Vanier MT - Search Results

1

Bone marrow transplantation in metachromatic leukodystrophy caused by saposin-B deficiency: a case report with a 3-year follow-up period.

Landrieu P, Blanche S, Vanier MT, Metral S, Husson B, Sandhoff K, Fischer A. Landrieu P, et al. Among authors: vanier mt. J Pediatr. 1998 Jul;133(1):129-32. doi: 10.1016/s0022-3476(98)70191-x. J Pediatr. 1998. PMID: 9672525

2

[Cataplexy revealing an atypical form of Niemann-Pick disease type C].

Denoix C, Rodriguez-Lafrasse C, Vanier MT, Navelet Y, Landrieu P. Denoix C, et al. Among authors: vanier mt. Arch Fr Pediatr. 1991 Jan;48(1):31-4. Arch Fr Pediatr. 1991. PMID: 2018419 French. No abstract available.

3

Collaborative study of the molecular epidemiology of Tay-Sachs disease in Europe.

Akli S, Boue J, Sandhoff K, Kleijer W, Vamos E, Young E, Gatti R, Di Natale P, Motte J, Vanier MT, et al. Akli S, et al. Among authors: vanier mt. Eur J Hum Genet. 1993;1(3):229-38. doi: 10.1159/000472416. Eur J Hum Genet. 1993. PMID: 8044648

4

Deletion of arginine (608) in acid sphingomyelinase is the prevalent mutation among Niemann-Pick disease type B patients from northern Africa.

Vanier MT, Ferlinz K, Rousson R, Duthel S, Louisot P, Sandhoff K, Suzuki K. Vanier MT, et al. Hum Genet. 1993 Oct;92(4):325-30. doi: 10.1007/BF01247328. Hum Genet. 1993. PMID: 8225311

5

Analysis of a splice-site mutation in the sap-precursor gene of a patient with metachromatic leukodystrophy.

Henseler M, Klein A, Reber M, Vanier MT, Landrieu P, Sandhoff K. Henseler M, et al. Among authors: vanier mt. Am J Hum Genet. 1996 Jan;58(1):65-74. Am J Hum Genet. 1996. PMID: 8554069 Free PMC article.

6

Targeted disruption of the mouse sphingolipid activator protein gene: a complex phenotype, including severe leukodystrophy and wide-spread storage of multiple sphingolipids.

Fujita N, Suzuki K, Vanier MT, Popko B, Maeda N, Klein A, Henseler M, Sandhoff K, Nakayasu H, Suzuki K. Fujita N, et al. Among authors: vanier mt. Hum Mol Genet. 1996 Jun;5(6):711-25. doi: 10.1093/hmg/5.6.711. Hum Mol Genet. 1996. PMID: 8776585

7

Metachromatic leukodystrophy without arylsulfatase A deficiency: a new case of saposin-B deficiency.

Deconinck N, Messaaoui A, Ziereisen F, Kadhim H, Sznajer Y, Pelc K, Nassogne MC, Vanier MT, Dan B. Deconinck N, et al. Among authors: vanier mt. Eur J Paediatr Neurol. 2008 Jan;12(1):46-50. doi: 10.1016/j.ejpn.2007.05.004. Epub 2007 Jul 5. Eur J Paediatr Neurol. 2008. PMID: 17616409

8

Molecular analysis of the acid sphingomyelinase deficiency in a family with an intermediate form of Niemann-Pick disease.

Ferlinz K, Hurwitz R, Weiler M, Suzuki K, Sandhoff K, Vanier MT. Ferlinz K, et al. Among authors: vanier mt. Am J Hum Genet. 1995 Jun;56(6):1343-9. Am J Hum Genet. 1995. PMID: 7762557 Free PMC article.

9

A mutation in the saposin A domain of the sphingolipid activator protein (prosaposin) gene results in a late-onset, chronic form of globoid cell leukodystrophy in the mouse.

Matsuda J, Vanier MT, Saito Y, Tohyama J, Suzuki K, Suzuki K. Matsuda J, et al. Among authors: vanier mt. Hum Mol Genet. 2001 May 15;10(11):1191-9. doi: 10.1093/hmg/10.11.1191. Hum Mol Genet. 2001. PMID: 11371512

10

Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study.

Pavlů-Pereira H, Asfaw B, Poupctová H, Ledvinová J, Sikora J, Vanier MT, Sandhoff K, Zeman J, Novotná Z, Chudoba D, Elleder M. Pavlů-Pereira H, et al. Among authors: vanier mt. J Inherit Metab Dis. 2005;28(2):203-27. doi: 10.1007/s10545-005-5671-5. J Inherit Metab Dis. 2005. PMID: 15877209

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

236 results

Search Page

Filters