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Year Number of Results
2014 2
2015 2
2016 2
2017 2
2018 2
2019 5
2020 1
2021 4
2022 7
2023 3
2024 2

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27 results

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Page 1
B-complex vitamins for patients with TANGO2-deficiency disorder.
Sandkuhler SE, Zhang L, Meisner JK, Ghaloul-Gonzalez L, Beach CM, Harris D, de Lonlay P, Lalani SR, Miyake CY, Mackenzie SJ. Sandkuhler SE, et al. Among authors: ghaloul gonzalez l. J Inherit Metab Dis. 2023 Mar;46(2):161-162. doi: 10.1002/jimd.12585. Epub 2022 Dec 30. J Inherit Metab Dis. 2023. PMID: 36550018 Free PMC article. No abstract available.
Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients.
Miyake CY, Lay EJ, Soler-Alfonso C, Glinton KE, Houck KM, Tosur M, Moran NE, Stephens SB, Scaglia F, Howard TS, Kim JJ, Pham TD, Valdes SO, Li N, Murali CN, Zhang L, Kava M, Yim D, Beach C, Webster G, Liberman L, Janson CM, Kannankeril PJ, Baxter S, Singer-Berk M, Wood J, Mackenzie SJ, Sacher M, Ghaloul-Gonzalez L, Pedroza C, Morris SA, Ehsan SA, Azamian MS, Lalani SR. Miyake CY, et al. Among authors: ghaloul gonzalez l. Genet Med. 2023 Apr;25(4):100352. doi: 10.1016/j.gim.2022.11.020. Epub 2022 Dec 5. Genet Med. 2023. PMID: 36473599 Free PMC article. Review.
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.
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.
Cerebrospinal fluid amino acids glycine, serine, and threonine in nonketotic hyperglycinemia.
Swanson MA, Miller K, Young SP, Tong S, Ghaloul-Gonzalez L, Neira-Fresneda J, Schlichting L, Peck C, Gabel L, Friederich MW, Van Hove JLK. Swanson MA, et al. Among authors: ghaloul gonzalez l. J Inherit Metab Dis. 2022 Jul;45(4):734-747. doi: 10.1002/jimd.12500. Epub 2022 Apr 6. J Inherit Metab Dis. 2022. PMID: 35357708 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. Among authors: ghaloul gonzalez l. 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.
A porcine model of phenylketonuria generated by CRISPR/Cas9 genome editing.
Koppes EA, Redel BK, Johnson MA, Skvorak KJ, Ghaloul-Gonzalez L, Yates ME, Lewis DW, Gollin SM, Wu YL, Christ SE, Yerle M, Leshinski A, Spate LD, Benne JA, Murphy SL, Samuel MS, Walters EM, Hansen SA, Wells KD, Lichter-Konecki U, Wagner RA, Newsome JT, Dobrowolski SF, Vockley J, Prather RS, Nicholls RD. Koppes EA, et al. Among authors: ghaloul gonzalez l. JCI Insight. 2020 Oct 15;5(20):e141523. doi: 10.1172/jci.insight.141523. JCI Insight. 2020. PMID: 33055427 Free PMC article.
A familial case of CAMK2B mutation with variable expressivity.
Heiman P, Drewes S, Ghaloul-Gonzalez L. Heiman P, et al. Among authors: ghaloul gonzalez l. 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.
27 results