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Journal of Medical Genetics|November 13, 2015
Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutationRonen Spiegel, Ann Saada, Padraig J Flannery, et al.Journal of Inherited Metabolic Disease|January 29, 2019
Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndromeRajech Sharkia, Klaas J Wierenga, Amit Kessel, et al.Human Genomics|February 28, 2025
Sengers syndrome caused by biallelic TIMM29 variants and RNAi silencing in Drosophila orthologue recapitulates the human phenotypeAdel Shalata, Ann Saada, Mohammed Mahroum, et al.Molecular Genetics and Metabolism|January 26, 2024
Treatment recommendations for glycogen storage disease type IB- associated neutropenia and neutrophil dysfunction with empagliflozin: Consensus from an international workshopSarah C Grünert, Terry G J Derks, Helen Mundy, et al.Orphanet Journal of Rare Diseases|March 19, 2025
Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndromeOdelia Chorin, Lior Greenbaum, Shelly Lev-Hochberg, et al.Orphanet Journal of Rare Diseases|January 13, 2012
Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VIAndrea Poretti, Giuseppina Vitiello, Raoul C M Hennekam, et al.Frontiers in Genetics|March 31, 2023
Hereditary orotic aciduria identified by newborn screeningOrna Staretz-Chacham, Nadirah S Damseh, Suha Daas, et al.Journal of Inherited Metabolic Disease|October 19, 2014
TMEM70 deficiency: long-term outcome of 48 patientsMartin Magner, Veronika Dvorakova, Marketa Tesarova, et al.Nature Genetics|August 27, 2013
Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wastingLiat Samuelov, Ofer Sarig, Robert M Harmon, et al.Molecular Genetics and Metabolism|May 11, 2024
Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1bSarah C Grünert, Matthias Gautschi, Joshua Baker, et al.Pageof 11