Works by Sadek, Abdelrahim A.

Results: 28

Urinary stones as the initial presentation in a child with late-onset molybdenum cofactor deficiency type B: a case report and review of literature.

Published in:

Egyptian Journal of Medical Human Genetics, 2025, v. 26, n. 1, p. 1, doi. 10.1186/s43042-025-00720-9

By:

Sadek, Abdelrahim A.;
Aladawy, Mohammed A.;
Magdy, Rofaida M.;
Fouad, Mohammed Fawzy;
Mansour, Tarek M. M.;
Gad, Eman Fathalla;
Abdelkreem, Elsayed

Publication type:

Article

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.

Published in:

Nature Genetics, 2015, v. 47, n. 5, p. 528, doi. 10.1038/ng.3256

By:

Akizu, Naiara;
Ozgul, R Koksal;
Sagıroglu, Mahmut Samil;
Azam, Matloob;
Selim, Laila;
Mahmoud, Iman G;
Abdel-Hadi, Sawsan;
Badawy, Amera El;
Sadek, Abdelrahim A;
Mojahedi, Faezeh;
Kayserili, Hulya;
Masri, Amira;
Bastaki, Laila;
Müller, Ulrich;
Cantagrel, Vincent;
Desguerre, Isabelle;
Casanova, Jean-Laurent;
Dursun, Ali;
Gunel, Murat;
Gabriel, Stacey B

Publication type:

Article

The genetic landscape of autism spectrum disorders.

Published in:

Developmental Medicine & Child Neurology, 2014, v. 56, n. 1, p. 12, doi. 10.1111/dmcn.12278

By:

Rosti, Rasim O;
Sadek, Abdelrahim A;
Vaux, Keith K;
Gleeson, Joseph G

Publication type:

Article

Levetiracetam and Midazolam vs Midazolam Alone for First-Line Treatment of Children With Generalized Convulsive Status Epilepticus (Lev-Mid Study): A Randomized Controlled Trial.

Published in:

Indian Pediatrics, 2023, v. 60, n. 8, p. 630, doi. 10.1007/s13312-023-2960-8

By:

Elshater, Ahmed A.;
Sadek, Abdelrahim A.;
Abdelkreem, Elsayed

Publication type:

Article

Clinical and neuropsychological outcomes for children with phenylketonuria in Upper Egypt; a single-center study over 5 years.

Published in:

Neuropsychiatric Disease & Treatment, 2018, v. 14, p. 2551, doi. 10.2147/NDT.S176198

By:

Sadek, Abdelrahim A;
Hassan, Mohammed H;
Mohammed, Nesreen A

Publication type:

Article

Clinical and molecular spectrum of a large Egyptian cohort with ALS2‐related disorders of infantile‐onset of clinical continuum IAHSP/JPLS.

Published in:

Clinical Genetics, 2023, v. 104, n. 2, p. 238, doi. 10.1111/cge.14338

By:

Zaki, Maha S.;
Sharaf‐Eldin, Wessam E.;
Rafat, Karima;
Elbendary, Hasnaa M.;
Kamel, Mona;
Elkhateeb, Nour;
Noureldeen, Mahmoud M.;
Abdeltawab, Mohamed A.;
Sadek, Abdelrahim A.;
Essawi, Mona L.;
Lau, Tracy;
Murphy, David;
Abdel‐Hamid, Mohamed S.;
Holuden, Henry;
Issa, Mahmoud Y.;
Gleeson, Joseph G.

Publication type:

Article

Yield of karyotyping in children with developmental delay and/or dysmorphic features in Sohag University Hospital, Upper Egypt.

Published in:

Egyptian Journal of Medical Human Genetics, 2018, v. 19, n. 3, p. 253, doi. 10.1016/j.ejmhg.2017.12.007

By:

Sadek, Abdelrahim A.;
Mohamed, Mostafa Ashry

Publication type:

Article

Multidisciplinary approach for evaluation of neurocutaneous disorders in children in Sohag University Hospital, Upper Egypt.

Published in:

Egyptian Journal of Medical Human Genetics, 2015, v. 16, n. 2, p. 149, doi. 10.1016/j.ejmhg.2015.02.003

By:

Sadek, Abdelrahim A.;
Samad, Sahr N. Abdel;
Bakheet, Mohammed A.;
Hassan, Ismail A. A.;
El-Mageed, Wafaa M. Abd;
Emam, Ahmed M.

Publication type:

Article

Language impairment in attention deficit hyperactivity disorder in preschool children.

Published in:

Egyptian Journal of Medical Human Genetics, 2013, v. 14, n. 4, p. 383, doi. 10.1016/j.ejmhg.2013.05.001

By:

El Sady, Safaa Refaat;
Nabeih, Ahlam Abdel-Salam;
Mostafa, Eman Mohamed A.;
Sadek, Abdelrahim A.

Publication type:

Article

Clinicolaboratory profile of phenylketonuria (PKU) in Sohag University Hospital-Upper Egypt.

Published in:

Egyptian Journal of Medical Human Genetics, 2013, v. 14, n. 3, p. 293, doi. 10.1016/j.ejmhg.2013.03.001

By:

Sadek, Abdelrahim A.;
Emam, Ahmed M.;
Alhaggagy, Mostafa Y.

Publication type:

Article

Blepharophimosis‐ptosis‐intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum.

Published in:

American Journal of Medical Genetics. Part A, 2020, v. 182, n. 12, p. 2857, doi. 10.1002/ajmg.a.61857

By:

Zaki, Maha S.;
Otaify, Ghada A.;
Ismail, Samira;
Issa, Mahmoud Y.;
El‐Ruby, Mona O.;
Sadek, Abdelrahim A.;
Ashaat, Engy A.;
El Saeidi, Sonia A.;
Aglan, Mona S.;
Temtamy, Samia;
Abdel‐Hamid, Mohamed S.

Publication type:

Article

Characterization and outcome of 11 children with non-diabetic ketoacidosis.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 2021, v. 34, n. 1, p. 95, doi. 10.1515/jpem-2020-0324

By:

Abdelkreem, Elsayed;
Magdy, Rofaida M.;
Sadek, Abdelrahim A.

Publication type:

Article

Clinicoradiologic Correlation in 22 Egyptian Children With Megalencephalic Leukoencephalopathy With Subcortical Cysts.

Published in:

Journal of Child Neurology, 2022, v. 37, n. 5, p. 380, doi. 10.1177/08830738221078683

By:

Sadek, Abdelrahim A.;
Aladawy, Mohammed A.;
Mansour, Tarek M. M.;
Ibrahim, Mohamed F.;
Mohamed, Montaser M.;
Gad, Eman F.;
Othman, Amr A.;
Ahmed, Hosny A.;
Kasim, Abdin K.;
Wagdy, Wael M.;
Hasan, Mohamed H. T.;
Abdelkreem, Elsayed

Publication type:

Article

Serum Levels of Leptin and Adiponectin in Children with Febrile Seizures: A Case-Control Study.

Published in:

Egyptian Journal of Hospital Medicine, 2023, v. 90, n. 1, p. 1494, doi. 10.21608/ejhm.2023.282376

By:

Abdelkreem, Elsayed;
Mohamed, Hager A.;
Sadek, Abdelrahim A.;
Abdel-Gawad, Abdelhady R.;
Othman, Amr A.

Publication type:

Article

Characterization of 42 Egyptian Children with Lysosomal Storage Disorders.

Published in:

Egyptian Journal of Hospital Medicine, 2022, v. 88, p. 3069, doi. 10.21608/ejhm.2022.244542

By:

Fahmy, Eman M.;
Abdelkreem, Elsayed;
Mohamed, Osama E.;
Abosdera, Mostafa M.;
Sadek, Abdelrahim A.

Publication type:

Article

Evaluation of Neutrophil Gelatinase-Associated Lipocalin Levels in Children With Febrile Seizures: A Case-Control Study.

Published in:

Clinical Pediatrics, 2025, v. 64, n. 6, p. 771, doi. 10.1177/00099228241292948

By:

Kassem, Mohamed A.;
Abbass, Amany;
Ahmed, Heba A.;
Othman, Amr A.;
Fahim, Bishoy;
Sadek, Abdelrahim A.;
Abdelkreem, Elsayed

Publication type:

Article

The rare association of congenital glaucoma, giant melanocytic nevus, alopecia, and hypospadias in an Egyptian child with neurofibromatosis type 1: a case report.

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00579-2

By:

Sadek, Abdelrahim A.;
Aladawy, Mohammed A.;
Mansour, Tarek M. M.;
Sayed, Khulood M.;
Khang, Rin;
Abdelkreem, Elsayed

Publication type:

Article

Role of umbilical cord C-peptide levels in early prediction of hypoglycemia in infants of diabetic mothers.

Published in:

BMC Pediatrics, 2021, v. 21, n. 1, p. 1, doi. 10.1186/s12887-021-02547-w

By:

Saber, Ahlam M.;
Mohamed, Magdy A.;
Sadek, Abdelrahim A.;
Mahmoud, Ramadan A.

Publication type:

Article

Role of umbilical cord C-peptide levels in early prediction of hypoglycemia in infants of diabetic mothers.

Published in:

2021

By:

Saber, Ahlam M.;
Mohamed, Magdy A.;
Sadek, Abdelrahim A.;
Mahmoud, Ramadan A.

Publication type:

journal article

Propionic and Methylmalonic Acidemias: Initial Clinical and Biochemical Presentation.

Published in:

International Journal of Pediatrics, 2020, p. 1, doi. 10.1155/2020/7653716

By:

Mobarak, Amira;
Dawoud, Heba;
Mokhtar, Wesam A.;
Sadek, Abdelrahim A.;
Bebars, Gihan Mohamed;
Othman, Amr Ahmed;
Magdy, Rofaida M.;
Nofal, Hanaa;
Zoair, Amr

Publication type:

Article

Pediatric self-inflicted eye trauma due to a major depressive disorder.

Published in:

Electronic Physician, 2018, v. 10, n. 5, p. 6771, doi. 10.19082/6771

By:

Mounir, Amr;
Elghobaier, Mohamed Gamal;
Sadek, Abdelrahim Abdrabou;
Othman, Amr Ahmed

Publication type:

Article

Evaluation of cardiac functions in children with Duchenne Muscular Dystrophy: A prospective case-control study.

Published in:

Electronic Physician, 2017, v. 9, n. 11, p. 5732, doi. 10.19082/5732

By:

Sadek, Abdelrahim Abdrabou;
Mahmoud, Shaimaa Mohamed;
El-Aal, Mohammed Abd;
Allam, Ahmed Ahmed;
El-Halim, Walaa Ibrahim Abd

Publication type:

Article

Study of the C677T and 1298AC polymorphic genotypes of MTHFR Gene in autism spectrum disorder.

Published in:

Electronic Physician, 2017, v. 9, n. 9, p. 5287, doi. 10.19082/5287

By:

El-baz, Farida;
El-Aal, Mohammed Abd;
Kamal, Tarek Moustafa;
Sadek, Abdelrahim Abdrabou;
Othman, Amr Ahmed

Publication type:

Article

Outcome of Guillain - Barré Syndrome in Children: A prospective cohort study in a tertiary hospital in Upper Egypt.

Published in:

Electronic Physician, 2016, v. 8, n. 12, p. 3318, doi. 10.19082/3318

By:

Sadek, Abdelrahim Abdrabou;
Abou-Taleb, Ashraf;
Ali, Wafaa Ahmed

Publication type:

Article

Pattern and Outcome of Acute Disseminated Encephalomyelitis (ADEM) in Children: Experience in a Tertiary Center, Upper Egypt.

Published in:

Electronic Physician, 2016, v. 8, n. 7, p. 2679, doi. 10.19082/2679

By:

Sadek, Abdelrahim Abdrabou;
Mohamed, Mostafa Ashry;
Abou-Taleb, Ashraf;
Mohammed, Marwa Ibrahim

Publication type:

Article

Diagnostic value of lumbar puncture among infants and children presenting with fever and convulsions.

Published in:

Electronic Physician, 2016, v. 8, n. 4, p. 2255, doi. 10.19082/2255

By:

Sadek, Abdelrahim Abdrabou;
Mohamad, Mostafa Ashry;
Ali, Safaa Hussin;
Hassan, Ismail Abd Al-Aleem;
Hussein, Mohammad Fouad

Publication type:

Article

Clinico-laboratory profile of breath-holding spells in children in Sohag University Hospital, Upper Egypt.

Published in:

Electronic Physician, 2016, v. 8, n. 4, p. 2227, doi. 10.19082/2227

By:

Sadek, Abdelrahim Abdrabou;
Mohamed, Montaser Mohamed;
Ahmed Sharaf, El-Zahraa El-Said;
Magdy, Rofaida Mohamed;
Allam, Ahmed Ahmed

Publication type:

Article

Metabolic profile of oxidative stress and trace elements in febrile seizures among children.

Published in:

Metabolic Brain Disease, 2018, v. 33, n. 5, p. 1509, doi. 10.1007/s11011-018-0258-7

By:

El-Masry, Hosny M. A.;
Sadek, Abdelrahim A.;
Hassan, Mohammed H.;
Ameen, Hesham H.;
Ahmed, Hosny A.

Publication type:

Article