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The Effects of a Ketogenic Diet on Patients with Dihydrolipoamide Dehydrogenase Deficiency.
Nutrients. 2021 Oct 7;13(10):3523. doi: 10.3390/nu13103523.
Nutrients. 2021.
PMID: 34684524
Free PMC article.
Clues and challenges in the diagnosis of intermittent maple syrup urine disease.
Pode-Shakked N, Korman SH, Pode-Shakked B, Landau Y, Kneller K, Abraham S, Shaag A, Ulanovsky I, Daas S, Saraf-Levy T, Reznik-Wolf H, Vivante A, Pras E, Almashanu S, Anikster Y.
Pode-Shakked N, et al.
Eur J Med Genet. 2020 Jun;63(6):103901. doi: 10.1016/j.ejmg.2020.103901. Epub 2020 Mar 6.
Eur J Med Genet. 2020.
PMID: 32151765
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Man made disease: clinical manifestations of low phenylalanine levels in an inadequately treated phenylketonuria patient and mouse study.
Pode-Shakked B, Shemer-Meiri L, Harmelin A, Stettner N, Brenner O, Abraham S, Schwartz G, Anikster Y.
Pode-Shakked B, et al.
Mol Genet Metab. 2013;110 Suppl:S66-70. doi: 10.1016/j.ymgme.2013.10.006. Epub 2013 Oct 12.
Mol Genet Metab. 2013.
PMID: 24206931
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Glycogen Storage Disease type IA refractory to cornstarch: Can next generation sequencing offer a solution?
Steg Saban O, Pode-Shakked B, Abu-Libdeh B, Granot M, Barkai G, Haberman Y, Roterman I, Lahad A, Shouval DS, Weiss B, Marek-Yagel D, Barel O, Loberman-Nachum N, Abraham S, Somech R, Weinstein DA, Anikster Y.
Steg Saban O, et al.
Eur J Med Genet. 2022 Jun;65(6):104518. doi: 10.1016/j.ejmg.2022.104518. Epub 2022 May 9.
Eur J Med Genet. 2022.
PMID: 35550444
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Peak bone mass in patients with phenylketonuria.
Modan-Moses D, Vered I, Schwartz G, Anikster Y, Abraham S, Segev R, Efrati O.
Modan-Moses D, et al.
J Inherit Metab Dis. 2007 Apr;30(2):202-8. doi: 10.1007/s10545-007-0462-9. Epub 2007 Mar 8.
J Inherit Metab Dis. 2007.
PMID: 17347917
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