Histidinaemia: its significance in neonatal screening.
نویسندگان
چکیده
منابع مشابه
Histidinaemia: a benign metabolic disorder.
Histidinaemia is a relatively common inherited metabolic disorder with an incidence similar to phenylketonuria. This paper reports the long term outcome of patients diagnosed by newborn screening in the north west of England. Between 1966 and 1990, 108 infants were diagnosed as having histidinaemia by a regional neonatal screening programme (incidence 1:11,083). A further five children were det...
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the risk of sickle cell complications that is a common hemoglobin disorder in Southwest Iran. This study aimed at determining the incidence of Sickle Cell Disease (SCD) and other Hemoglobinopathies in newborn being at risk based on ethnic origin. Materials and Methods: In this descriptive epidemiologic study, between September 2013 and September 2015, 8363 newborn blood samples were test...
متن کاملNeonatal screening.
Introduction Though based firmly on the "old fashioned" disease of phenylketonuria, whole population blood based neonatal screening is a technique with many potential uses. Most never enter general service despite their technical feasibility, reflecting mainly the perceived balance between costs and benefits. For historical reasons there is an underlying assumption that neonatal screening shoul...
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In studies on the nature of the enzymic defect in patients with histidinaemia, an inborn error of histidine metabolism (La Du, Howell, Jacoby, Seegmiller & Zannoni, 1962), it was necessary to develop a sensitive assay procedure to measure histidine oc-deaminase (L-histidine ammonia-lyase, EC 4.3.1.3), the enzyme that converts histidine into urocanic acid. The application of this method has show...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 1973
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.48.4.325-f