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

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Clinical and biochemical spectrum of metabolic cardiomyopathy in Egyptian children von 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

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Importance of the biochemical investigations for the functional characterization of a NPC1 variant identified by exome sequencing von Almenabawy, Nihal, Hung, Clara, Sosova, Iveta, Mercimek‐Andrews, Saadet

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Clinical, biochemical, and molecular characterization of mucopolysaccharidosis type III in 34 Egyptian patients von Almenabawy, Nihal, Ramadan, Manal, Kamel, Mona, Mahmoud, Iman G., Amer, Fawzia, Shaheen, Yara, Elnaggar, Walaa, Selim, Laila

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Clinical and genetic spectrum of mitochondrial DNA depletion syndromes: A report of 6 cases with 4 novel variants von AlMenabawy, Nihal, Hassaan, Hebatallah M, Ramadan, Manal, Ehsan Abdel Meguid, Iman, Ahmed El Gindy, Hala, Beetz, Christian, Selim, Laila

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

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