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Results: 1 to 20 of 121

Similar articles for PubMed (Select 23412609)

1.

Morbidity and mortality in type B Niemann-Pick disease.

McGovern MM, Lippa N, Bagiella E, Schuchman EH, Desnick RJ, Wasserstein MP.

Genet Med. 2013 Aug;15(8):618-23. doi: 10.1038/gim.2013.4. Epub 2013 Feb 14.

PMID:
23412609
2.

Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients.

Hollak CE, de Sonnaville ES, Cassiman D, Linthorst GE, Groener JE, Morava E, Wevers RA, Mannens M, Aerts JM, Meersseman W, Akkerman E, Niezen-Koning KE, Mulder MF, Visser G, Wijburg FA, Lefeber D, Poorthuis BJ.

Mol Genet Metab. 2012 Nov;107(3):526-33. doi: 10.1016/j.ymgme.2012.06.015. Epub 2012 Jun 30.

PMID:
22818240
3.

A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B.

McGovern MM, Wasserstein MP, Giugliani R, Bembi B, Vanier MT, Mengel E, Brodie SE, Mendelson D, Skloot G, Desnick RJ, Kuriyama N, Cox GF.

Pediatrics. 2008 Aug;122(2):e341-9. doi: 10.1542/peds.2007-3016. Epub 2008 Jul 14.

4.

Adult-onset pulmonary involvement in Niemann-Pick disease type B.

Iaselli F, Rea G, Cappabianca S, Fabozzi G, Montemarano M, Vitale C, Stanziola AA, Muto R, Rotondo A.

Monaldi Arch Chest Dis. 2011 Dec;75(4):235-40. Review.

PMID:
22462311
5.
6.

Biochemical studies in Niemann-Pick disease. I. Major sphingolipids of liver and spleen.

Vanier MT.

Biochim Biophys Acta. 1983 Jan 7;750(1):178-84.

PMID:
6824712
7.

Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients.

Rodríguez-Pascau L, Gort L, Schuchman EH, Vilageliu L, Grinberg D, Chabás A.

Hum Mutat. 2009 Jul;30(7):1117-22. doi: 10.1002/humu.21018.

8.

R542X mutation in SMPD1 gene: genetically novel mutation with phenotypic features intermediate between type A and type B Niemann-Pick disease.

Aneja A, Sharma A, Dalal A, Sondhi V.

BMJ Case Rep. 2012 Nov 27;2012. pii: bcr2012006959. doi: 10.1136/bcr-2012-006959.

PMID:
23188845
9.

Analysis of the sphingomyelin phosphodiesterase 1 gene (SMPD1) in Turkish Niemann-Pick disease patients: mutation profile and description of a novel mutation.

Aykut A, Karaca E, Onay H, Ucar SK, Coker M, Cogulu O, Ozkinay F.

Gene. 2013 Sep 10;526(2):484-6. doi: 10.1016/j.gene.2013.03.116. Epub 2013 Apr 22.

PMID:
23618813
10.

Identification and characterization of eight novel SMPD1 mutations causing types A and B Niemann-Pick disease.

Desnick JP, Kim J, He X, Wasserstein MP, Simonaro CM, Schuchman EH.

Mol Med. 2010 Jul-Aug;16(7-8):316-21. doi: 10.2119/molmed.2010.00017. Epub 2010 Apr 6.

11.

Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease.

Zhang H, Wang Y, Gong Z, Li X, Qiu W, Han L, Ye J, Gu X.

Orphanet J Rare Dis. 2013 Jan 28;8:15. doi: 10.1186/1750-1172-8-15.

13.

Diagnostic and predictive methods for a Niemann-Pick disease type B patient with ocular involvement.

Kim C, Jeong J, Yu HG.

J Inherit Metab Dis. 2010 Oct;33(5):633-4. doi: 10.1007/s10545-010-9153-z. Epub 2010 Jun 29. No abstract available.

PMID:
20585986
14.

Two siblings with Niemann-Pick disease (NPD) type B: clinical findings and novel mutations of the acid sphingomyelinase gene.

Gucev Z, Tasic V, Pop-Jordanova N, Jancevska A, Simonaro CM, Schuchmann EH.

Indian J Pediatr. 2013 Feb;80(2):163-4. doi: 10.1007/s12098-012-0717-9. Epub 2012 Feb 25.

PMID:
22367733
15.

Lung disease in Niemann-Pick disease.

Guillemot N, Troadec C, de Villemeur TB, Clément A, Fauroux B.

Pediatr Pulmonol. 2007 Dec;42(12):1207-14.

PMID:
17969000
17.

A novel SMPD1 mutation in two Chinese sibling patients with type B Niemann-Pick disease.

Hua R, Wu H, Cui Z, Chen JX, Wang Z.

Chin Med J (Engl). 2012 Apr;125(8):1511-2.

PMID:
22613662
18.

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
19.

Chronic liver disease or tuberculosis: could it be Niemann-Pick disease?

Durusu Tanriover M, Demir Onal E, Uslu N, Onder S, Gurakan F.

Eur J Intern Med. 2008 Dec;19(8):e107-8. doi: 10.1016/j.ejim.2008.07.023. Epub 2008 Aug 28. No abstract available.

PMID:
19046704
20.

Niemann-pick disease type C: implications for sedation and anesthesia for diagnostic procedures.

Miao N, Lu X, O'Grady NP, Yanjanin N, Porter FD, Quezado ZM.

J Child Neurol. 2012 Dec;27(12):1541-6. doi: 10.1177/0883073812437243. Epub 2012 Feb 28. Review.

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