Rehder CW - Search Results

1

A Voluntary Statewide Newborn Screening Pilot for Spinal Muscular Atrophy: Results from Early Check.

Kucera KS, Taylor JL, Robles VR, Clinard K, Migliore B, Boyea BL, Okoniewski KC, Duparc M, Rehder CW, Shone SM, Fan Z, Raspa M, Peay HL, Wheeler AC, Powell CM, Bailey DB Jr, Gehtland LM. Kucera KS, et al. Among authors: rehder cw. Int J Neonatal Screen. 2021 Mar 21;7(1):20. doi: 10.3390/ijns7010020. Int J Neonatal Screen. 2021. PMID: 33801060 Free PMC article.

2

The North Carolina Experience with Mucopolysaccharidosis Type I Newborn Screening.

Taylor JL, Clinard K, Powell CM, Rehder C, Young SP, Bali D, Beckloff SE, Gehtland LM, Kemper AR, Lee S, Millington D, Patel HS, Shone SM, Woodell C, Zimmerman SJ, Bailey DB Jr, Muenzer J. Taylor JL, et al. J Pediatr. 2019 Aug;211:193-200.e2. doi: 10.1016/j.jpeds.2019.04.027. Epub 2019 May 24. J Pediatr. 2019. PMID: 31133280

3

Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North Carolina.

Lee S, Clinard K, Young SP, Rehder CW, Fan Z, Calikoglu AS, Bali DS, Bailey DB Jr, Gehtland LM, Millington DS, Patel HS, Beckloff SE, Zimmerman SJ, Powell CM, Taylor JL. Lee S, et al. Among authors: rehder cw. JAMA Netw Open. 2020 Jan 3;3(1):e1920356. doi: 10.1001/jamanetworkopen.2019.20356. JAMA Netw Open. 2020. PMID: 32003821 Free PMC article.

4

Evaluation of the GSP Creatine Kinase-MM Assay and Assessment of CK-MM Stability in Newborn, Patient, and Contrived Dried Blood Spots for Newborn Screening for Duchenne Muscular Dystrophy.

Migliore BA, Zhou L, Duparc M, Robles VR, Rehder CW, Peay HL, Kucera KS. Migliore BA, et al. Among authors: rehder cw. Int J Neonatal Screen. 2022 Jan 28;8(1):12. doi: 10.3390/ijns8010012. Int J Neonatal Screen. 2022. PMID: 35225934 Free PMC article.

5

Two years of newborn screening for Duchenne muscular dystrophy as a part of the statewide Early Check research program in North Carolina.

Kucera KS, Boyea BL, Migliore B, Potter SN, Robles VR, Kutsa O, Cope H, Okoniewski KC, Wheeler A, Rehder CW, Smith EC, Peay HL. Kucera KS, et al. Among authors: rehder cw. Genet Med. 2024 Jan;26(1):101009. doi: 10.1016/j.gim.2023.101009. Epub 2023 Oct 17. Genet Med. 2024. PMID: 37864479 Free article.

6

Development of a clinically validated in vitro functional assay to assess pathogenicity of novel GAA variants in patients with Pompe disease identified via newborn screening.

Goomber S, Huggins E, Rehder CW, Cohen JL, Bali DS, Kishnani PS. Goomber S, et al. Among authors: rehder cw. Front Genet. 2022 Sep 30;13:1001154. doi: 10.3389/fgene.2022.1001154. eCollection 2022. Front Genet. 2022. PMID: 36246652 Free PMC article.

7

Algorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile pompe disease: a step towards improving the efficacy of ERT.

Banugaria SG, Prater SN, Patel TT, Dearmey SM, Milleson C, Sheets KB, Bali DS, Rehder CW, Raiman JA, Wang RA, Labarthe F, Charrow J, Harmatz P, Chakraborty P, Rosenberg AS, Kishnani PS. Banugaria SG, et al. Among authors: rehder cw. PLoS One. 2013 Jun 25;8(6):e67052. doi: 10.1371/journal.pone.0067052. Print 2013. PLoS One. 2013. PMID: 23825616 Free PMC article.

8

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. Genet Med. 2010 Jul;12(7):424-30. doi: 10.1097/GIM.0b013e3181d94eaa. Genet Med. 2010. PMID: 20648714 Free article.

9

Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience.

Bali DS, Goldstein JL, Banugaria S, Dai J, Mackey J, Rehder C, Kishnani PS. Bali DS, et al. Am J Med Genet C Semin Med Genet. 2012 Feb 15;160C(1):40-9. doi: 10.1002/ajmg.c.31319. Epub 2012 Jan 17. Am J Med Genet C Semin Med Genet. 2012. PMID: 22252923 Free PMC article.

10

Assessing disease severity in Pompe disease: the roles of a urinary glucose tetrasaccharide biomarker and imaging techniques.

Young SP, Piraud M, Goldstein JL, Zhang H, Rehder C, Laforet P, Kishnani PS, Millington DS, Bashir MR, Bali DS. Young SP, et al. Am J Med Genet C Semin Med Genet. 2012 Feb 15;160C(1):50-8. doi: 10.1002/ajmg.c.31320. Epub 2012 Jan 17. Am J Med Genet C Semin Med Genet. 2012. PMID: 22252961

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