Author

Osama K Zaki

Professof of Medical Genetics, Ain Shams University Hospital,Cairo, Egypt - Cited by 738 - Medical Genetics - Molecular Biology - Cytogenetics

Biography

Osama K Zaki is interested in Analytical Chemistry, Biochemistry, Environmental Chemistry MS human Genetics, His MS from Pediatrics and PhD in Med Genetic Research Interest:- Biochemistry,  Analytical Chemistry, Pediatrics,Environmental Chemistry,Genetic Epidemiology,Spectrometry
Title
Cited by
Year
Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants
SA Jones, V Valayannopoulos, E Schneider, S Eckert, M Banikazemi, ...Genetics in Medicine 18 (5), 452-458, 2016201
98
2016
Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study
SA Jones, S Rojas-Caro, AG Quinn, M Friedman, S Marulkar, F Ezgu, ...Orphanet journal of rare diseases 12, 1-11, 2017201
87
2017
l-Carnitine supplementation improves the behavioral symptoms in autistic children
SF Fahmy, MH El-Hamamsy, OK Zaki, OA BadaryResearch in Autism Spectrum Disorders 7 (1), 159-166, 2013201
62
2013
Cytogenetic study in cases with recurrent abortion in Saudi Arabia
M Al Hussain, L Al-Nuaim, ZA Talib, OK ZakiAnnals of Saudi Medicine 20 (3-4), 233-236, 2000200
53
2000
Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I
A Mosaeilhy, MM Mohamed, HSA El Abd, R Gamal, OK Zaki, H ZayedMetabolic brain disease 32, 1417-1426, 2017201
50
2017
Glutaric aciduria type 1: neuroimaging features with clinical correlation
SA Mohammad, HS Abdelkhalek, KA Ahmed, OK ZakiPediatric radiology , 1696-1705, 2015201
45
2015
Genotype–phenotype correlation in patients with isovaleric acidaemia: comparative structural modelling and computational analysis of novel variants
OK Zaki, G Priya Doss C, SA Ali, GG Murad, SA Elashi, MSA Ebnou, ...Human Molecular Genetics 26 (16), 3105-3115, 2017201
36
2017
Structural chromosomal abnormalities in couples with recurrent abortion in Egypt
NEA Gaboon, AR Mohamed, SM Elsayed, OK Zaki, MA ElsayedTurkish journal of medical sciences 45 (1), 208-213, 2015201
35
2015
Two patients with Canavan disease and structural modeling of a novel mutation
OK Zaki, N Krishnamoorthy, HS El Abd, SA Harche, RA Mattar, RS Al Disi, ...Metabolic brain disease 32, 171-177, 2017201
34
2017
The use of glycomacropeptide in dietary management of phenylketonuria
OK Zaki, L El-Wakeel, Y Ebeid, HS Ez Elarab, A Moustafa, N Abdulazim, ...Journal of Nutrition and Metabolism 2016, 2016201
29
2016
Severe and rapid disease course in the natural history of infants with lysosomal acid lipase deficiency
SA Jones, D Bernstein, M Bialer, A Dhawan, C Hendriksz, CB Whitley, ...Molecular Genetics and Metabolism 2 (111), S57-S58, 2014201
27
2014
Vitamin D intake and sun exposure in autistic children
SF Fahmy, NA Sabri, MH El Hamamsy, M El Sawi, OK ZakiInternational Journal of Pharmaceutical Sciences and Research 7 (3), 1043, 2016201
14
2016
Clinical, biochemical, neuroradiological and molecular characterization of Egyptian patients with glutaric acidemia type 1
H Zayed, H El Khayat, H Tomoum, O Khalifa, E Siddiq, SA Mohammad, ...Metabolic brain disease 34, 1231-1241, 2019201
14
2019
Increased seroprevalence of chronic toxoplasmosis in autistic children: Special reference to the pathophysiology of IFN-g and NO overproduction
J Prandota, NAF Elleboudy, KA Ismail, OK Zaki, HH ShehataInternational Journal of Neurology Research 1 (3), 102-122, 2015201
13
2015
Severe neurological manifestations in an Egyptian patient with a novel frameshift mutation in the Glutaryl-CoA dehydrogenase gene
A Moseilhy, MM Hassan, HSA El Abd, SA Mohammad, R El Bekay, ...Metabolic brain disease 32, 35-40, 2017201
11
2017
Novel mutation in an Egyptian patient with infantile Canavan disease
OK Zaki, HS El Abd, SA Mohamed, H ZayedMetabolic brain disease 31, 573-577, 2016201
8
2016
Screening of diseases associated with abnormal metabolites for evaluation of HPLC in organic aciduria profiling
DA Ghoraba, MM Mohamed, OK ZakiEgyptian Journal of Medical Human Genetics 15 (1), 69-8, 2014201
7
2014
A clinical study of mentally retarded children with fragile X syndrome in Saudi Arabia
M Al Husain, MAM Salih, OK Zaki, L Al Othman, MN Al NasserAnnals of Saudi medicine 20 (1), 1-19, 2000200
6
2000