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Acta Paediatrica (Oslo, Norway : 1992)|February 22, 2025
Endocrine Abnormalities and Growth Pattern in Single Large-Scale Mitochondrial DNA Deletion SyndromesAyman Daka, Einat Lahav, Omer Bar Yosef, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|July 21, 2015
Atypical presentation of Costeff syndrome-severe psychomotor involvement and electrical status epilepticus during slow wave sleepNirit Carmi, Dorit Lev, Esther Leshinsky-Silver, et al.
Pediatric Research|January 26, 2002
Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2Marjan Huizing, Charles D Scher, Erin Strovel, et al.
Molecular Genetics and Metabolism Reports|December 21, 2016
Cardiac failure in very long chain acyl-CoA dehydrogenase deficiency requiring extracorporeal membrane oxygenation (ECMO) treatment: A case report and review of the literatureSharon Katz, Yuval Landau, Ben Pode-Shakked, et al.
Ophthalmic Genetics|April 8, 2017
Reversal of cystoid macular edema in gyrate atrophy patientsDan Heller, Chen Weiner, Iris Nasie, et al.
Molecular Genetics and Metabolism|November 12, 2013
Man made disease: clinical manifestations of low phenylalanine levels in an inadequately treated phenylketonuria patient and mouse studyBen Pode-Shakked, Lilach Shemer-Meiri, Alon Harmelin, et al.
Glycoconjugate Journal|December 26, 2012
Murine isoforms of UDP-GlcNAc 2-epimerase/ManNAc kinase: Secondary structures, expression profiles, and response to ManNAc therapyTal Yardeni, Katherine Jacobs, Terren K Niethamer, et al.
Molecular Genetics and Metabolism Reports|November 30, 2016
Glutaric Aciduria type I and acute renal failure - Coincidence or causality?Ben Pode-Shakked, Dina Marek-Yagel, Marina Rubinshtein, et al.
Nutrients|October 23, 2021
The Effects of a Ketogenic Diet on Patients with Dihydrolipoamide Dehydrogenase DeficiencyOrna Staretz-Chacham, Ben Pode-Shakked, Eyal Kristal, et al.
Journal of Inherited Metabolic Disease|January 9, 2013
Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclatureSaskia B Wortmann, Marinus Duran, Yair Anikster, et al.
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