Detalhe da pesquisa
1.
Profile of plasma free amino acids, carnitine and acylcarnitines, and JAK2v617f mutation as potential metabolic markers in children with type 1 diabetic nephropathy.
Biomed Chromatogr
; 37(12): e5747, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37728037
2.
PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly.
Hum Mutat
; 37(2): 170-4, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26593283
3.
Novel gene-specific Bayesian Gaussian mixture model to predict the missense variants pathogenicity of Sanfilippo syndrome.
Sci Rep
; 14(1): 12148, 2024 05 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38802532
4.
Biochemical and mutational analyses of HEXA in a cohort of Egyptian patients with infantile Tay-Sachs disease. Expansion of the mutation spectrum.
Orphanet J Rare Dis
; 18(1): 52, 2023 03 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36907859
5.
Biochemical diagnosis of Sanfilippo disorder types A and B.
J Genet Eng Biotechnol
; 21(1): 112, 2023 Nov 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37947910
6.
Mucopolysaccharidoses diagnosis in the era of enzyme replacement therapy in Egypt.
Heliyon
; 7(8): e07830, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34471711
7.
Quaternary diagnostics scheme for mucolipidosis II and detection of novel mutation in GNPTAB gene.
J Genet Eng Biotechnol
; 19(1): 111, 2021 Aug 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34342781
8.
Clinical, Biochemical, and Molecular Characterization of Metachromatic Leukodystrophy Among Egyptian Pediatric Patients: Expansion of the ARSA Mutational Spectrum.
J Mol Neurosci
; 71(5): 1112-1130, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33185815
9.
Egyptian glycogen storage disease type III - identification of six novel AGL mutations, including a large 1.5 kb deletion and a missense mutation p.L620P with subtype IIId.
Clin Chem Lab Med
; 47(10): 1233-8, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19754354
10.
Twenty- five years of biochemical diagnosis of Gaucher disease: the Egyptian experience.
Heliyon
; 5(10): e02574, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31720445
11.
Prenatal diagnosis of perplexing cases of lipidoses.
Bratisl Lek Listy
; 109(11): 493-6, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-19205558
12.
Four novel mutations in the N-acetylgalactosamine-6-sulfate sulfatase gene among Egyptian patients with Morquio A disease.
Gene
; 600: 48-54, 2017 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27825773
13.
A multicenter, open-label, phase III study of Abcertin in Gaucher disease.
Medicine (Baltimore)
; 96(45): e8492, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-29137040
14.
Phenotypical variability in glycogen storage disease type III with a recurrent AGL mutation c.750-753delAGAC.
Muscle Nerve
; 43(3): 451, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21321962
15.
Clinical spectrum associated with some structural cerebellar abnormalities.
Neurosciences (Riyadh)
; 11(4): 271-8, 2006 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22266436
16.
Glycogen storage disease type III in Egyptian children: a single centre clinico-laboratory study.
Arab J Gastroenterol
; 15(2): 63-7, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25097048
17.
Dyggve-Melchior-Clausen syndrome: clinical, genetic, and radiological study of 15 Egyptian patients from nine unrelated families.
J Child Orthop
; 3(6): 451-8, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19816730
18.
Mutational Analysis of the alpha-L-iduronidase gene in three Egyptian families: identification of three novel mutations and five novel polymorphisms.
Genet Test Mol Biomarkers
; 13(6): 761-4, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19839758
19.
Molecular characterization of Egyptian patients with glycogen storage disease type IIIa.
J Hum Genet
; 50(10): 538-542, 2005.
Artigo
em Inglês
| MEDLINE | ID: mdl-16189622