Lv51
910 积分 2022-07-08 加入
Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency
52分钟前
待确认
The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study
1小时前
已完结
Competitive, multi‐objective, and compartmented Flux Balance Analysis for addressing tissue‐specific inborn errors of metabolism
1个月前
已完结
A LC-MS/MS method to simultaneously profile 14 free monosaccharides in biofluids
2个月前
已完结
A new adsorptive 3D–printed sampling device for simultaneous determination of 63 urinary organic acids by LC–MS/MS
4个月前
已完结
Rapid Quantification of Urinary Organic Acids by HPLC Mass Spectrometry to Assess Nutritional Individuality in Chinese Children
4个月前
已完结
B-168 Development and Validation of a Quantitative Ultra-Performance Liquid Chromatography Quadrupole Time-of-Flight (UPLC-QToF) Method for Urine Organic Acid Analysis
4个月前
已关闭
Improved sensitivity and specificity for citrin deficiency using selected amino acids and acylcarnitines in the newborn screening
9个月前
已完结
Expanded Steroid Profiling Identifies Novel Newborn Screening Markers for Congenital Adrenal Hyperplasia
10个月前
已完结
Adrenoleukodystrophy: Current understanding of disease mechanisms, diagnosis, and therapeutic advances–a recent review
11个月前
已完结
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