换一批Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte.
第一作者：
James D,Weisfeld-Adams
第一单位：
Program for Inherited Metabolic Diseases, Department of Genetics & Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA. james.weisfeld-adams@mssm.edu
作者：
医学主题词
算法(Algorithms);肉碱(Carnitine);人口统计学(Demography);假阳性反应(False Positive Reactions);女(雌)性(Female);随访研究(Follow-Up Studies);遗传关联研究(Genetic Association Studies);高胱氨酸尿(Homocystinuria);人类(Humans);婴儿, 新生(Infant, Newborn);男(雄)性(Male);代谢缺陷, 先天性(Metabolism, Inborn Errors);甲硫氨酸(Methionine);甲基丙二酸(Methylmalonic Acid);新生儿筛查(Neonatal Screening);纽约(New York);丙酸盐类(Propionates);转诊和会诊(Referral and Consultation);维生素B12(Vitamin B 12)
DOI
10.1016/j.ymgme.2009.09.008
PMID
19836982
发布时间
2025-05-29
基金项目
T32 GM082773/GM/NIGMS NIH HHS/United States
T32 GM082773-03/GM/NIGMS NIH HHS/United States
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