Inborn errors of metabolism: Historical perspectives to contemporary management
There are many different genetic diseases called inborn errors of metabolism (IEM) which
result from defective enzymes in the metabolic pathway. As a result, these defects either …
result from defective enzymes in the metabolic pathway. As a result, these defects either …
Trends of congenital hypothyroidism and inborn errors of metabolism in Pakistan
S Mansoor - Orphanet Journal of Rare Diseases, 2020 - Springer
Background Metabolic disorders are heterogeneous group of genetic disorders that are
responsible for significant neonatal and infant morbidity and mortality worldwide. In …
responsible for significant neonatal and infant morbidity and mortality worldwide. In …
Metabolomics of a neonatal cohort from the Alliance for Maternal and Newborn Health Improvement biorepository: Effect of preanalytical variables on reference …
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 …
effect of preanalytical variables on Dried blood spot (DBS)-amino acids, acylcarnitines and …
[HTML][HTML] Utilizing augmented artificial intelligence for aminoacidopathies using collaborative laboratory integrated reporting-A cross-sectional study
Introduction Plasma amino acids profiling can aid in the screening and diagnosis of
aminoacidopathies. The goal of the current study was to analyze and report the metabolic …
aminoacidopathies. The goal of the current study was to analyze and report the metabolic …
[HTML][HTML] Selective screening for inherited metabolic disorders in a tertiary care hospital of Karachi–A retrospective chart review
F Kanani, S Shahid, D Sameer… - Pakistan Journal of …, 2024 - ncbi.nlm.nih.gov
Methods: This is a retrospective chart review of children who were selectively screened for
IMDs. Patients' records with ages ranging from birth to fourteen years of age were retrieved …
IMDs. Patients' records with ages ranging from birth to fourteen years of age were retrieved …
[HTML][HTML] Is diagnosing patients with Organic Acidurias and Aminoacidopathies enough? Conundrums of a low middle-income country
Objective: This study was done to determine the factors responsible for non-treatment of
inherited metabolic disorders (IMDs) requiring food for special medical purposes (FSMPs) in …
inherited metabolic disorders (IMDs) requiring food for special medical purposes (FSMPs) in …