Fariba Hemmati
Neonatology Research Center, Department of Pediatrics, Namazi Hospital, Shiraz University of Medical Sciences, Shiraz, Iran
[ 1 ] - A Classic Case of Maple Syrup Urine Disease and a Novel Mutation in the BCKDHA Gene
Background: Maple syrup urine disease (MSUD) is an inherited branched-chain amino acid metabolic disorder caused by the deficiency in the branched-chain alpha-keto acid dehydrogenase (BCKD) complex. In MSUD, elevation of the branched-chain amino acids, such as alpha-keto acid and alpha-hydroxy acid, occurs due to the BCKDC gene deficiency, appearing in the blood, urine, and cerebrospinal fluid,...
[ 2 ] - Evaluation of the Predictive Value of Umbilical Cord Serum Bilirubin Level for the Development of Subsequent Hyperbilirubinemia in Term and Late-Preterm Neonates
Background: Considering the increasing rates of early hospital discharge and kernicterus in healthy full term newborns, timely identification of neonates at risk of severe hyperbilirubinemia is of great significance. The aim of this study was to investigate the predictive value of umbilical cord serum (UCS) bilirubin level for subsequent hyperbilirubinemia. Moreover, we compared the predictive ...
[ 3 ] - Comparison of the Effects of Attachment Training for Mothers on the Behavioral Responses of Premature Infants: A Randomized Clinical Trial
Background: Premature infants are among high-risk groups in community who need to be hospitalized at intensive care units for survival and receiving basic or special care. Hospitalization at neonatal intensive care units (NICUs) unsettles the family and leads to the separation of parents from their infants. This study aimed to determine the effects of maternal attachment behaviors on the behavi...
[ 4 ] - Selective screening of 650 high risk Iranian patients for detection of inborn error of metabolism
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...
Co-Authors