Goldstein JL - 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: goldstein jl. 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

Screening for Pompe disease using a rapid dried blood spot method: experience of a clinical diagnostic laboratory.

Goldstein JL, Young SP, Changela M, Dickerson GH, Zhang H, Dai J, Peterson D, Millington DS, Kishnani PS, Bali DS. Goldstein JL, et al. Muscle Nerve. 2009 Jul;40(1):32-6. doi: 10.1002/mus.21376. Muscle Nerve. 2009. PMID: 19533645

3

Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder.

Li SC, Chen CM, Goldstein JL, Wu JY, Lemyre E, Burrow TA, Kang PB, Chen YT, Bali DS. Li SC, et al. Among authors: goldstein jl. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S83-90. doi: 10.1007/s10545-009-9026-5. Epub 2010 Jan 8. J Inherit Metab Dis. 2010. PMID: 20058079

4

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.

5

Molecular analysis and protein processing in late-onset Pompe disease patients with low levels of acid α-glucosidase activity.

Bali DS, Tolun AA, Goldstein JL, Dai J, Kishnani PS. Bali DS, et al. Among authors: goldstein jl. Muscle Nerve. 2011 May;43(5):665-70. doi: 10.1002/mus.21933. Muscle Nerve. 2011. PMID: 21484825

6

Glycogen storage disease type IX: novel PHKA2 missense mutation and cirrhosis.

Johnson AO, Goldstein JL, Bali D. Johnson AO, et al. Among authors: goldstein jl. J Pediatr Gastroenterol Nutr. 2012 Jul;55(1):90-2. doi: 10.1097/MPG.0b013e31823276ea. J Pediatr Gastroenterol Nutr. 2012. PMID: 21857251 No abstract available.

7

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: goldstein jl. 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.

8

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: goldstein jl. 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

9

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. Muscle Nerve. 2014 May;49(5):775-6. doi: 10.1002/mus.24149. Muscle Nerve. 2014. PMID: 24338800 No abstract available.

10

Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.

Bali DS, Goldstein JL, Fredrickson K, Rehder C, Boney A, Austin S, Weinstein DA, Lutz R, Boneh A, Kishnani PS. Bali DS, et al. Among authors: goldstein jl. Mol Genet Metab. 2014 Mar;111(3):309-313. doi: 10.1016/j.ymgme.2013.12.008. Epub 2013 Dec 19. Mol Genet Metab. 2014. PMID: 24389071 Free PMC article.

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