Goldstein J - Search Results

1

Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study.

Khaikin Y, Sidky S, Abdenur J, Anastasi A, Ballhausen D, Buoni S, Chan A, Cheillan D, Dorison N, Goldenberg A, Goldstein J, Hofstede FC, Jacquemont ML, Koeberl DD, Lion-Francois L, Lund AM, Mention K, Mundy H, O'Rourke D, Pitelet G, Raspall-Chaure M, Tassini M, Billette de Villemeur T, Williams M, Salomons GS, Mercimek-Andrews S. Khaikin Y, et al. Among authors: goldstein j. Eur J Paediatr Neurol. 2018 May;22(3):369-379. doi: 10.1016/j.ejpn.2018.02.007. Epub 2018 Feb 16. Eur J Paediatr Neurol. 2018. PMID: 29506905

2

Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency.

El-Gharbawy AH, Goldstein JL, Millington DS, Vaisnins AE, Schlune A, Barshop BA, Schulze A, Koeberl DD, Young SP. El-Gharbawy AH, et al. Mol Genet Metab. 2013 Jun;109(2):215-7. doi: 10.1016/j.ymgme.2013.03.003. Epub 2013 Mar 16. Mol Genet Metab. 2013. PMID: 23583224

3

Complex III deficiency due to an in-frame MT-CYB deletion presenting as ketotic hypoglycemia and lactic acidosis.

Mori M, Goldstein J, Young SP, Bossen EH, Shoffner J, Koeberl DD. Mori M, et al. Among authors: goldstein j. Mol Genet Metab Rep. 2015 Jun 30;4:39-41. doi: 10.1016/j.ymgmr.2015.06.001. eCollection 2015 Sep. Mol Genet Metab Rep. 2015. PMID: 26937408 Free PMC article.

4

Treatment outcome of creatine transporter deficiency: international retrospective cohort study.

Bruun TUJ, Sidky S, Bandeira AO, Debray FG, Ficicioglu C, Goldstein J, Joost K, Koeberl DD, Luísa D, Nassogne MC, O'Sullivan S, Õunap K, Schulze A, van Maldergem L, Salomons GS, Mercimek-Andrews S. Bruun TUJ, et al. Among authors: goldstein j. Metab Brain Dis. 2018 Jun;33(3):875-884. doi: 10.1007/s11011-018-0197-3. Epub 2018 Feb 12. Metab Brain Dis. 2018. PMID: 29435807

5

ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes.

Goldstein J, Thomas-Wilson A, Groopman E, Aggarwal V, Bianconi S, Fernandez R, Hart K, Longo N, Liang N, Reich D, Wallis H, Weaver M, Young S, Mercimek-Andrews S. Goldstein J, et al. Mol Genet Metab. 2024 May;142(1):108362. doi: 10.1016/j.ymgme.2024.108362. Epub 2024 Mar 2. Mol Genet Metab. 2024. PMID: 38452609 Free PMC article.

6

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.

7

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

8

Epigenetic dysregulation of SHANK3 in brain tissues from individuals with autism spectrum disorders.

Zhu L, Wang X, Li XL, Towers A, Cao X, Wang P, Bowman R, Yang H, Goldstein J, Li YJ, Jiang YH. Zhu L, et al. Among authors: goldstein j. Hum Mol Genet. 2014 Mar 15;23(6):1563-78. doi: 10.1093/hmg/ddt547. Epub 2013 Nov 1. Hum Mol Genet. 2014. PMID: 24186872 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. 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

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. 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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