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Maternal, Child Health and Neonatal Nursing Commons™
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Full-Text Articles in Maternal, Child Health and Neonatal Nursing
Metabolomics Of A Neonatal Cohort From The Alliance For Maternal And Newborn Health Improvement Biorepository: Effect Of Preanalytical Variables On Reference Intervals, Lena Jafri, Aysha Habib Khan, Muhammad Ilyas, Muhammad Imran Nisar, Javairia Khalid, Hafsa Majid, Aneeta Hotwani, Fyezah Jehan
Metabolomics Of A Neonatal Cohort From The Alliance For Maternal And Newborn Health Improvement Biorepository: Effect Of Preanalytical Variables On Reference Intervals, Lena Jafri, Aysha Habib Khan, Muhammad Ilyas, Muhammad Imran Nisar, Javairia Khalid, Hafsa Majid, Aneeta Hotwani, Fyezah Jehan
Department of Pathology and Laboratory Medicine
Background: The study was conducted to determine reference interval (RI) and evaluate the effect of preanalytical variables on Dried blood spot (DBS)-amino acids, acylcarnitines and succinylacetone of neonates.
Methodology: DBS samples were collected within 48-72 hours of life. Samples were analyzed for biochemical markers on tandem mass spectrometer at the University of Iowa. Comparison of RI across various categorical variables were performed.
Results: A total of 610 reference samples were selected based on exclusion criteria; 53.2% being females. Mean gestational age (GA) of mothers at the time of delivery was 38.7±1.6 weeks; 24.5% neonates were of low birth weight and …
Glycogen Storage Diseases-Time To Flip The Outdated Diagnostic Approach Centered On Liver Biopsy With The Molecular Testing, Sibtain Ahmed, Bushra Afroze
Glycogen Storage Diseases-Time To Flip The Outdated Diagnostic Approach Centered On Liver Biopsy With The Molecular Testing, Sibtain Ahmed, Bushra Afroze
Department of Pathology and Laboratory Medicine
The glycogen storage diseases (GSDs) are a group of inherited metabolic disorders that result from a defect in any one of several enzymes required for either glycogen synthesis or glycogen degradation. The traditional diagnostic approach is based on the invasive hepatic or muscle biopsies, which are neither cost effective nor convenient. Molecular (gene testing) has emerged over the course of past few years as a robust alternative diagnostic tool, which not only confirms the diagnosis of GSDs but also clearly differentiates the types of GSDs allowing the initiation of the type-specific appropriate treatment for the particular type of GSDs. The …