Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy C Viscomi, AB Burlina, I Dweikat, M Savoiardo, C Lamperti, T Hildebrandt, ... Nature medicine 16 (8), 869-871, 2010 | 167 | 2010 |
Glutaric aciduria type 1: clinical, biochemical and molecular findings in patients from Israel SH Korman, C Jakobs, PS Darmin, A Gutman, MS van der Knaap, ... European Journal of Paediatric Neurology 11 (2), 81-89, 2007 | 53 | 2007 |
Propionic acidemia mimicking diabetic ketoacidosis IM Dweikat, EN Naser, AIA Libdeh, OJ Naser, NNA Gharbieh, NF Maraqa, ... Brain and Development 33 (5), 428-431, 2011 | 31 | 2011 |
Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy Y Langer, A Aran, S Gulsuner, BA Libdeh, P Renbaum, D Brunetti, ... Journal of Medical Genetics 55 (9), 599-606, 2018 | 30 | 2018 |
A novel SLC25A20 splicing mutation in patients of different ethnic origin with neonatally lethal carnitine-acylcarnitine translocase (CACT) deficiency SH Korman, JJ Pitt, A Boneh, I Dweikat, M Zater, V Meiner, A Gutman, ... Molecular genetics and metabolism 89 (4), 332-338, 2006 | 26 | 2006 |
Ethylmalonic encephalopathy associated with crescentic glomerulonephritis I Dweikat, E Naser, N Damsah, BA Libdeh, I Bakri Metabolic brain disease 27, 613-616, 2012 | 19 | 2012 |
Tricho‐hepato‐enteric syndrome: A case of hemochromatosis with intractable diarrhea, dysmorphic features, and hair abnormality I Dweikat, M Sultan, N Maraqa, T Hindi, S Abu‐Rmeileh, B Abu‐Libdeh American Journal of Medical Genetics Part A 143 (6), 581-583, 2007 | 18 | 2007 |
Gm1 gangliosidosis associated with neonatal-onset of diffuse ecchymoses and mongolian spots I Dweikat, BA Libdeh, H Murrar, S Khalil, N Maraqa Indian journal of dermatology 56 (1), 98-100, 2011 | 16 | 2011 |
Fanconi-Bickel syndrome in two Palestinian children: marked phenotypic variability with identical mutation IM Dweikat, IS Alawneh, SF Bahar, MI Sultan BMC Research Notes 9, 1-5, 2016 | 15 | 2016 |
MEGDEL Syndrome in a Child From Palestine: Report of a Novel Mutation in SERAC1 Gene IM Dweikat, S Abdelrazeq, S Ayesh, T Jundi Journal of Child Neurology 30 (8), 1053-1056, 2015 | 15 | 2015 |
Severe persistent unremitting dermatitis, chronic diarrhea and hypoalbuminemia in a child; Hartnup disease in setting of celiac disease T Ciecierega, I Dweikat, M Awar, M Shahrour, BA Libdeh, M Sultan BMC pediatrics 14, 1-3, 2014 | 10 | 2014 |
Clinical heterogeneity of glycine encephalopathy in three Palestinian siblings: A novel mutation in the glycine decarboxylase (GLDC) gene W Khraim, B Abu-Libdeh, S Ayesh, I Dweikat Brain and Development 39 (7), 601-605, 2017 | 8 | 2017 |
PNC2 (SLC25A36) Deficiency Associated With the Hyperinsulinism/Hyperammonemia Syndrome MA Shahroor, FM Lasorsa, V Porcelli, I Dweikat, MA Di Noia, M Gur, ... The Journal of Clinical Endocrinology & Metabolism 107 (5), 1346-1356, 2022 | 6 | 2022 |
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission J Fasham, AK Huebner, L Liebmann, R Khalaf-Nazzal, R Maroofian, ... Brain 146 (11), 4547-4561, 2023 | 5 | 2023 |
Clinical heterogeneity of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome in thirteen palestinian patients and report of a novel variant in the SLC25A15 gene I Dweikat, R Khalaf-Nazzal Frontiers in Genetics 13, 1004598, 2022 | 4 | 2022 |
Prevalent MLC1 mutation causing autosomal recessive megalencephalic leukoencephalopathy in consanguineous Palestinian families R Khalaf-Nazzal, I Dweikat, M Maree, M Alawneh, M Barahmeh, ... Brain and Development 44 (7), 454-461, 2022 | 3 | 2022 |
Niemann–Pick disease type C in Palestine: genotype and phenotype of sixteen patients and report of a novel mutation in the NPC1 gene I Dweikat, O Thaher, A Abosleem, A Zeer, AA Mokh BMC Medical Genomics 14, 1-8, 2021 | 3 | 2021 |
Phenotype, genotype, and outcome of 25 Palestinian patients with hereditary tyrosinemia type 1 I Dweikat, N Qawasmi, A Najeeb, M Radwan Metabolism Open 9, 100083, 2021 | 3 | 2021 |
Late onset hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome, presenting as recurrent metabolic encephalopathy, A case report FMA Sarhan, AWM Jobran, A Fayyad, Z Ghanim, I Dweikat, S Elewie, ... Annals of Medicine and Surgery 84, 2022 | 1 | 2022 |
Genotype and clinical phenotype in four patients with glutathione synthetase deficiency F Alqarajeh, SA Abukhalaf, JO Omorodion, IM Dweikat Meta Gene 25, 100751, 2020 | 1 | 2020 |