| Genotype and clinical phenotype in four patients with glutathione synthetase deficiency |
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| Phenotype, genotype, and outcome of 25 Palestinian patients with hereditary tyrosinemia type 1 |
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| 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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| PNC2 (SLC25A36) Deficiency Associated With the Hyperinsulinism/Hyperammonemia Syndrome |
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| L-2-Hydroxyglutaric aciduria in two Palestinian siblings with a novel mutation in the L2HGDH gene |
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| Prevalent MLC1 mutation causing autosomal recessive megalencephalic leukoencephalopathy in consanguineous Palestinian families |
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| Late onset hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome, presenting as recurrent metabolic encephalopathy, A case report |
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| Clinical heterogeneity of glycine encephalopathy in three Palestinian siblings: A novel mutation in the glycine decarboxylase (GLDC) gene |
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| A Novel Mutation in the AVPR2 Gene in a Palestinian Family with Nephrogenic Diabetes Insipidus |
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| Fanconi-Bickel syndrome in two Palestinian children: marked phenotypic variability with identical mutation |
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| Capsule Endoscopy detects Meckel’s Diverticulum in a Child with Recurrent Gastrointestinal Bleeding: Case Report and Review of the Literature |
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| 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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| 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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| A distinct phenotype of childhood leukodystrophy presenting as absence seizure |
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| Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy |
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| Ethylmalonic encephalopathy associated with crescentic glomerulonephritis |
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| GM1 GANGLIOSIDOSIS ASSOCIATED WITH NEONATAL-ONSET OF DIFFUSE ECCHYMOSES AND MONGOLIAN SPOTS |
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| MEGDEL Syndrome in a Child From Palestine: Report of a Novel Mutation in SERAC1 Gene |
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| Propionic acidemia mimicking diabetic ketoacidosis |
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| Severe persistent unremitting dermatitis, chronic diarrhea and hypoalbuminemia in a child; Hartnup disease in setting of celiac disease |
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| Tricho-hepato-enteric syndrome: A case of hemochromatosis with intractable diarrhea, dysmorphic features, and hair abnormality |
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| SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission |
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| TECPR2-related hereditary sensory and autonomic neuropathy in two siblings from Palestine |
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| Genetic, Clinical, and Biochemical Characterization of a Large Cohort of Palestinian Patients with Fanconi-Bickel Syndrome |
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| Genotype and Clinical Phenotype of Monocarboxylate Transporter 1 Deficiency in Three Palestinian Children: Report of Two Novel Variants in the SLC16A1 Gene |
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| Genotype and Clinical Phenotype of Monocarboxylate Transporter 1 Deficiency in Three Palestinian Children: Report of Two Novel Variants in the SLC16A1 Gene |
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| Molecular characterization, clinical phenotype, and neurological outcome of twelve Palestinian children with beta-ketothiolase deficiency: report of two novel variants in the ACAT1 gene |
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