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Nour Elkhateeb

Great Ormond Street Hospital

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591 Lessons from the newborn screening for pompe disease: a single-center UK experience based on USA newborn screening program

2021 Archives of Disease in Childhood
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Author response for "A novel POU1F1 pathogenic variant: Two familial case reports with phenotype expansion"

2021
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G471 Clinical characteristics, laboratory findings and management data in a single-center cohort of patients with heterozygous familial hypercholesterolemia

2020 Archives of Disease in Childhood
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Pancreatitis in multiple acyl CoA dehydrogenase deficiency: An underdiagnosed complication

2020
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65 When a metabolic screening fails a potential treatable diagnosis

2019 Archives of Disease in Childhood
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