A case series of Cypriot patients with CblC defect: Clinical, biochemical and molecular characteristics.

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作者： Theodoros,Georgiou ^[1] ; Olga,Grafakou ^[2] ; Anna,Malekkou ^[1] ; Emilia,Athanasiou ^[3] ; Ioannis,Ioannou ^[4] ; Vivi,Choleva ^[5] ; Maria,Dionysiou ^[1] ; Gabriella,Mavrikiou ^[1] ; Anthi,Demetriadou ^[1] ; Violetta,Anastasiadou ^[3] ; Anthi,Drousiotou ^[1] ; Petros P,Petrou ^[1]

作者单位： Biochemical Genetics Department, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus. ^[1] Inborn Errors of Metabolism Clinic, Archbishop Makarios III Hospital, Nicosia, Cyprus. ^[2] Clinical Genetics Department, Archbishop Makarios III Hospital, Nicosia, Cyprus. ^[3] Paediatric Neurology Clinic, Archbishop Makarios III Hospital, Nicosia, Cyprus. ^[4] Ophthalmology Clinic, Archbishop Makarios III Hospital, Nicosia, Cyprus. ^[5]

关键词 CblC Cobalamin Homocystinuria Methylmalonic aciduria

DOI 10.1016/j.ymgmr.2024.101158

PMID 39584041

发布时间 2024-11-26

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Molecular genetics and metabolism reports

2024年41卷

101158页

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A case series of Cypriot patients with CblC defect: Clinical, biochemical and molecular characteristics.

Molecular genetics and metabolism reports

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Molecular genetics and metabolism reports

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A case series of Cypriot patients with CblC defect: Clinical, biochemical and molecular characteristics.

Molecular genetics and metabolism reports

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Molecular genetics and metabolism reports

相关期刊

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