Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Waseem Mahmoud Fathalla"'
Autor:
Robin N. Stringer, Bohumila Jurkovicova-Tarabova, Ivana A. Souza, Judy Ibrahim, Tomas Vacik, Waseem Mahmoud Fathalla, Jozef Hertecant, Gerald W. Zamponi, Lubica Lacinova, Norbert Weiss
Publikováno v:
Molecular Brain, Vol 14, Iss 1, Pp 1-5 (2021)
Abstract Developmental and epileptic encephalopathies (DEEs) are a group of severe epilepsies that are characterized by seizures and developmental delay. DEEs are primarily attributed to genetic causes and an increasing number of cases have been corr
Externí odkaz:
https://doaj.org/article/3f066df756e94d84ba7d997e8e58c750
Autor:
Waseem Mahmoud Fathalla1 wfathalla@seha.ae, Noora Al Menhali1, Syed Arif Hosain1, Fatima Hashim Ibrahim2
Publikováno v:
Ibnosina Journal of Medicine & Biomedical Sciences. May-Jun2018, Vol. 10 Issue 3, p73-76. 4p. 1 Diagram, 1 Chart.
Autor:
Allan M. Lund, A. Broomfield, Rossella Parini, Maja Di Rocco, Waseem Mahmoud Fathalla, Anna Tylki-Szymańska, Maurizio Scarpa, Christina Lampe, Nathalie Guffon, Maureen Cleary, Linda De Meirleir, Jiří Zeman
Publikováno v:
Acta Paediatrica (Oslo, Norway : 1992)
Aim Mucopolysaccharidosis type I is a lysosomal storage disorder that can result in significant disease burden, disability and premature death, if left untreated. The aim of this review was to elaborate on the diagnosis of mucopolysaccharidosis type
Publikováno v:
Ibnosina Journal of Medicine and Biomedical Sciences. 10:28-31
Neurocutaneous melanosis (NCM) is a rare, congenital, noninherited neurocutaneous syndrome characterized by the presence of “multiple or large congenital nevi” with central nervous system melanocytic deposits. Majority of cases are asymptomatic.
Autor:
Linda De Meirleir, Christina Lampe, Nathalie Guffon, Waseem Mahmoud Fathalla, Jiri Zeman, Anna Tylki-Szymańska, Frits A. Wijburg, Maja Di Rocco, Maurizio Scarpa, Allan M. Lund, Rossella Parini
Publikováno v:
Acta Paediatrica (Oslo, Norway : 1992)
Acta paediatrica (Oslo, Norway, 107(8), 1402-1408. Wiley-Blackwell
Acta paediatrica (Oslo, Norway, 107(8), 1402-1408. Wiley-Blackwell
Aim The aim of this study was to develop an algorithm to prompt early clinical suspicion of mucopolysaccharidosis type I (MPS I). Methods An international working group was established in 2016 that comprised 11 experts in paediatrics, rare diseases a
Autor:
Waseem Mahmoud Fathalla
Publikováno v:
Ibnosina Journal of Medicine and Biomedical Sciences. :114-117
Objective: To observe seizure occurrence during the month of Ramadan among fasting Muslim children with epilepsy who are on treatment with antiepileptic drugs (AEDs). Methods: Prospective observational study of pediatric patients with epilepsy intend
Autor:
Waseem Mahmoud Fathalla
Publikováno v:
Ibnosina Journal of Medicine and Biomedical Sciences. :258-263
Many factors contribute to the conceptualization of health related quality of life. These same factors seem to influence the medical decision-making in a manner that reflects competing principles and interests. The overall trend, however, may appear
Autor:
Urooj Ahmed, Wael Almahmeed, Ali B Khalil, Mohamed Noshi, Abdulkarim Saleh, Abdulrazzak Al-Kaddour, Waseem Mahmoud Fathalla, Huda E. Mustafa, Nameer Al-Saadawi, Mohamed M Benbarka, Numan Amir, Hussien Elsiesy, Mohamed Almarzouqi, Husni Al Hatheethi, Salem A Beshyah
Publikováno v:
Ibnosina Journal of Medicine and Biomedical Sciences. :240-257
The day time fasting of Ramadan is observed annually by millions of adult Moslems all over the world. Some may have mild, moderate or severe medical conditions. They may seek advice on feasibility and safety of fasting and/or their management. Physic
Publikováno v:
Ibnosina Journal of Medicine and Biomedical Sciences. :133-138
We report a case of genetically confirmed molybdenum cofactor deficiency in an infant presenting with difficult to control neonatal seizures, and a severe cystic leukoencephalopathy on brain magnetic resonance imaging (MRI). This is a rare disease en
Autor:
Elamin Ahmed, Waseem Mahmoud Fathalla
Publikováno v:
JIMD Reports ISBN: 9783642334320
We aim to present our experience with infantile Pompe disease with focus on the impact of availability of treatment on awareness, diagnosis, and management of such patients.Case - review study of patients diagnosed with infantile Pompe disease and li
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2074763522a8f23cec541c858f1add55
https://doi.org/10.1007/8904_2012_148
https://doi.org/10.1007/8904_2012_148