Hannah WB - 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. 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

Life-threatening presentations of propionic acidemia due to the Amish PCCB founder variant.

Hannah WB, Dempsey KJ, Schillaci LP, Zacharias M, McCandless SE, Wynshaw-Boris A, Konczal LL, Bedoyan JK. Hannah WB, et al. Mol Genet Metab Rep. 2019 Nov 6;21:100537. doi: 10.1016/j.ymgmr.2019.100537. eCollection 2019 Dec. Mol Genet Metab Rep. 2019. PMID: 31844627 Free PMC article.

3

Adenotonsillectomy should be avoided whenever possible in infantile-onset Pompe disease.

Jones HN, Fernandes S, Hannah WB, Kansagra S, Raynor EM, Kishnani PS. Jones HN, et al. Among authors: hannah wb. Mol Genet Metab Rep. 2020 Feb 15;23:100574. doi: 10.1016/j.ymgmr.2020.100574. eCollection 2020 Jun. Mol Genet Metab Rep. 2020. PMID: 32090020 Free PMC article. No abstract available.

4

Clinical insights from Wolman disease: Evaluating infantile hepatosplenomegaly.

Hannah WB, Ryan K, Pendyal S, Burrow TA, Harley SE, Cordell M, McCall CM, Mavis AM, Tan QK, Kishnani PS. Hannah WB, et al. Am J Med Genet A. 2022 Nov;188(11):3364-3368. doi: 10.1002/ajmg.a.62923. Epub 2022 Aug 16. Am J Med Genet A. 2022. PMID: 35972026

5

Glycogen storage diseases.

Hannah WB, Derks TGJ, Drumm ML, Grünert SC, Kishnani PS, Vissing J. Hannah WB, et al. 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.

6

Screening data from 19 patients with late-onset Pompe disease for a phase I clinical trial of AAV8 vector-mediated gene therapy.

Hannah WB, Case LE, Smith EC, Walters C, Bali D, Kishnani PS, Koeberl DD. Hannah WB, et al. JIMD Rep. 2023 Aug 17;64(5):393-400. doi: 10.1002/jmd2.12391. eCollection 2023 Sep. JIMD Rep. 2023. PMID: 37701327 Free PMC article.

7

A novel cause of emergent hyperammonemia: Cryptococcal fungemia and meningitis.

Hannah WB, Nizialek G, Dempsey KJ, Armitage KB, McCandless SE, Konczal LL. Hannah WB, et al. Mol Genet Metab Rep. 2021 Nov 25;29:100825. doi: 10.1016/j.ymgmr.2021.100825. eCollection 2021 Dec. Mol Genet Metab Rep. 2021. PMID: 34900596 Free PMC article.

8

The expanding phenotype of OFD1-related disorders: Hemizygous loss-of-function variants in three patients with primary ciliary dyskinesia.

Hannah WB, DeBrosse S, Kinghorn B, Strausbaugh S, Aitken ML, Rosenfeld M, Wolf WE, Knowles MR, Zariwala MA. Hannah WB, et al. Mol Genet Genomic Med. 2019 Sep;7(9):e911. doi: 10.1002/mgg3.911. Epub 2019 Aug 1. Mol Genet Genomic Med. 2019. PMID: 31373179 Free PMC article. Review.

9

Genetic modifiers of liver disease in cystic fibrosis.

Bartlett JR, Friedman KJ, Ling SC, Pace RG, Bell SC, Bourke B, Castaldo G, Castellani C, Cipolli M, Colombo C, Colombo JL, Debray D, Fernandez A, Lacaille F, Macek M Jr, Rowland M, Salvatore F, Taylor CJ, Wainwright C, Wilschanski M, Zemková D, Hannah WB, Phillips MJ, Corey M, Zielenski J, Dorfman R, Wang Y, Zou F, Silverman LM, Drumm ML, Wright FA, Lange EM, Durie PR, Knowles MR; Gene Modifier Study Group. Bartlett JR, et al. Among authors: hannah wb. JAMA. 2009 Sep 9;302(10):1076-83. doi: 10.1001/jama.2009.1295. JAMA. 2009. PMID: 19738092 Free PMC article.

10

Rapid Advances in Primary Ciliary Dyskinesia Research. A Brief Update for Pulmonologists.

Khalid F, Hannah WB, Gaston BM. Khalid F, et al. Among authors: hannah wb. Am J Respir Crit Care Med. 2019 Jan 15;199(2):136-138. doi: 10.1164/rccm.201807-1390ED. Am J Respir Crit Care Med. 2019. PMID: 30110178 No abstract available.

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