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Methionine and acylcarnitines in 222 amniotic fluid samples tested using LC/MS/MS.

NIAID Data Ecosystem2026-03-13 收录

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https://figshare.com/articles/dataset/Methionine_and_acylcarnitines_in_222_amniotic_fluid_samples_tested_using_LC_MS_MS_/19488355 数据链接链接失效反馈

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Methionine and acylcarnitines in 222 amniotic fluid samples tested using LC/MS/MS.

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创建时间：

2022-03-31

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This dataset supports the findings of a study on enhancing newborn screening sensitivity and specificity for missed NICCD using selected amino acids and acylcarnitines. The data include NBS results fo

DataCite Commons2024-11-08 更新60

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Additional file 2: Table S2. The captured DNA probes of the PCCA and PCCB target region.

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Table_1_Novel Compound Heterozygous Pathogenic Variants in SUOX Cause Isolated Sulfite Oxidase Deficiency in a Chinese Han Family.DOCX

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AimTo explore the clinical imaging, laboratory and genetic characteristics of a newborn boy with isolated sulfite oxidase deficiency (ISOD) in a Chinese mainland cohort. MethodsHomocysteine and uric a

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Inborn errors of metabolism (IEMs) have great repercussions in neonatal intensive care units (NICUs). However, the integrative analysis of the incidence for full-term and premature neonates of IEMs in

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Methionine and acylcarnitines in 222 amniotic fluid samples tested using LC/MS/MS.

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