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2022 |
Clinical heterogeneity of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome in thirteen palestinian patients and report of a novel variant in the SLC25A15 gene |
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2022 |
Late onset hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome, presenting as recurrent metabolic encephalopathy, A case report |
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2022 |
PNC2 (SLC25A36) Deficiency Associated With the Hyperinsulinism/Hyperammonemia Syndrome |
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2022 |
Prevalent MLC1 mutation causing autosomal recessive megalencephalic leukoencephalopathy in consanguineous Palestinian families |
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2022 |
L-2-Hydroxyglutaric aciduria in two Palestinian siblings with a novel mutation in the L2HGDH gene |
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2021 |
Niemann–Pick disease type C in Palestine: genotype and phenotype of sixteen patients and report of a novel mutation in the NPC1 gene |
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2021 |
Phenotype, genotype, and outcome of 25 Palestinian patients with hereditary tyrosinemia type 1 |
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2020 |
Genotype and clinical phenotype in four patients with glutathione synthetase deficiency |
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2017 |
A Novel Mutation in the AVPR2 Gene in a Palestinian Family with Nephrogenic Diabetes Insipidus |
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2017 |
Clinical heterogeneity of glycine encephalopathy in three Palestinian siblings: A novel mutation in the glycine decarboxylase (GLDC) gene |
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2016 |
Fanconi-Bickel syndrome in two Palestinian children: marked phenotypic variability with identical mutation |
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2016 |
A Distinct Phenotype of Mevalonic Acidemia with Absence of Pathogenic Mutations of Mevalonate Kinase Gene نمط ظاھري متميز لبيلة الميفالونيك مصاحبه بعدم وجود طفرات مرضيه في جين ميفالونات كيناز |
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2016 |
Capsule Endoscopy detects Meckel’s Diverticulum in a Child with Recurrent Gastrointestinal Bleeding: Case Report and Review of the Literature |
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2015 |
MEGDEL Syndrome in a Child From Palestine: Report of a Novel Mutation in SERAC1 Gene |
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2014 |
Severe persistent unremitting dermatitis, chronic diarrhea and hypoalbuminemia in a child; Hartnup disease in setting of celiac disease |
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2014 |
A distinct phenotype of childhood leukodystrophy presenting as absence seizure |
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2012 |
Ethylmalonic encephalopathy associated with crescentic glomerulonephritis |
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2011 |
GM1 GANGLIOSIDOSIS ASSOCIATED WITH NEONATAL-ONSET OF DIFFUSE ECCHYMOSES AND MONGOLIAN SPOTS |
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2010 |
Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy |
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2010 |
Propionic acidemia mimicking diabetic ketoacidosis |
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2007 |
Tricho-hepato-enteric syndrome: A case of hemochromatosis with intractable diarrhea, dysmorphic features, and hair abnormality |
