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Milder Form of Cobalamin C Disease May Be Missed by Newborn Screening: The Importance of Methylmalonic Acid Assessment.

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第一作者： Francesca,Nardecchia

第一单位： Unit of Child Neurology and Psychiatry, Department of Human Neuroscience, Sapienza University of Rome, Via dei Sabelli 108, 00141 Rome, Italy.

作者： Francesca,Nardecchia ^[1] ; Agnese,De Giorgi ^[1] ; Silvia,Santagata ^[2] ; Teresa,Giovanniello ^[2] ; Manuela,Tolve ^[2] ; Antonio,Angeloni ^[3] ; Vincenzo,Leuzzi ^[1] ; Francesco,Pisani ^[1] ; Claudia,Carducci ^[3]

作者单位： Unit of Child Neurology and Psychiatry, Department of Human Neuroscience, Sapienza University of Rome, Via dei Sabelli 108, 00141 Rome, Italy. ^[1] Unit of Clinical Pathology, Policlinico Umberto I University Hospital, 00161 Rome, Italy. ^[2] Department of Experimental Medicine, Sapienza University of Rome, 00185 Rome, Italy. ^[3]

关键词 CblC defect late-onset methylmalonic acid newborn screening propionylcarnitine second-tier test

DOI 10.3390/ijns11030077

PMID 40981307

发布时间 2025-09-25

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International journal of neonatal screening

2025年11卷3期

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International journal of neonatal screening

2025年11卷3期

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Milder Form of Cobalamin C Disease May Be Missed by Newborn Screening: The Importance of Methylmalonic Acid Assessment.

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Milder Form of Cobalamin C Disease May Be Missed by Newborn Screening: The Importance of Methylmalonic Acid Assessment.

International journal of neonatal screening

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