Zobrazeno 1 - 10
of 95
pro vyhledávání: '"Solaf M. Elsayed"'
Autor:
Amal El-Beshlawy, Azza A. G. Tantawy, Rabah M. Shawky, Solaf M. Elsayed, Iman M. Marzouk, S. Elgawhary, Hadeer Abdelghaffar, Usama El Safy, Khaled Eid, Khalid I. EISayh, Ahmed Megahed, Amira Adly, Eman M. Sherif, Mervat A. M. Youssef, Manar Mohamed Fathy, Nouran Yousef Salah, Sherine M. Elzeiny, Eslam Rabie Abdel Aziz EI Bakky, Ekram Fateen
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 25, Iss 1, Pp 1-16 (2024)
Abstract Background Gaucher disease (GD), an autosomal recessive, lysosomal storage disorder, is caused due to mutations in the glucocerebrosidase (GBA) gene. GD can occur at any age and is classified as type 1 (non-neurologic), type 2 (infantile for
Externí odkaz:
https://doaj.org/article/40af8925d1554eb7ab90e6b492f1c684
Autor:
Tawhida Y. Abdel Ghaffar, Bobby G. Ng, Solaf M. Elsayed, Suzan El Naghi, Sarah Helmy, Nermine Mohammed, Ahmed El Hennawy, Hudson H. Freeze
Publikováno v:
JIMD Reports, Vol 56, Iss 1, Pp 20-26 (2020)
Abstract MPI‐CDG is a rare congenital disorder of glycosylation (CDG) which presents with hepato‐gastrointestinal symptoms and hypoglycemia. We report on hepatic evaluation of two pediatric patients who presented to us with gastrointestinal sympt
Externí odkaz:
https://doaj.org/article/b8bb74acd9694e35a7e695786db69adf
Autor:
Hanan Elsebaie, Mohamed Abdelhafiz Mansour, Solaf M. Elsayed, Shady Mahmoud, Tamer A. El-Sobky
Publikováno v:
Bone Reports, Vol 15, Iss , Pp 101106- (2021)
Multicentric Osteolysis, Nodulosis, and Arthropathy (MONA) syndrome is a rare genetic skeletal dysplasia. Its diagnosis can be deceptively similar to childhood-onset genetic skeletal dysplasias and juvenile idiopathic arthritis. We aimed to report th
Externí odkaz:
https://doaj.org/article/7ea0175d5d2b4695bab721dfb30b4a92
Autor:
Tamer A. El-Sobky, Solaf M. Elsayed
Publikováno v:
Boletín Médico del Hospital Infantil de México, Vol 78, Iss 5 (2021)
Externí odkaz:
https://doaj.org/article/da82f3fed0a642f794682b8ba7784e4a
Autor:
Solaf M. Elsayed
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 22, Iss 1, Pp 1-1 (2021)
Externí odkaz:
https://doaj.org/article/ed1c569fd6d04d0cbceb45571d2c835d
Autor:
Solaf M. Elsayed, Radwa Gamal
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 18, Iss 4, Pp 393-396 (2017)
The publisher regrets that this article has been temporarily removed. A replacement will appear as soon as possible in which the reason for the removal of the article will be specified, or the article will be reinstated.The full Elsevier Policy on Ar
Externí odkaz:
https://doaj.org/article/5a8bbfacdb81460db42808d4ac85aff6
Autor:
Solaf M. Elsayed, Nagia Fahmy, Radwa Gamal, Mohamed Wafik, Dina Zamzam, Mai Fahmy, Mahmoud Suelam
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 18, Iss 3, Pp 295-298 (2017)
Neurofibromatosis type I (NF1) is an autosomal dominant disorder with involvement of both the cutaneous and nervous systems. Patients are susceptible to neurological complication in the form of tumors of the brain and spinal cord. Multiple sclerosis
Externí odkaz:
https://doaj.org/article/33271d4bfa5d4959aa1fc1d8878f2f09
Publikováno v:
The Egyptian Journal of Radiology and Nuclear Medicine, Vol 48, Iss 1, Pp 237-243 (2017)
Malignant infantile autosomal recessive osteopetrosis (ARO) is rare hereditable skeletal dysplasia characterized by a generalized osteosclerosis. ARO usually runs a fatal course in early childhood if untreated. Serious complications can arise from bo
Externí odkaz:
https://doaj.org/article/f90beb6f0afc445fade4fd8e03892323
Publikováno v:
The Egyptian Journal of Radiology and Nuclear Medicine, Vol 48, Iss 1, Pp 245-250 (2017)
Pseudoachondroplasia is a rare osteochondrodysplasia characterized by disproportionate short stature and limb deformity. Diagnostic accuracy is based on a detailed evaluation of the radioclinical features. We report a boy with pseudoachondroplasia. W
Externí odkaz:
https://doaj.org/article/66600805815144f39a691417b1760054
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 17, Iss 3, Pp 255-258 (2016)
Ichthyosis is a genetically and phenotypically heterogeneous disease that can be isolated and restricted to the skin manifestations or associated with extracutaneous symptoms. One of which is limb reduction defect known as CHILD syndrome; a rare inbo
Externí odkaz:
https://doaj.org/article/660bac255564499cb97a5f7c1e1758b1