Detalhe da pesquisa
1.
TECPR2-related hereditary sensory and autonomic neuropathy in two siblings from Palestine.
Am J Med Genet A
; 194(7): e63579, 2024 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-38436550
2.
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission.
Brain
; 146(11): 4547-4561, 2023 11 02.
Artigo
Inglês
| MEDLINE | ID: mdl-37459438
3.
Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy.
J Med Genet
; 55(9): 599-606, 2018 09.
Artigo
Inglês
| MEDLINE | ID: mdl-29764912
4.
Severe persistent unremitting dermatitis, chronic diarrhea and hypoalbuminemia in a child; Hartnup disease in setting of celiac disease.
BMC Pediatr
; 14: 311, 2014 Dec 20.
Artigo
Inglês
| MEDLINE | ID: mdl-25526748
5.
Ethylmalonic encephalopathy associated with crescentic glomerulonephritis.
Metab Brain Dis
; 27(4): 613-6, 2012 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-22584649
6.
Clinical heterogeneity of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome in thirteen palestinian patients and report of a novel variant in the SLC25A15 gene.
Front Genet
; 13: 1004598, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-36506307
7.
Prevalent MLC1 mutation causing autosomal recessive megalencephalic leukoencephalopathy in consanguineous Palestinian families.
Brain Dev
; 44(7): 454-461, 2022 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-35440380
8.
Late onset hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome, presenting as recurrent metabolic encephalopathy, A case report.
Ann Med Surg (Lond)
; 84: 104842, 2022 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-36582900
9.
PNC2 (SLC25A36) Deficiency Associated With the Hyperinsulinism/Hyperammonemia Syndrome.
J Clin Endocrinol Metab
; 107(5): 1346-1356, 2022 04 19.
Artigo
Inglês
| MEDLINE | ID: mdl-34971397
10.
Phenotype, genotype, and outcome of 25 Palestinian patients with hereditary tyrosinemia type 1.
Metabol Open
; 9: 100083, 2021 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-33598652
11.
Niemann-Pick disease type C in Palestine: genotype and phenotype of sixteen patients and report of a novel mutation in the NPC1 gene.
BMC Med Genomics
; 14(1): 228, 2021 09 17.
Artigo
Inglês
| MEDLINE | ID: mdl-34535129
12.
Glutaric aciduria type 1: clinical, biochemical and molecular findings in patients from Israel.
Eur J Paediatr Neurol
; 11(2): 81-9, 2007 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-17188916
13.
Clinical heterogeneity of glycine encephalopathy in three Palestinian siblings: A novel mutation in the glycine decarboxylase (GLDC) gene.
Brain Dev
; 39(7): 601-605, 2017 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-28325525
14.
Fanconi-Bickel syndrome in two Palestinian children: marked phenotypic variability with identical mutation.
BMC Res Notes
; 9: 387, 2016 Aug 04.
Artigo
Inglês
| MEDLINE | ID: mdl-27487919
15.
MEGDEL Syndrome in a Child From Palestine: Report of a Novel Mutation in SERAC1 Gene.
J Child Neurol
; 30(8): 1053-6, 2015 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-25051967
16.
A distinct phenotype of childhood leukodystrophy presenting as absence seizure.
J Pediatr Neurosci
; 9(1): 63-5, 2014 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-24891910
17.
Gm1 gangliosidosis associated with neonatal-onset of diffuse ecchymoses and mongolian spots.
Indian J Dermatol
; 56(1): 98-100, 2011 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-21572805
18.
Propionic acidemia mimicking diabetic ketoacidosis.
Brain Dev
; 33(5): 428-31, 2011 May.
Artigo
Inglês
| MEDLINE | ID: mdl-20634010
19.
Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy.
Nat Med
; 16(8): 869-71, 2010 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-20657580
20.
Tricho-hepato-enteric syndrome: a case of hemochromatosis with intractable diarrhea, dysmorphic features, and hair abnormality.
Am J Med Genet A
; 143A(6): 581-3, 2007 Mar 15.
Artigo
Inglês
| MEDLINE | ID: mdl-17236206