Vanier MT - Search Results

1

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

2

Niemann-Pick disease type C: an update.

Vanier MT, Pentchev P, Rodriguez-Lafrasse C, Rousson R. Vanier MT, et al. J Inherit Metab Dis. 1991;14(4):580-95. doi: 10.1007/BF01797928. J Inherit Metab Dis. 1991. PMID: 1749223 Review.

3

A new variant of sphingomyelinase deficiency (Niemann-Pick): visceromegaly, minimal neurological lesions and low in vivo degradation rate of sphingomyelin.

Elleder M, Nevoral J, Spicáková V, Hyniová H, Kraus J, Krásný J, Vanier MT. Elleder M, et al. Among authors: vanier mt. J Inherit Metab Dis. 1986;9(4):357-66. doi: 10.1007/BF01800485. J Inherit Metab Dis. 1986. PMID: 3104673

4

[Sphingomyelinase deficiency (Niemann-Pick) type A. A new variant with an unusually prolonged course].

Elleder M, Cihula J, Vanier MT. Elleder M, et al. Among authors: vanier mt. Sb Lek. 1988 Jan;90(1):21-5. Sb Lek. 1988. PMID: 3368740 Czech. No abstract available.

5

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.

6

A family with visceral course of Niemann-Pick disease, macular halo syndrome and low sphingomyelin degradation rate.

Sperl W, Bart G, Vanier MT, Christomanou H, Baldissera I, Steichen-Gersdorf E, Paschke E. Sperl W, et al. Among authors: vanier mt. J Inherit Metab Dis. 1994;17(1):93-103. doi: 10.1007/BF00735404. J Inherit Metab Dis. 1994. PMID: 8051942

7

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

8

Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis.

Carstea ED, Morris JA, Coleman KG, Loftus SK, Zhang D, Cummings C, Gu J, Rosenfeld MA, Pavan WJ, Krizman DB, Nagle J, Polymeropoulos MH, Sturley SL, Ioannou YA, Higgins ME, Comly M, Cooney A, Brown A, Kaneski CR, Blanchette-Mackie EJ, Dwyer NK, Neufeld EB, Chang TY, Liscum L, Strauss JF 3rd, Ohno K, Zeigler M, Carmi R, Sokol J, Markie D, O'Neill RR, van Diggelen OP, Elleder M, Patterson MC, Brady RO, Vanier MT, Pentchev PG, Tagle DA. Carstea ED, et al. Among authors: vanier mt. Science. 1997 Jul 11;277(5323):228-31. doi: 10.1126/science.277.5323.228. Science. 1997. PMID: 9211849

9

Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group.

Millat G, Chikh K, Naureckiene S, Sleat DE, Fensom AH, Higaki K, Elleder M, Lobel P, Vanier MT. Millat G, et al. Among authors: vanier mt. Am J Hum Genet. 2001 Nov;69(5):1013-21. doi: 10.1086/324068. Epub 2001 Sep 20. Am J Hum Genet. 2001. PMID: 11567215 Free PMC article.

10

Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C.

Ries M, Schaefer E, Lührs T, Mani L, Kuhn J, Vanier MT, Krummenauer F, Gal A, Beck M, Mengel E. Ries M, et al. Among authors: vanier mt. J Inherit Metab Dis. 2006 Oct;29(5):647-52. doi: 10.1007/s10545-006-0363-3. Epub 2006 Jul 27. J Inherit Metab Dis. 2006. PMID: 16972172

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