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Items: 1 to 20 of 131

1.

Molecular basis of acid sphingomyelinase deficiency in a patient with Niemann-Pick disease type A.

Ferlinz K, Hurwitz R, Sandhoff K.

Biochem Biophys Res Commun. 1991 Sep 30;179(3):1187-91.

PMID:
1718266
2.

Identification and expression of a missense mutation (Y446C) in the acid sphingomyelinase gene from a Japanese patient with type A Niemann-Pick disease.

Takahashi T, Suchi M, Sato W, Ten SB, Sakuragawa N, Desnick RJ, Schuchman EH, Takada G.

Tohoku J Exp Med. 1995 Oct;177(2):117-23.

5.

Identification of a missense mutation (S436R) in the acid sphingomyelinase gene from a Japanese patient with type B Niemann-Pick disease.

Takahashi T, Desnick RJ, Takada G, Schuchman EH.

Hum Mutat. 1992;1(1):70-1. No abstract available.

PMID:
1301192
6.

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.

Hum Genet. 1993 Oct;92(4):325-30.

PMID:
8225311
8.

Identification of a 3' acceptor splice site mutation (g2610c) in the acid sphingomyelinase gene of patients with Niemann-Pick disease.

Levran O, Desnick RJ, Schuchman EH.

Hum Mol Genet. 1993 Feb;2(2):205-6. No abstract available.

PMID:
8499909
9.

Identification of three novel mutations in the acid sphinogomyelinase gene of Japanese patients with Niemann-Pick disease type A and B.

Ida H, Rennert OM, Maekawa K, Eto Y.

Hum Mutat. 1996;7(1):65-7. No abstract available.

PMID:
8664904
10.

Type A Niemann-Pick disease: a frameshift mutation in the acid sphingomyelinase gene (fsP330) occurs in Ashkenazi Jewish patients.

Levran O, Desnick RJ, Schuchman EH.

Hum Mutat. 1993;2(4):317-9. No abstract available.

PMID:
8401540
11.

Niemann-Pick type C disease: novel NPC1 mutations and characterization of the concomitant acid sphingomyelinase deficiency.

Tamura H, Takahashi T, Ban N, Torisu H, Ninomiya H, Takada G, Inagaki N.

Mol Genet Metab. 2006 Feb;87(2):113-21.

PMID:
16143556
12.

Genetic analysis of human placental aromatase deficiency.

Harada N.

J Steroid Biochem Mol Biol. 1993 Mar;44(4-6):331-40.

PMID:
7682836
13.
14.

[Advances in molecular genetics of the Niemann-Pick group of diseases].

Ohno K.

Nihon Rinsho. 1993 Sep;51(9):2293-9. Review. Japanese.

PMID:
8411705
15.
16.

Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease.

Horinouchi K, Erlich S, Perl DP, Ferlinz K, Bisgaier CL, Sandhoff K, Desnick RJ, Stewart CL, Schuchman EH.

Nat Genet. 1995 Jul;10(3):288-93.

PMID:
7670466
17.

A mutation generating a stop codon in the alpha-L-fucosidase gene of a fucosidosis patient.

Yang M, Allen H, DiCioccio RA.

Biochem Biophys Res Commun. 1992 Dec 15;189(2):1063-8.

PMID:
1281988
18.
19.

Acid sphingomyelinase: identification of nine novel mutations among Italian Niemann Pick type B patients and characterization of in vivo functional in-frame start codon.

Pittis MG, Ricci V, Guerci VI, Marçais C, Ciana G, Dardis A, Gerin F, Stroppiano M, Vanier MT, Filocamo M, Bembi B.

Hum Mutat. 2004 Aug;24(2):186-7.

PMID:
15241805
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