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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 2
2002 1
2003 3
2004 6
2005 3
2006 15
2007 9
2008 4
2009 15
2010 17
2011 16
2012 23
2013 19
2014 18
2015 20
2016 20
2017 29
2018 21
2019 28
2020 31
2021 26
2022 21
2023 33
2024 20

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337 results

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Page 1
Glycogen storage diseases.
Hannah WB, Derks TGJ, Drumm ML, Grünert SC, Kishnani PS, Vissing J. Hannah WB, et al. Among authors: kishnani ps. Nat Rev Dis Primers. 2023 Sep 7;9(1):46. doi: 10.1038/s41572-023-00456-z. Nat Rev Dis Primers. 2023. PMID: 37679331 Review.
Pompe disease diagnosis and management guideline.
Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE, Crowley JF, Downs S, Howell RR, Kravitz RM, Mackey J, Marsden D, Martins AM, Millington DS, Nicolino M, O'Grady G, Patterson MC, Rapoport DM, Slonim A, Spencer CT, Tifft CJ, Watson MS. Kishnani PS, et al. Genet Med. 2006 May;8(5):267-88. doi: 10.1097/01.gim.0000218152.87434.f3. Genet Med. 2006. PMID: 16702877 Free PMC article. No abstract available.
Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics.
Kishnani PS, Austin SL, Abdenur JE, Arn P, Bali DS, Boney A, Chung WK, Dagli AI, Dale D, Koeberl D, Somers MJ, Wechsler SB, Weinstein DA, Wolfsdorf JI, Watson MS; American College of Medical Genetics and Genomics. Kishnani PS, et al. Genet Med. 2014 Nov;16(11):e1. doi: 10.1038/gim.2014.128. Genet Med. 2014. PMID: 25356975 Free article.
Targeted long-read sequencing identifies missing disease-causing variation.
Miller DE, Sulovari A, Wang T, Loucks H, Hoekzema K, Munson KM, Lewis AP, Fuerte EPA, Paschal CR, Walsh T, Thies J, Bennett JT, Glass I, Dipple KM, Patterson K, Bonkowski ES, Nelson Z, Squire A, Sikes M, Beckman E, Bennett RL, Earl D, Lee W, Allikmets R, Perlman SJ, Chow P, Hing AV, Wenger TL, Adam MP, Sun A, Lam C, Chang I, Zou X, Austin SL, Huggins E, Safi A, Iyengar AK, Reddy TE, Majoros WH, Allen AS, Crawford GE, Kishnani PS; University of Washington Center for Mendelian Genomics; King MC, Cherry T, Chong JX, Bamshad MJ, Nickerson DA, Mefford HC, Doherty D, Eichler EE. Miller DE, et al. Among authors: kishnani ps. Am J Hum Genet. 2021 Aug 5;108(8):1436-1449. doi: 10.1016/j.ajhg.2021.06.006. Epub 2021 Jul 2. Am J Hum Genet. 2021. PMID: 34216551 Free PMC article.
Glycogen Storage Disease Type I.
Bali DS, El-Gharbawy A, Austin S, Pendyal S, Kishnani PS. Bali DS, et al. Among authors: kishnani ps. 2006 Apr 19 [updated 2021 Oct 14]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2006 Apr 19 [updated 2021 Oct 14]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301489 Free Books & Documents. Review.
The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?
Weinreb NJ, Goker-Alpan O, Kishnani PS, Longo N, Burrow TA, Bernat JA, Gupta P, Henderson N, Pedro H, Prada CE, Vats D, Pathak RR, Wright E, Ficicioglu C. Weinreb NJ, et al. Among authors: kishnani ps. Mol Genet Metab. 2022 May;136(1):4-21. doi: 10.1016/j.ymgme.2022.03.001. Epub 2022 Mar 9. Mol Genet Metab. 2022. PMID: 35367141 Free article. Review.
Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.
Koch RL, Soler-Alfonso C, Kiely BT, Asai A, Smith AL, Bali DS, Kang PB, Landstrom AP, Akman HO, Burrow TA, Orthmann-Murphy JL, Goldman DS, Pendyal S, El-Gharbawy AH, Austin SL, Case LE, Schiffmann R, Hirano M, Kishnani PS. Koch RL, et al. Among authors: kishnani ps. Mol Genet Metab. 2023 Mar;138(3):107525. doi: 10.1016/j.ymgme.2023.107525. Epub 2023 Jan 25. Mol Genet Metab. 2023. PMID: 36796138 Review.
Glycogen storage disease type III diagnosis and management guidelines.
Kishnani PS, Austin SL, Arn P, Bali DS, Boney A, Case LE, Chung WK, Desai DM, El-Gharbawy A, Haller R, Smit GP, Smith AD, Hobson-Webb LD, Wechsler SB, Weinstein DA, Watson MS; ACMG. Kishnani PS, et al. Genet Med. 2010 Jul;12(7):446-63. doi: 10.1097/GIM.0b013e3181e655b6. Genet Med. 2010. PMID: 20631546 Free article.
Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial.
Diaz-Manera J, Kishnani PS, Kushlaf H, Ladha S, Mozaffar T, Straub V, Toscano A, van der Ploeg AT, Berger KI, Clemens PR, Chien YH, Day JW, Illarioshkin S, Roberts M, Attarian S, Borges JL, Bouhour F, Choi YC, Erdem-Ozdamar S, Goker-Alpan O, Kostera-Pruszczyk A, Haack KA, Hug C, Huynh-Ba O, Johnson J, Thibault N, Zhou T, Dimachkie MM, Schoser B; COMET Investigator Group. Diaz-Manera J, et al. Among authors: kishnani ps. Lancet Neurol. 2021 Dec;20(12):1012-1026. doi: 10.1016/S1474-4422(21)00241-6. Lancet Neurol. 2021. PMID: 34800399 Clinical Trial.
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ, van der Ploeg AT, Chien YH, Llerena J Jr, Abbott MA, Clemens PR, Kimonis VE, Leslie N, Maruti SS, Sanson BJ, Araujo R, Periquet M, Toscano A, Kishnani PS, On Behalf Of The Pompe Registry Sites. Reuser AJJ, et al. Among authors: kishnani ps. Hum Mutat. 2019 Nov;40(11):2146-2164. doi: 10.1002/humu.23878. Epub 2019 Aug 7. Hum Mutat. 2019. PMID: 31342611 Free PMC article.
337 results