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Natural history of propionic acidemia in the Amish population.
Ehrenberg S, Walsh Vockley C, Heiman P, Ammous Z, Wenger O, Vockley J, Ghaloul-Gonzalez L. Ehrenberg S, et al. Among authors: ghaloul gonzalez l. Mol Genet Metab Rep. 2022 Nov 5;33:100936. doi: 10.1016/j.ymgmr.2022.100936. eCollection 2022 Dec. Mol Genet Metab Rep. 2022. PMID: 36393899 Free PMC article.
Mitochondrial respiratory chain disorders in the Old Order Amish population.
Ghaloul-Gonzalez L, Goldstein A, Walsh Vockley C, Dobrowolski SF, Biery A, Irani A, Ibarra J, Morton DH, Mohsen AW, Vockley J. Ghaloul-Gonzalez L, et al. Mol Genet Metab. 2016 Aug;118(4):296-303. doi: 10.1016/j.ymgme.2016.06.005. Epub 2016 Jun 16. Mol Genet Metab. 2016. PMID: 27344355
Mitochondrial dysfunction associated with TANGO2 deficiency.
Heiman P, Mohsen AW, Karunanidhi A, St Croix C, Watkins S, Koppes E, Haas R, Vockley J, Ghaloul-Gonzalez L. Heiman P, et al. Among authors: ghaloul gonzalez l. Sci Rep. 2022 Feb 23;12(1):3045. doi: 10.1038/s41598-022-07076-9. Sci Rep. 2022. PMID: 35197517 Free PMC article.
ITCH deficiency clinical phenotype expansion and mitochondrial dysfunction.
Wolfe R, Heiman P, D'Annibale O, Karunanidhi A, Powers A, Mcguire M, Seminotti B, Dobrowolski SF, Reyes-Múgica M, Torok KS, Mohsen AW, Vockley J, Ghaloul-Gonzalez L. Wolfe R, et al. Among authors: ghaloul gonzalez l. Mol Genet Metab Rep. 2022 Oct 29;33:100932. doi: 10.1016/j.ymgmr.2022.100932. eCollection 2022 Dec. Mol Genet Metab Rep. 2022. PMID: 36338154 Free PMC article.
A familial case of CAMK2B mutation with variable expressivity.
Heiman P, Drewes S, Ghaloul-Gonzalez L. Heiman P, et al. SAGE Open Med Case Rep. 2021 Feb 1;9:2050313X21990982. doi: 10.1177/2050313X21990982. eCollection 2021. SAGE Open Med Case Rep. 2021. PMID: 33796307 Free PMC article.
Development and characterization of a mouse model for Acad9 deficiency.
Sinsheimer A, Mohsen AW, Bloom K, Karunanidhi A, Bharathi S, Wu YL, Schiff M, Wang Y, Goetzman ES, Ghaloul-Gonzalez L, Vockley J. Sinsheimer A, et al. Mol Genet Metab. 2021 Sep-Oct;134(1-2):156-163. doi: 10.1016/j.ymgme.2021.09.002. Epub 2021 Sep 14. Mol Genet Metab. 2021. PMID: 34556413 Free PMC article.
27 results