Newborn Metabolic Screening - Neonatal Disorders

Relevant Publications

Closing the gap: An urgent need for newborn screening of organic acid disorders in developing countries.

Issue Release: 2024

Exploratory Untargeted Metabolomics of Dried Blood Spot Samples from Newborns with Maple Syrup Urine Disease.

Issue Release: 2024

Genetic counseling access and service delivery in New York State is variable for parents of infants with complex CFTR genotypes conferring uncertain phenotypes.

Issue Release: 2024

Computational structural genomics and clinical evidence suggest BCKDK gain-of-function may cause a potentially asymptomatic maple syrup urine disease phenotype.

Issue Release: 2024

Landscape Analysis of Neurodevelopmental Comorbidities in Newborn Screening Conditions: Challenges and Opportunities.

Issue Release: 2024

Quantification of derivatized phenylalanine and tyrosine in dried blood spots using liquid chromatography with tandem spectrometry for newborn screening of phenylketonuria.

Issue Release: 2024

Selective screening for inherited metabolic disorders in a tertiary care hospital of Karachi - A retrospective chart review.

Issue Release: 2024

Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias.

Issue Release: 2024

Next-generation sequencing based newborn screening and comparative analysis with MS/MS.

Issue Release: 2024

Pseudo-Bartter syndrome as the initial presentation of cystic fibrosis in children: an important diagnosis not to be missed.

Issue Release: 2024

Expanded Newborn Screening for Inborn Errors of Metabolism in Hong Kong: Results and Outcome of a 7 Year Journey.

Issue Release: 2024

Newborn screening for lipid disorders.

Issue Release: 2024

Exploration of clinical and ethical issues in an expanded newborn metabolic screening programme: a qualitative interview study of healthcare professionals in Hong Kong.

Issue Release: 2024

Charting the Course: Towards a Comprehensive Newborn Screening Program in India.

Issue Release: 2024

Cystic fibrosis year in review 2023.

Issue Release: 2024

The Open SprayBot: A high-throughput paper spray mass spectrometry platform for disease screening.

Issue Release: 2024

Navigating phenylketonuria management to improve it in Latin America: a systematic literature review and applicability analysis.

Issue Release: 2024

Clinical, biochemical and genetic characteristics and long-term follow-up of five patients with malonyl-CoA decarboxylase deficiency.

Issue Release: 2024

Rapid Fingerprinting of Urinary Volatile Metabolites and Point-of-Care Diagnosis of Phenylketonuria on a Patterned Nanorod Sensor Array with Multiplexed Surface-Enhanced Raman Scattering Readouts.

Issue Release: 2024

Diagnostic Transitions of Cystic Fibrosis and Related Metabolic Syndrome Compared After 12 Years of Newborn Screening in California.

Issue Release: 2024

What are the Benefits of EFM?

How Does NDSS Promote Early Intervention?

What is Pediatric Malignancy?

What is the Role of Speed in Vaccination Programs?

Why is Contaminated Water a Concern in Pediatrics?

When is Salmeterol Indicated in Pediatrics?

What are Hypoallergenic Formulas?

Why is Hematocrit Important in Pediatrics?

What Role Do Antioxidants Play in Managing Oxidative Stress?

What Are the Symptoms of Dry Skin?

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