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Updated: Sep 23, 2025

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
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Expert consensus on screening, diagnosis and treatment of multiple carboxylase deficiency

Division of Biochemistry and Metabolism, Medical Genetics Branch, Chinese Medical Association, Division of Genetics and Metabolism, Child Diseases and Health Care Branch, Chinese Association for Maternal and Child Health, Division of Genetics and Metabolism, Rare Diseases Committee of Beijing Medical Association

    Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences
    |May 16, 2022
    PubMed

    Keywords:
    Biotinidase deficiencyDiagnosis and treatmentExpert consensusHolocarboxylase synthetase deficiencyMultiple carboxylase deficiencyNeonatal screening

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