Sani-Cloth Wipe Mimics Rare Enzyme Deficiency (C3-DC) on Newborn Screen
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چکیده
منابع مشابه
Sani-cloth wipe mimics rare enzyme deficiency malonic aciduria on newborn screen.
Within a 7-month period at our institution, newborn screening by tandem mass spectrometry revealed 10 cases with elevated levels of malonylcarnitine, which suggested malonic aciduria. Malonic aciduria is a rare autosomal recessive inborn error of metabolism. Confirmatory testing yielded normal results in all the newborns involved. The application of quality improvement practices dictated invest...
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Resistance to thyroid hormone is an uncommon condition. We report the clinical and laboratory findings of a case with both resistance to thyroid hormone and, a reduced capacity to produce and respond to thyroid hormone. RTH is a disorder characterized by elevated circulating thyroid hormones, state of non-suppressed pituitary TSH secretion and refractoriness to hormone action in peripheral tiss...
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ژورنال
عنوان ژورنال: American Journal of Clinical Pathology
سال: 2012
ISSN: 0002-9173,1943-7722
DOI: 10.1093/ajcp/138.suppl1.020