Kishnani PS - Search Results

1

Glucosylsphingosine (Lyso-Gb₁): An Informative Biomarker in the Clinical Monitoring of Patients with Gaucher Disease.

Gayed MM, Jung SH, Huggins E, Rodriguez-Rassi E, DeArmey S, Kishnani PS, Stiles AR. Gayed MM, et al. Among authors: kishnani ps. Int J Mol Sci. 2022 Nov 29;23(23):14938. doi: 10.3390/ijms232314938. Int J Mol Sci. 2022. PMID: 36499264 Free PMC article.

2

Diagnostic and treatment challenges of neuronopathic Gaucher disease: two cases with an intermediate phenotype.

Hanna R, McDonald MT, Sullivan JA, Mackey JF, Krishnamurthy V, Kishnani PS. Hanna R, et al. Among authors: kishnani ps. J Inherit Metab Dis. 2004;27(5):687-90. doi: 10.1023/b:boli.0000043027.80328.75. J Inherit Metab Dis. 2004. PMID: 15669686

3

Glucose tetrasaccharide as a biomarker for monitoring the therapeutic response to enzyme replacement therapy for Pompe disease.

An Y, Young SP, Kishnani PS, Millington DS, Amalfitano A, Corz D, Chen YT. An Y, et al. Among authors: kishnani ps. Mol Genet Metab. 2005 Aug;85(4):247-54. doi: 10.1016/j.ymgme.2005.03.010. Mol Genet Metab. 2005. PMID: 15886040

4

Fractures in children with Pompe disease: a potential long-term complication.

Case LE, Hanna R, Frush DP, Krishnamurthy V, DeArmey S, Mackey J, Boney A, Morgan C, Corzo D, Bouchard S, Weber TJ, Chen YT, Kishnani PS. Case LE, et al. Among authors: kishnani ps. Pediatr Radiol. 2007 May;37(5):437-45. doi: 10.1007/s00247-007-0428-y. Epub 2007 Mar 7. Pediatr Radiol. 2007. PMID: 17342521

5

Cardiac arrhythmias following anesthesia induction in infantile-onset Pompe disease: a case series.

Wang LY, Ross AK, Li JS, Dearmey SM, Mackey JF, Worden M, Corzo D, Morgan C, Kishnani PS. Wang LY, et al. Among authors: kishnani ps. Paediatr Anaesth. 2007 Aug;17(8):738-48. doi: 10.1111/j.1460-9592.2007.02215.x. Paediatr Anaesth. 2007. PMID: 17596219

6

Improvement with ongoing Enzyme Replacement Therapy in advanced late-onset Pompe disease: a case study.

Case LE, Koeberl DD, Young SP, Bali D, DeArmey SM, Mackey J, Kishnani PS. Case LE, et al. Among authors: kishnani ps. Mol Genet Metab. 2008 Dec;95(4):233-5. doi: 10.1016/j.ymgme.2008.09.001. Epub 2008 Oct 18. Mol Genet Metab. 2008. PMID: 18930676

7

A randomized trial comparing the efficacy and safety of imiglucerase (Cerezyme) infusions every 4 weeks versus every 2 weeks in the maintenance therapy of adult patients with Gaucher disease type 1.

Kishnani PS, DiRocco M, Kaplan P, Mehta A, Pastores GM, Smith SE, Puga AC, Lemay RM, Weinreb NJ. Kishnani PS, et al. Mol Genet Metab. 2009 Apr;96(4):164-70. doi: 10.1016/j.ymgme.2008.12.015. Epub 2009 Feb 4. Mol Genet Metab. 2009. PMID: 19195916 Clinical Trial.

8

Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants.

Kishnani PS, Goldenberg PC, DeArmey SL, Heller J, Benjamin D, Young S, Bali D, Smith SA, Li JS, Mandel H, Koeberl D, Rosenberg A, Chen YT. Kishnani PS, et al. Mol Genet Metab. 2010 Jan;99(1):26-33. doi: 10.1016/j.ymgme.2009.08.003. Mol Genet Metab. 2010. PMID: 19775921 Free PMC article. Clinical Trial.

9

Use of cardiac magnetic resonance imaging to evaluate cardiac structure, function and fibrosis in children with infantile Pompe disease on enzyme replacement therapy.

Barker PC, Pasquali SK, Darty S, Ing RJ, Li JS, Kim RJ, DeArmey S, Kishnani PS, Campbell MJ. Barker PC, et al. Among authors: kishnani ps. Mol Genet Metab. 2010 Dec;101(4):332-7. doi: 10.1016/j.ymgme.2010.07.011. Epub 2010 Jul 23. Mol Genet Metab. 2010. PMID: 20875764 Free PMC article.

10

The clinical and electrodiagnostic characteristics of Pompe disease with post-enzyme replacement therapy findings.

Hobson-Webb LD, Dearmey S, Kishnani PS. Hobson-Webb LD, et al. Among authors: kishnani ps. Clin Neurophysiol. 2011 Nov;122(11):2312-7. doi: 10.1016/j.clinph.2011.04.016. Epub 2011 May 13. Clin Neurophysiol. 2011. PMID: 21570905 Review.

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