031-013-0006-8. Epub 2013 Apr 5.

PMID:
23559313
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