Sialic acid and anti-ganglioside M1 antibodies are invaluable biomarkers correlated with the severity of autism spectrum disorder

Authors: Ashaat, Engy A., Sabry, Sahar, Zaki, Moushira E., Mohamed, Ramy, Abdelsattar, Hoda A., Bawady, Somia A., Ashaat, Neveen A., Elnaggar, Walaa, Ganem, Mona M.F., El-Hariri, Hazem M., El-Bassyouni, Hala T., Saleh, Dina Amin

Source: Brain & development. 45(4):212-219

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100194766501.0x000001&indx=1&recIds=ETOCvdc_100194766501.0x000001

Clinical, biochemical, and molecular characterization of mucopolysaccharidosis type III in 34 Egyptian patients

Authors: Almenabawy, Nihal, Ramadan, Manal, Kamel, Mona, Mahmoud, Iman G., Amer, Fawzia, Shaheen, Yara, Elnaggar, Walaa, Selim, Laila

Source: American journal of medical genetics.Part A. 191(9):2354-2363

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100190376859.0x000001&indx=1&recIds=ETOCvdc_100190376859.0x000001

Clinical and Genetic Spectrum of Patients With Mitochondrial Disease in a Pediatric Egyptian Cohort: Novel Variants and Phenotypic Expansion.

Authors: Hassaan, Hebatallah M¹, hebatallah.m.hassaan@kasralainy.edu.eg, Pyle, Angela², Almenabawy, Nihal³, Robertson, Fiona M², Elkhateeb, Nour⁴, Girgis, Marian Y³, Mahmoud, Iman Gamal El Din³, Amer, Fawzia³, Samaha, Mona³, Shaheen, Yara³, ElNaggar, Walaa³, Abdoh, Doaa⁵, Mehaney, Dina Ahmed⁵, Meguid, Iman Ehsan Abdel¹, Taylor, Robert W^2,6, McFarland, Robert^2,6, Selim, Laila³

Source: American Journal of Medical Genetics. Part A; Feb2025, Vol. 197 Issue 2, p1-16, 16p

Assessment of gastrointestinal symptoms in neurologically impaired children with PEG using peptide versus casein based formulae.

Authors: Tarek, Sara, Eskander, Ayman E., Younis, Alaa Mohamed, Salama, Christine G., ElNaggar, Walaa

Source: Egyptian Pediatric Association Gazette; 11/14/2024, Vol. 72 Issue 1, p1-11, 11p

Subject Terms: PERCUTANEOUS endoscopic gastrostomy, GASTRIC emptying, WHEY proteins, PEPTIDES, GASTROESOPHAGEAL reflux, TOLERATION

The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children.

Authors: Elkhateeb, Nour, Issa, Mahmoud Y., Elbendary, Hasnaa M., Elnaggar, Walaa, Ramadan, Areef, Rafat, Karima, Kamel, Mona, Abdel‐Ghafar, Sherif F., Amer, Fawzia, Hassaan, Hebatallah M., Trunzo, Roberta, Pereira, Catarina, Abdel‐Hamid, Mohamed S., D'Arco, Felice, Bauer, Peter, Bertoli‐Avella, Aida M., Girgis, Marian, Gleeson, Joseph G., Zaki, Maha S., Selim, Laila

Source: Clinical Genetics; May2024, Vol. 105 Issue 5, p510-522, 13p

Subject Terms: EGYPTIANS, PEOPLE with epilepsy, GENETIC testing, GENETIC disorder diagnosis, EPILEPSY, CONSANGUINITY, LAMOTRIGINE

Geographic Terms: EGYPT

Clinical, biomarker and genetic spectrum of Niemann‐Pick type C in Egypt: The detection of nine novel NPC1 mutations

Authors: Mahmoud, Iman G., Elmonem, Mohamed A., Elkhateeb, Nour M., Elnaggar, Walaa, Sobhi, Ahmed, Girgis, Marian Y., Kamel, Mona, Shaheen, Yara, Samaha, Mona, Ramadan, Areef, Zaki, Maha S., El‐Hawary, Bahaa, Hassan, Sawsan A., Khalifa, Iman A., Mossad, Fawzya, Al‐Menabawy, Nihal M., Zielke, Susanne, Gleeson, Joseph G., Rolfs, Arndt, Selim, Laila A.

Source: Clinical genetics. 95(4):537-539

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100082922687.0x000001&indx=1&recIds=ETOCvdc_100082922687.0x000001