Kishnani PS - Search Results

1

Very early-onset inflammatory bowel disease: Novel description in glycogen storage disease type Ia.

Hannah WB, Ong RC, Moreno MN, Pendyal S, Abdelmalak M, Kelsen J, McGreal NM, Kishnani PS. Hannah WB, et al. Among authors: kishnani ps. Mol Genet Metab Rep. 2022 Feb 15;31:100848. doi: 10.1016/j.ymgmr.2022.100848. eCollection 2022 Jun. Mol Genet Metab Rep. 2022. PMID: 35242580 Free PMC article.

2

Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease.

Shaiu WL, Kishnani PS, Shen J, Liu HM, Chen YT. Shaiu WL, et al. Among authors: kishnani ps. Mol Genet Metab. 2000 Jan;69(1):16-23. doi: 10.1006/mgme.1999.2953. Mol Genet Metab. 2000. PMID: 10655153

3

Chromosomal and genetic alterations in human hepatocellular adenomas associated with type Ia glycogen storage disease.

Kishnani PS, Chuang TP, Bali D, Koeberl D, Austin S, Weinstein DA, Murphy E, Chen YT, Boyette K, Liu CH, Chen YT, Li LH. Kishnani PS, et al. Hum Mol Genet. 2009 Dec 15;18(24):4781-90. doi: 10.1093/hmg/ddp441. Epub 2009 Sep 16. Hum Mol Genet. 2009. PMID: 19762333

4

Hypovitaminosis D in glycogen storage disease type I.

Banugaria SG, Austin SL, Boney A, Weber TJ, Kishnani PS. Banugaria SG, et al. Among authors: kishnani ps. Mol Genet Metab. 2010 Apr;99(4):434-7. doi: 10.1016/j.ymgme.2009.12.012. Epub 2009 Dec 21. Mol Genet Metab. 2010. PMID: 20060350

5

Expanding the clinical spectrum of late-onset Pompe disease: dilated arteriopathy involving the thoracic aorta, a novel vascular phenotype uncovered.

El-Gharbawy AH, Bhat G, Murillo JE, Thurberg BL, Kampmann C, Mengel KE, Kishnani PS. El-Gharbawy AH, et al. Among authors: kishnani ps. Mol Genet Metab. 2011 Aug;103(4):362-6. doi: 10.1016/j.ymgme.2011.04.009. Epub 2011 May 5. Mol Genet Metab. 2011. PMID: 21605996

6

Early cognitive development in children with infantile Pompe disease.

Spiridigliozzi GA, Heller JH, Case LE, Jones HN, Kishnani PS. Spiridigliozzi GA, et al. Among authors: kishnani ps. Mol Genet Metab. 2012 Mar;105(3):428-32. doi: 10.1016/j.ymgme.2011.10.012. Epub 2011 Oct 28. Mol Genet Metab. 2012. PMID: 22217428 Clinical Trial.

7

The impact of antibodies in late-onset Pompe disease: a case series and literature review.

Patel TT, Banugaria SG, Case LE, Wenninger S, Schoser B, Kishnani PS. Patel TT, et al. Among authors: kishnani ps. Mol Genet Metab. 2012 Jul;106(3):301-9. doi: 10.1016/j.ymgme.2012.04.027. Epub 2012 May 9. Mol Genet Metab. 2012. PMID: 22613277

8

Autopsy findings in late-onset Pompe disease: a case report and systematic review of the literature.

Hobson-Webb LD, Proia AD, Thurberg BL, Banugaria S, Prater SN, Kishnani PS. Hobson-Webb LD, et al. Among authors: kishnani ps. Mol Genet Metab. 2012 Aug;106(4):462-9. doi: 10.1016/j.ymgme.2012.05.007. Epub 2012 May 18. Mol Genet Metab. 2012. PMID: 22664150 Review.

9

Bulbar muscle weakness and fatty lingual infiltration in glycogen storage disorder type IIIa.

Horvath JJ, Austin SL, Jones HN, Drake EJ, Case LE, Soher BJ, Bashir MR, Kishnani PS. Horvath JJ, et al. Among authors: kishnani ps. Mol Genet Metab. 2012 Nov;107(3):496-500. doi: 10.1016/j.ymgme.2012.09.025. Epub 2012 Sep 28. Mol Genet Metab. 2012. PMID: 23062577

10

Low anal sphincter tone in infantile-onset Pompe Disease: an emerging clinical issue in enzyme replacement therapy patients requiring special attention.

Tan QK, Cheah SM, Dearmey SM, Kishnani PS. Tan QK, et al. Among authors: kishnani ps. Mol Genet Metab. 2013 Feb;108(2):142-4. doi: 10.1016/j.ymgme.2012.11.013. Epub 2012 Nov 29. Mol Genet Metab. 2013. PMID: 23266370

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