Neonatal screening for glutaryl-CoA dehydrogenase deficiency
作者： M. Lindner , S. KÖlker , A. Schulze , E. Christensen , C. R. Greenberg
DOI: 10.1023/B:BOLI.0000045769.96657.AF
关键词: Glutaryl-CoA dehydrogenase 、 Newborn screening 、 Dystonia 、 Surgery 、 Glutaric Acidemia Type 1 、 Disease 、 Pediatrics 、 Glutaric aciduria type 1 、 Mass screening 、 Macrocephaly 、 Medicine
摘要: Acute encephalopathic crisis in glutaryl‐CoA dehydrogenase deficiency results in an unfavourable disease course and poor outcome, dominated by dystonia, feeding problems, …
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sci-hub.se 参考文章(17)
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