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Items: 1 to 20 of 116

1.

Liver and skin histopathology in adults with acid sphingomyelinase deficiency (Niemann-Pick disease type B).

Thurberg BL, Wasserstein MP, Schiano T, O'Brien F, Richards S, Cox GF, McGovern MM.

Am J Surg Pathol. 2012 Aug;36(8):1234-46. doi: 10.1097/PAS.0b013e31825793ff.

2.

Clearance of Hepatic Sphingomyelin by Olipudase Alfa Is Associated With Improvement in Lipid Profiles in Acid Sphingomyelinase Deficiency.

Thurberg BL, Wasserstein MP, Jones SA, Schiano TD, Cox GF, Puga AC.

Am J Surg Pathol. 2016 Sep;40(9):1232-42. doi: 10.1097/PAS.0000000000000659.

3.

Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency.

Wasserstein MP, Jones SA, Soran H, Diaz GA, Lippa N, Thurberg BL, Culm-Merdek K, Shamiyeh E, Inguilizian H, Cox GF, Puga AC.

Mol Genet Metab. 2015 Sep-Oct;116(1-2):88-97. doi: 10.1016/j.ymgme.2015.05.013. Epub 2015 May 30.

4.

Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases.

Cassiman D, Packman S, Bembi B, Turkia HB, Al-Sayed M, Schiff M, Imrie J, Mabe P, Takahashi T, Mengel KE, Giugliani R, Cox GF.

Mol Genet Metab. 2016 Jul;118(3):206-13. doi: 10.1016/j.ymgme.2016.05.001. Epub 2016 May 11. Review.

5.

[Acid sphingomyelinase deficiency (Niemann-Pick disease type B) in adulthood: A retrospective multicentric study of 28 adult cases].

Lidove O, Belmatoug N, Froissart R, Lavigne C, Durieu I, Mazodier K, Serratrice C, Douillard C, Goizet C, Cathebras P, Besson G, Amoura Z, Tazi A, Gatfossé M, Rivière S, Sené T, Vanier MT, Ziza JM.

Rev Med Interne. 2017 May;38(5):291-299. doi: 10.1016/j.revmed.2016.10.387. Epub 2016 Nov 22. French.

PMID:
27884455
6.

Pulmonary delivery of recombinant acid sphingomyelinase improves clearance of lysosomal sphingomyelin from the lungs of a murine model of Niemann-Pick disease.

Ziegler RJ, Brown C, Barbon CM, D'Angona AM, Schuchman EH, Andrews L, Thurberg BL, McPherson JM, Karey KP, Cheng SH.

Mol Genet Metab. 2009 May;97(1):35-42. doi: 10.1016/j.ymgme.2009.01.008. Epub 2009 Jan 25.

PMID:
19231265
7.

Nonclinical safety assessment of recombinant human acid sphingomyelinase (rhASM) for the treatment of acid sphingomyelinase deficiency:the utility of animal models of disease in the toxicological evaluation of potential therapeutics.

Murray JM, Thompson AM, Vitsky A, Hawes M, Chuang WL, Pacheco J, Wilson S, McPherson JM, Thurberg BL, Karey KP, Andrews L.

Mol Genet Metab. 2015 Feb;114(2):217-25. doi: 10.1016/j.ymgme.2014.07.005. Epub 2014 Jul 12.

8.

Novel first-dose adverse drug reactions during a phase I trial of olipudase alfa (recombinant human acid sphingomyelinase) in adults with Niemann-Pick disease type B (acid sphingomyelinase deficiency).

McGovern MM, Wasserstein MP, Kirmse B, Duvall WL, Schiano T, Thurberg BL, Richards S, Cox GF.

Genet Med. 2016 Jan;18(1):34-40. doi: 10.1038/gim.2015.24. Epub 2015 Apr 2.

PMID:
25834946
9.

Juvenile dystonic lipidosis (variant of Niemann-Pick disease type C).

Martin JJ, Lowenthal A, Ceuterick C, Vanier MT.

J Neurol Sci. 1984 Oct;66(1):33-45.

PMID:
6520612
10.

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
11.
13.

Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD).

McGovern MM, Avetisyan R, Sanson BJ, Lidove O.

Orphanet J Rare Dis. 2017 Feb 23;12(1):41. doi: 10.1186/s13023-017-0572-x. Review.

14.

Lyso-sphingomyelin is elevated in dried blood spots of Niemann-Pick B patients.

Chuang WL, Pacheco J, Cooper S, McGovern MM, Cox GF, Keutzer J, Zhang XK.

Mol Genet Metab. 2014 Feb;111(2):209-11. doi: 10.1016/j.ymgme.2013.11.012. Epub 2013 Dec 7.

PMID:
24418695
15.
16.

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
17.

Infusion of recombinant human acid sphingomyelinase into niemann-pick disease mice leads to visceral, but not neurological, correction of the pathophysiology.

Miranda SR, He X, Simonaro CM, Gatt S, Dagan A, Desnick RJ, Schuchman EH.

FASEB J. 2000 Oct;14(13):1988-95.

PMID:
11023983
18.

Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases.

Kuchar L, Sikora J, Gulinello ME, Poupetova H, Lugowska A, Malinova V, Jahnova H, Asfaw B, Ledvinova J.

Anal Biochem. 2017 May 15;525:73-77. doi: 10.1016/j.ab.2017.02.019. Epub 2017 Mar 1.

PMID:
28259515
19.

Delivery of acid sphingomyelinase in normal and niemann-pick disease mice using intercellular adhesion molecule-1-targeted polymer nanocarriers.

Garnacho C, Dhami R, Simone E, Dziubla T, Leferovich J, Schuchman EH, Muzykantov V, Muro S.

J Pharmacol Exp Ther. 2008 May;325(2):400-8. doi: 10.1124/jpet.107.133298. Epub 2008 Feb 20.

20.

Morphological diagnosis of Niemann-Pick disease type C by skin and conjunctival biopsies.

Arsénio-Nunes ML, Goutières F.

Acta Neuropathol Suppl. 1981;7:204-7.

PMID:
6261515

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