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Combined PMM2-CDG and hereditary fructose intolerance in a patient with mild clinical presentation.
Mol Genet Metab. 2023 Nov;140(3):107682. doi: 10.1016/j.ymgme.2023.107682. Epub 2023 Aug 9.
Mol Genet Metab. 2023.
PMID: 37597336
Correction: Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels.
Shelkowitz E, Saneto RP, Al-Hertani W, Lubout CMA, Stence NV, Brown MS, Long P, Walleigh D, Nelson JA, Perez FE, Shaw DWW, Michl EJ, Van Hove JLK.
Shelkowitz E, et al. Among authors: michl ej.
Orphanet J Rare Dis. 2023 Mar 13;18(1):54. doi: 10.1186/s13023-023-02646-0.
Orphanet J Rare Dis. 2023.
PMID: 36915141
Free PMC article.
No abstract available.
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Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels.
Shelkowitz E, Saneto RP, Al-Hertani W, Lubout CMA, Stence NV, Brown MS, Long P, Walleigh D, Nelson JA, Perez FE, Shaw DWW, Michl EJ, Van Hove JLK.
Shelkowitz E, et al. Among authors: michl ej.
Orphanet J Rare Dis. 2022 Dec 5;17(1):423. doi: 10.1186/s13023-022-02581-6.
Orphanet J Rare Dis. 2022.
PMID: 36471344
Free PMC article.
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