An infant with hypercalcemia and hyperammonia: inborn error of metabolism or not? Questions
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منابع مشابه
Medical management and dialysis therapy for the infant with an inborn error of metabolism.
Optimal care of the neonate with hyperammonemia requires expertise in the evaluation, medical management, and decision to initiate dialytic therapy, and therefore compels expeditious collaboration between neonatal intensive care physicians, medical geneticists, and pediatric nephrologists. Neonatal and dialysis nursing expertise also is paramount for the successful provision of dialysis therapy...
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INDIAN PEDIATRICS 19 VOLUME 53__JANUARY 15, 2016 he incidence of classical galactosemia in different countries has been reported to vary from 1 in 30,000 to 1 in 75,000 [1]. The exact population incidence in India is not known as mutations and importance of GALT gene analysis in the diagnosis of galactosemia in Indian patients. The same study also revealed that the mutational profile amongst In...
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Objective: Although metabolic diseases individually are rare ,but overall have an incidence of 1/2000 and can cause devastating and irreversible effect if not diagnosed early and treated promptly. selective screening is an acceptable method for detection of these multi presentation diseases.Method: using panel neonatal screening for detection of metabolic diseases in 650 high risk Iranian patie...
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It is probable that many, if not all, of the inherited ('inborn') metabolic disturbances result from a specific enzyme defect, arising from a single abnormal gene. Examples are now known of a number of such inherited defects, some involving amino acids, which result in a block of a metabolic pathway. For example, the normal pathway for the metabolism of phenylalanine and tyrosine is by a series...
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ژورنال
عنوان ژورنال: Pediatric Nephrology
سال: 2018
ISSN: 0931-041X,1432-198X
DOI: 10.1007/s00467-018-4018-z