منابع مشابه
Inherited Disorders of Intermediary Metabolism
■ Abstract This review is intended to serve as a practical guide for geneticists to current applications of tandem mass spectrometry to newborn screening. By making dried-blood spot analysis more sensitive, specific, reliable, and inclusive, tandem mass spectrometry has improved the newborn detection of inborn errors of metabolism. Its innate ability to detect and quantify multiple analytes fro...
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OBJECTIVE To review the pathophysiology, evaluation, management, and outcomes of children with inherited disorders of surfactant metabolism due to mutations in the genes encoding surfactant proteins-B or -C (SFTPB, SFTPC), ATP binding cassette member A3 (ABCA3), and thyroid transcription factor (NKX2.1). DATA SOURCES Review of the literature, previous work from the author's and collaborators'...
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Two general conclusions are warranted as to the sulphur metabolism and nutrition in animals. The first is that although most of the sulphur taken into the system is in the reduced form, that is, mainly as cystine or possibly also as cysteine, nevertheless the main end product of normal sulphur metabolism is the completely oxidized sulphate form. This is well established by numerous investigatio...
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Deficiencies of coagulation factors other than factor VIII and factor IX that cause bleeding disorders are inherited as autosomal recessive traits and are rare, with prevalences in the general population varying between 1 in 500 000 and 1 in 2 million for the homozygous forms. As a consequence of the rarity of these deficiencies, the type and severity of bleeding symptoms, the underlying molecu...
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Inherited hyperuricemic disorders fall into two major classes, metabolic overproduction of purines and renal tubular undersecretion. The aim was to explore both. Methodology was a combination of personal experience and review of relevant literature. The overproduction of hyperuricemias result from deficiency of hypoxanthine-guanine phosphoribosyl transferase, overactivity of phosphoribosylpyrop...
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ژورنال
عنوان ژورنال: Archives of Internal Medicine
سال: 1972
ISSN: 0003-9926
DOI: 10.1001/archinte.1972.03650050115040