December 2016 - 8 articles
Early diagnosis of males with X-linked adrenoleukodystrophy (X-ALD) is essential for preventing loss of life due to adrenal insufficiency and for timely therapy of the childhood cerebral form of X-ALD with hematopoietic cell transplantation. This art...
Newborn screening has revolutionized the diagnosis of many disorders, notably metabolic disorders. Whereas, formerly, a clinical presentation of developmental delay or other features led to the diagnosis, usually too late for optimal treatment, today...
Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessive genetic disorder which results in global developmental delay and intellectual disability. There is evidence that early treatment prevents intellectual disability and seizu...
The Perkin Elmer Genetic Screening Processor (GSP)™ is a fully automated system for the processing of immunoassays for thyroid stimulating hormone (TSH), 17-hydroxyprogesterone (17-OHP), immuno reactive trypsin (IRT), biotinidase, and total T4, as we...
The practice of newborn screening has been in place in the USA since the 1960s, with individual states initially screening for different numbers of disorders. In the early 2000s many efforts were made to standardize the various disorders being screen...
Urea cycle disorders (UCDs) are common inborn errors of metabolism, with an incidence of one in 30,000 births. They are caused by deficiencies in any of six enzymes and two carrier proteins, the most common being Ornithine Transcarbamylase Deficiency...
Biotinidase deficiency is an inherited metabolic disorder that, if untreated, can result in neurological and cutaneous symptoms. If treated with the vitamin biotin, individuals with the disorder can markedly improve, but still may have some irreversi...
The objective of this study was to evaluate the MBJ20® transcutaneous bilirubinonometer by Beijing M&B Electronic Instrument Co. Ltd. (Beijing, China) in the assessment of severity of neonatal jaundice. Two hundred and twenty-two paired samples f...
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