Austin S - Search Results

1

Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency.

Achouitar S, Goldstein JL, Mohamed M, Austin S, Boyette K, Blanpain FM, Rehder CW, Kishnani PS, Wortmann SB, den Heijer M, Lefeber DJ, Wevers RA, Bali DS, Morava E. Achouitar S, et al. Among authors: austin s. Mol Genet Metab. 2011 Dec;104(4):691-4. doi: 10.1016/j.ymgme.2011.08.021. Epub 2011 Aug 26. Mol Genet Metab. 2011. PMID: 21911307

2

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. Among authors: austin s. 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

3

Hypovitaminosis D in glycogen storage disease type I.

Banugaria SG, Austin SL, Boney A, Weber TJ, Kishnani PS. Banugaria SG, et al. Among authors: austin sl. 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

4

The electrodiagnostic characteristics of Glycogen Storage Disease Type III.

Hobson-Webb LD, Austin SL, Bali DS, Kishnani PS. Hobson-Webb LD, et al. Among authors: austin sl. Genet Med. 2010 Jul;12(7):440-5. doi: 10.1097/GIM.0b013e3181cd735b. Genet Med. 2010. PMID: 20071996 Free article.

5

Echocardiographic manifestations of Glycogen Storage Disease III: increase in wall thickness and left ventricular mass over time.

Vertilus SM, Austin SL, Foster KS, Boyette KE, Bali DS, Li JS, Kishnani PS, Wechsler SB. Vertilus SM, et al. Among authors: austin sl. Genet Med. 2010 Jul;12(7):413-23. doi: 10.1097/GIM.0b013e3181e0e979. Genet Med. 2010. PMID: 20526204 Free PMC article.

6

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. Among authors: austin sl. Genet Med. 2010 Jul;12(7):446-63. doi: 10.1097/GIM.0b013e3181e655b6. Genet Med. 2010. PMID: 20631546 Free article.

7

Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III.

Goldstein JL, Austin SL, Boyette K, Kanaly A, Veerapandiyan A, Rehder C, Kishnani PS, Bali DS. Goldstein JL, et al. Among authors: austin sl. Genet Med. 2010 Jul;12(7):424-30. doi: 10.1097/GIM.0b013e3181d94eaa. Genet Med. 2010. PMID: 20648714 Free article.

8

Characterization and pathogenesis of anemia in glycogen storage disease type Ia and Ib.

Wang DQ, Carreras CT, Fiske LM, Austin S, Boree D, Kishnani PS, Weinstein DA. Wang DQ, et al. Among authors: austin s. Genet Med. 2012 Sep;14(9):795-9. doi: 10.1038/gim.2012.41. Epub 2012 Jun 7. Genet Med. 2012. PMID: 22678084 Free PMC article.

9

Characterization of a canine model of glycogen storage disease type IIIa.

Yi H, Thurberg BL, Curtis S, Austin S, Fyfe J, Koeberl DD, Kishnani PS, Sun B. Yi H, et al. Among authors: austin s. Dis Model Mech. 2012 Nov;5(6):804-11. doi: 10.1242/dmm.009712. Epub 2012 Jun 26. Dis Model Mech. 2012. PMID: 22736456 Free PMC article.

10

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: austin sl. 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

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