Case report: Novel genotype of ALG2-CDG and confirmation of the heptasaccharide glycan (NeuAc-Gal-GlcNAc-Man2-GlcNAc2) as a specific diagnostic biomarker
Martínez Duncker, Ivan, Mata-Salgado, Denisse, Shammas, Ibrahim, Ranatunga, Wasantha, Daniel, Earnest James Paul, Cruz Muñoz, Mario E, Abreu, Melania, Mora-Montes, Héctor, He, Miao, Morava, Eva, Zafra de la Rosa, Gildardo
Published in Frontiers in genetics (06.05.2024)
Published in Frontiers in genetics (06.05.2024)
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Journal Article
Case Report of Friedreich's Ataxia and ALG1-Related Biochemical Abnormalities in a Patient With Progressive Spastic Paraplegia
Quinlan, Aisling, Rodan, Lance, Barkoudah, Elizabeth, Tam, Amy, Saffari, Afshin, Shammas, Ibrahim, Ranatunga, Wasantha, Morava-Kozicz, Eva, Oglesbee, Devin, Berry, Gerald, Ebrahimi-Fakhari, Darius, Srivastava, Siddharth
Published in American journal of medical genetics. Part A (26.09.2024)
Published in American journal of medical genetics. Part A (26.09.2024)
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Journal Article
Guillan-barre syndrome during COVID-19 pandemic: a case series from Syria
Labbad, Ibrahim, Shammas, Ibrahim, Abbas, Aram, Alorfhli, Ibrahim, Agha, Mohamad S
Published in Annals of medicine and surgery (01.06.2023)
Published in Annals of medicine and surgery (01.06.2023)
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Journal Article
ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines
Shah, Rameen, Eklund, Erik A., Radenkovic, Silvia, Sadek, Mustafa, Shammas, Ibrahim, Verberkmoes, Sanne, Ng, Bobby G., Freeze, Hudson H., Edmondson, Andrew C., He, Miao, Kozicz, Tamas, Altassan, Ruqaiah, Morava, Eva
Published in Molecular genetics and metabolism (01.06.2024)
Published in Molecular genetics and metabolism (01.06.2024)
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Journal Article
Case report: Novel genotype of ALG2-CDG and confirmation of the heptasaccharide glycan (NeuAc-Gal-GlcNAc-Man2-GlcNAc2) as a specific diagnostic biomarker
Martínez Duncker, Ivan, Mata-Salgado, Denisse, Shammas, Ibrahim, Ranatunga, Wasantha, Daniel, Earnest James Paul, Cruz Muñoz, Mario E, Abreu, Melania, Mora-Montes, Héctor, He, Miao, Morava, Eva, Zafra de la Rosa, Gildardo
Published in Frontiers in genetics (01.01.2024)
Published in Frontiers in genetics (01.01.2024)
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Pseudomonas aeruginosa ophthalmia neonatorum
Traboulsi, E I, Shammas, I V, Ratl, H E, Jarudi, N I
Published in American journal of ophthalmology (15.12.1984)
Published in American journal of ophthalmology (15.12.1984)
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Journal Article