Search Results - "Almenabawy, Nihal"

Clinical and biochemical phenotypes, genotypes, and long-term outcomes of individuals with galactosemia type I from a single metabolic genetics center in Alberta by Almenabawy, Nihal, Bahl, Shalini, Ostlund, Alyssa-Lyn, Ghai-Jain, Shailly, Sosova, Iveta, Chan, Alicia, Mercimek-Andrews, Saadet

“…Galactosemia type I is an autosomal recessive disorder of galactose metabolism due to galactose-1-phosphate uridyltransferase deficiency, encoded by GALT. To…”
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Clinical and biochemical spectrum of metabolic cardiomyopathy in Egyptian children by Salah Seliem, Zeinab, Ahmed Mehaney, Dina, Abd elmoteleb Selim, Laila, Ali El-Saiedi, Sonia, Ibrahim Ismail, Reem, Magdi Almenabawy, Nihal, Ibrahim Ammar, Rasha, AbdElsattar Saad, Inas, Mosad Soliman, Mohammed, A Elmonem, Mohamed

“…Background: Inborn errors of metabolism (IEMs) commonly present with pediatric cardiomyopathy. Identification of the underlying cause is necessary as it may…”
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Importance of the biochemical investigations for the functional characterization of a NPC1 variant identified by exome sequencing by Almenabawy, Nihal, Hung, Clara, Sosova, Iveta, Mercimek‐Andrews, Saadet

“…Niemann–Pick disease type C (NPC) is one of the lysosomal storage disorders. It is caused by biallelic pathogenic variants in NPC1 or NPC2, which results in a…”
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Clinical, biochemical, and molecular characterization of mucopolysaccharidosis type III in 34 Egyptian patients by Almenabawy, Nihal, Ramadan, Manal, Kamel, Mona, Mahmoud, Iman G., Amer, Fawzia, Shaheen, Yara, Elnaggar, Walaa, Selim, Laila

“…Mucopolysaccharidosis type III (MPS III) is a rare autosomal recessive lysosomal storage disorder characterized by progressive neurocognitive deterioration…”
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Clinical and genetic spectrum of mitochondrial DNA depletion syndromes: A report of 6 cases with 4 novel variants by AlMenabawy, Nihal, Hassaan, Hebatallah M, Ramadan, Manal, Ehsan Abdel Meguid, Iman, Ahmed El Gindy, Hala, Beetz, Christian, Selim, Laila

“…Mitochondrial DNA (mtDNA) depletion syndromes (MDS) are a heterogeneous group of rare autosomal recessive genetic disorders characterized by a decrease in the…”
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Clinical and Genetic Spectrum of Patients With Mitochondrial Disease in a Pediatric Egyptian Cohort: Novel Variants and Phenotypic Expansion by Hassaan, Hebatallah M, Pyle, Angela, Almenabawy, Nihal, Robertson, Fiona M, Elkhateeb, Nour, Girgis, Marian Y, Mahmoud, Iman Gamal El Din, Amer, Fawzia, Samaha, Mona, Shaheen, Yara, ElNaggar, Walaa, Abdoh, Doaa, Mehaney, Dina Ahmed, Meguid, Iman Ehsan Abdel, Taylor, Robert W, McFarland, Robert, Selim, Laila

“…Mitochondrial disorders exhibit clinical and genetic diversity. Nearly 400 distinct genes, located in both the mitochondrial and nuclear genomes, harbor…”
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