Rehder C - Search Results

1

The Global ALPL gene variant classification project: Dedicated to deciphering variants.

Farman MR, Rehder C, Malli T, Rockman-Greenberg C, Dahir K, Martos-Moreno GÁ, Linglart A, Ozono K, Seefried L, Del Angel G, Webersinke G, Barbazza F, John LK, Delana Mudiyanselage SMA, Högler F, Nading EB, Huggins E, Rush ET, El-Gazzar A, Kishnani PS, Högler W. Farman MR, et al. Among authors: rehder c. Bone. 2024 Jan;178:116947. doi: 10.1016/j.bone.2023.116947. Epub 2023 Oct 26. Bone. 2024. PMID: 37898381 Free article.

2

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

3

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. 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

4

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. Among authors: rehder c. 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.

5

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. Among authors: rehder c. 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

6

Blood-based diagnostic testing for Pompe disease: consistency between GAA enzyme activity in dried blood spots and GAA gene sequencing results.

Goldstein JL, Dickerson G, Kishnani PS, Rehder C, Bali DS. Goldstein JL, et al. Among authors: rehder c. Muscle Nerve. 2014 May;49(5):775-6. doi: 10.1002/mus.24149. Muscle Nerve. 2014. PMID: 24338800 No abstract available.

7

Clinical Laboratory Experience of Blood CRIM Testing in Infantile Pompe Disease.

Bali DS, Goldstein JL, Rehder C, Kazi ZB, Berrier KL, Dai J, Kishnani PS. Bali DS, et al. Among authors: rehder c. Mol Genet Metab Rep. 2015 Dec 1;5:76-79. doi: 10.1016/j.ymgmr.2015.10.012. Mol Genet Metab Rep. 2015. PMID: 26693141 Free PMC article.

8

Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report.

Mori M, Bailey LA, Estrada J, Rehder CW, Li JS, Rogers JG, Bali DS, Buckley AF, Kishnani PS. Mori M, et al. JIMD Rep. 2017;31:79-83. doi: 10.1007/8904_2016_563. Epub 2016 May 4. JIMD Rep. 2017. PMID: 27142047 Free PMC article.

9

Clinical and Molecular Variability in Patients with PHKA2 Variants and Liver Phosphorylase b Kinase Deficiency.

Bali DS, Goldstein JL, Fredrickson K, Austin S, Pendyal S, Rehder C, Kishnani PS. Bali DS, et al. Among authors: rehder c. JIMD Rep. 2017;37:63-72. doi: 10.1007/8904_2017_8. Epub 2017 Mar 12. JIMD Rep. 2017. PMID: 28283841 Free PMC article.

10

Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.

Mori M, Haskell G, Kazi Z, Zhu X, DeArmey SM, Goldstein JL, Bali D, Rehder C, Cirulli ET, Kishnani PS. Mori M, et al. Among authors: rehder c. Mol Genet Metab. 2017 Dec;122(4):189-197. doi: 10.1016/j.ymgme.2017.10.008. Epub 2017 Oct 17. Mol Genet Metab. 2017. PMID: 29122469 Free PMC article.

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