[HTML][HTML] Phenylalanine hydroxylase deficiency treatment and management: a systematic evidence review of the American College of Medical Genetics and Genomics …
AD Adams, MÓ Fiesco-Roa, L Wong, GP Jenkins… - Genetics in …, 2023 - Elsevier
Abstract Purpose Elevated serum phenylalanine (Phe) levels due to biallelic pathogenic
variants in phenylalanine hydroxylase (PAH) may cause neurodevelopmental disorders or …
variants in phenylalanine hydroxylase (PAH) may cause neurodevelopmental disorders or …
Need and challenges in establishing newborn screening programs for inherited metabolic disorders in developing countries
Even in this post genomic era, no national level newborn screening (NBS) programs for
inborn errors of metabolism (IEMs) are yet available in several developing countries …
inborn errors of metabolism (IEMs) are yet available in several developing countries …
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 …
Reference Intervals of Serum TSH from Mixed Distributions Using Truncation Points and the Kolmogorov-Smirnov Distance.
Background: Serum TSH reference intervals (RIs) are methodology, population, and age
specific. However, the ethical and practical challenges restrict the establishment of pediatric …
specific. However, the ethical and practical challenges restrict the establishment of pediatric …
[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 …
High levels of blood glutamic acid and ornithine in children with intellectual disability
Objectives: Aminoacidopathies are inborn errors of metabolism (IEMs) that cause intellectual
disability in children. Luckily, aminoacidopathies are potentially treatable, if diagnosed …
disability in children. Luckily, aminoacidopathies are potentially treatable, if diagnosed …
[HTML][HTML] Initiating Newborn Screening for Metabolic Disorders in Pakistan: A Qualitative Study of the Early Challenges and Opportunities
In multiple countries, newborn screening (NBS) initiatives have provided prevalence insights
for inborn errors of metabolism (IEM), but Pakistan lacks such data. Few reports exist on IEM …
for inborn errors of metabolism (IEM), but Pakistan lacks such data. Few reports exist on IEM …