Kishnani PS - Search Results

1

Are we prepared to deliver gene-targeted therapies for rare diseases?

Yu TW, Kingsmore SF, Green RC, MacKenzie T, Wasserstein M, Caggana M, Gold NB, Kennedy A, Kishnani PS, Might M, Brooks PJ, Morris JA, Parisi MA, Urv TK. Yu TW, et al. Among authors: kishnani ps. Am J Med Genet C Semin Med Genet. 2023 Mar;193(1):7-12. doi: 10.1002/ajmg.c.32029. Epub 2023 Jan 24. Am J Med Genet C Semin Med Genet. 2023. PMID: 36691939

2

Lysosomal storage diseases: diagnostic confirmation and management of presymptomatic individuals.

Wang RY, Bodamer OA, Watson MS, Wilcox WR; ACMG Work Group on Diagnostic Confirmation of Lysosomal Storage Diseases. Wang RY, et al. Genet Med. 2011 May;13(5):457-84. doi: 10.1097/GIM.0b013e318211a7e1. Genet Med. 2011. PMID: 21502868 Free article.

3

Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapy.

Forsha D, Li JS, Smith PB, van der Ploeg AT, Kishnani P, Pasquali SK; Late-Onset Treatment Study Investigators. Forsha D, et al. Genet Med. 2011 Jul;13(7):625-31. doi: 10.1097/GIM.0b013e3182142966. Genet Med. 2011. PMID: 21543987 Free PMC article. Clinical Trial.

4

Screening, patient identification, evaluation, and treatment in patients with Gaucher disease: Results from a Delphi consensus.

Kishnani PS, Al-Hertani W, Balwani M, Göker-Alpan Ö, Lau HA, Wasserstein M, Weinreb NJ, Grabowski G. Kishnani PS, et al. Mol Genet Metab. 2022 Feb;135(2):154-162. doi: 10.1016/j.ymgme.2021.12.009. Epub 2021 Dec 22. Mol Genet Metab. 2022. PMID: 34972655 Free article.

5

In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease.

Cohen JL, Chakraborty P, Fung-Kee-Fung K, Schwab ME, Bali D, Young SP, Gelb MH, Khaledi H, DiBattista A, Smallshaw S, Moretti F, Wong D, Lacroix C, El Demellawy D, Strickland KC, Lougheed J, Moon-Grady A, Lianoglou BR, Harmatz P, Kishnani PS, MacKenzie TC. Cohen JL, et al. Among authors: kishnani ps. N Engl J Med. 2022 Dec 8;387(23):2150-2158. doi: 10.1056/NEJMoa2200587. Epub 2022 Nov 9. N Engl J Med. 2022. PMID: 36351280 Free PMC article.

6

Intrauterine enzyme replacement therapies for lysosomal storage disorders: Current developments and promising future prospects.

Herzeg A, Borges B, Lianoglou BR, Gonzalez-Velez J, Canepa E, Munar D, Young SP, Bali D, Gelb MH, Chakraborty P, Kishnani PS, Harmatz P, Cohen JL, MacKenzie TC. Herzeg A, et al. Among authors: kishnani ps. Prenat Diagn. 2023 Dec;43(13):1638-1649. doi: 10.1002/pd.6460. Epub 2023 Nov 13. Prenat Diagn. 2023. PMID: 37955580 Review.

7

Benzoate therapy and carnitine deficiency in non-ketotic hyperglycinemia.

Van Hove JL, Kishnani P, Muenzer J, Wenstrup RJ, Summar ML, Brummond MR, Lachiewicz AM, Millington DS, Kahler SG. Van Hove JL, et al. Am J Med Genet. 1995 Dec 4;59(4):444-53. doi: 10.1002/ajmg.1320590410. Am J Med Genet. 1995. PMID: 8585564

8

Hemangioma, supraumbilical midline raphé, and coarctation of the aorta with a right aortic arch: single causal entity?

Kishnani P, Iafolla AK, McConkie-Rosell A, Van Hove JL, Kanter RJ, Kahler SG. Kishnani P, et al. Am J Med Genet. 1995 Oct 23;59(1):44-8. doi: 10.1002/ajmg.1320590110. Am J Med Genet. 1995. PMID: 8849010

9

Treatment of pyruvate carboxylase deficiency with high doses of citrate and aspartate.

Ahmad A, Kahler SG, Kishnani PS, Artigas-Lopez M, Pappu AS, Steiner R, Millington DS, Van Hove JL. Ahmad A, et al. Among authors: kishnani ps. Am J Med Genet. 1999 Dec 3;87(4):331-8. doi: 10.1002/(sici)1096-8628(19991203)87:4<331::aid-ajmg10>3.0.co;2-k. Am J Med Genet. 1999. PMID: 10588840

10

Prenatal diagnosis of Down syndrome: how best to deliver the news.

Skotko BG, Kishnani PS, Capone GT; Down Syndrome Diagnosis Study Group. Skotko BG, et al. Among authors: kishnani ps. Am J Med Genet A. 2009 Nov;149A(11):2361-7. doi: 10.1002/ajmg.a.33082. Am J Med Genet A. 2009. PMID: 19787699

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

358 results

Search Page