C. Austin Pickens
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View article: Correction: Kuypers et al. Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide. Int. J. Neonatal Screen. 2024, 10, 82
Correction: Kuypers et al. Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide. Int. J. Neonatal Screen. 2024, 10, 82 Open
The authors wish to make the following correction to their paper published in the International Journal of Neonatal Screening [...]
View article: Beyond Targeted Newborn Screening: A Nontargeted Metabolomics Workflow to Investigate Birthweight–Metabolome Correlations
Beyond Targeted Newborn Screening: A Nontargeted Metabolomics Workflow to Investigate Birthweight–Metabolome Correlations Open
Newborn screening (NBS) is one of the United States' largest, most successful preventative public health initiatives, improving outcomes for newborns with inborn errors of metabolism. Most disorders on the Recommended Uniform Screening Pan…
View article: P560: Implementing homocysteine into first-tier mass spectrometry tests in newborn screening for detection of homocystinurias in New York State
P560: Implementing homocysteine into first-tier mass spectrometry tests in newborn screening for detection of homocystinurias in New York State Open
View article: Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide
Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide Open
In The Netherlands, newborn screening (NBS) for tyrosinemia type 1 (TT1) uses dried blood spot (DBS) succinylacetone (SUAC) as a biomarker. However, high false-positive (FP) rates and a false-negative (FN) case show that the Dutch TT1 NBS …
View article: N-Acetyltyrosine as a Biomarker of Parenteral Nutrition Administration in First-Tier Newborn Screening Assays
N-Acetyltyrosine as a Biomarker of Parenteral Nutrition Administration in First-Tier Newborn Screening Assays Open
Parenteral nutrition (PN) is a nutrient solution administered intravenously (IV) to premature babies. PN causes elevations of some amino acids in blood samples that are also biomarkers used in newborn screening (NBS). Therefore, PN status …
View article: N-Acetyltyrosine as a Biomarker of Parenteral Nutrition Administration in First-Tier Newborn Born Screening Assays
N-Acetyltyrosine as a Biomarker of Parenteral Nutrition Administration in First-Tier Newborn Born Screening Assays Open
Background: Parenteral nutrition (PN) is a nutrient solution administered intravenously (IV) to premature babies. PN causes elevations of some amino acids in blood samples that are also biomarkers used in newborn screening (NBS). Therefore…
View article: Multiplexing Iduronate-2-Sulphatase (MPS-II) into a 7-Plex Lysosomal Storage Disorder MS/MS Assay Using Cold-Induced Phase Separation
Multiplexing Iduronate-2-Sulphatase (MPS-II) into a 7-Plex Lysosomal Storage Disorder MS/MS Assay Using Cold-Induced Phase Separation Open
Mucopolysaccharidosis type II (MPS-II, Hunter syndrome, OMIM:30990) is a lysosomal storage disorder (LSD) that results in iduronate 2-sulphatase (I2S) enzyme deficiency. MPS-II was added to the Recommended Uniform Screening Panel (RUSP) in…
View article: Multiplexing Homocysteine into First-Tier Newborn Screening Mass Spectrometry Assays Using Selective Thiol Derivatization
Multiplexing Homocysteine into First-Tier Newborn Screening Mass Spectrometry Assays Using Selective Thiol Derivatization Open
Background Classical homocystinuria (HCU) results from deficient cystathionine β-synthase activity, causing elevated levels of Met and homocysteine (Hcy). Newborn screening (NBS) aims to identify HCU in pre-symptomatic newborns by assessin…
View article: Harmonization of Newborn Screening Results for Pompe Disease and Mucopolysaccharidosis Type I
Harmonization of Newborn Screening Results for Pompe Disease and Mucopolysaccharidosis Type I Open
In newborn screening, false-negative results can be disastrous, leading to disability and death, while false-positive results contribute to parental anxiety and unnecessary follow-ups. Cutoffs are set conservatively to prevent missed cases…
View article: Development of a Universal Second-Tier Newborn Screening LC–MS/MS Method for Amino Acids, Lysophosphatidylcholines, and Organic Acids
Development of a Universal Second-Tier Newborn Screening LC–MS/MS Method for Amino Acids, Lysophosphatidylcholines, and Organic Acids Open
First-tier MS-based newborn screening by flow injection analysis can have high presumptive positive rates, often due to isomeric/isobaric compounds or poor biomarker specificity. These presumptive positive samples can be analyzed by second…
View article: Combining First and Second-Tier Newborn Screening in a Single Assay Using High-Throughput Chip-Based Capillary Electrophoresis Coupled to High-Resolution Mass Spectrometry
Combining First and Second-Tier Newborn Screening in a Single Assay Using High-Throughput Chip-Based Capillary Electrophoresis Coupled to High-Resolution Mass Spectrometry Open
Background Most first-tier newborn screening (NBS) biomarkers are evaluated by a 2-min flow injection analysis coupled to tandem mass spectrometry (FIA-MS/MS) assay. The absence of separation prior to MS/MS analysis can lead to false posit…
View article: Harmonizing Newborn Screening Laboratory Proficiency Test Results Using the CDC NSQAP Reference Materials
Harmonizing Newborn Screening Laboratory Proficiency Test Results Using the CDC NSQAP Reference Materials Open
Newborn screening (NBS) laboratories cannot accurately compare mass spectrometry-derived results and cutoff values due to differences in testing methodologies. The objective of this study was to assess harmonization of laboratory proficien…
View article: Development of dried blood spot quality control materials for adenosine deaminase severe combined immunodeficiency and an LC-MS/MS method for their characterization
Development of dried blood spot quality control materials for adenosine deaminase severe combined immunodeficiency and an LC-MS/MS method for their characterization Open
View article: High resolution mass spectrometry newborn screening applications for quantitative analysis of amino acids and acylcarnitines from dried blood spots
High resolution mass spectrometry newborn screening applications for quantitative analysis of amino acids and acylcarnitines from dried blood spots Open
View article: Arachidonic acid-derived hydroxyeicosatetraenoic acids are positively associated with colon polyps in adult males: a cross-sectional study
Arachidonic acid-derived hydroxyeicosatetraenoic acids are positively associated with colon polyps in adult males: a cross-sectional study Open
View article: Quantification of fatty acid and mineral levels of selected seeds, nuts, and oils in Northern Ghana
Quantification of fatty acid and mineral levels of selected seeds, nuts, and oils in Northern Ghana Open
View article: Association of whole blood n-6 fatty acids with stunting in 2-to-6-year-old Northern Ghanaian children: A cross-sectional study
Association of whole blood n-6 fatty acids with stunting in 2-to-6-year-old Northern Ghanaian children: A cross-sectional study Open
In Northern Ghana, 33% of children are stunted due to economic disparities. Dietary fatty acids (FA) are critical for growth, but whether blood FA levels are adequate in Ghanaian children is unknown. The objective of this study was to dete…
View article: The effect of fish oil supplementation on brain DHA and EPA content and fatty acid profile in mice
The effect of fish oil supplementation on brain DHA and EPA content and fatty acid profile in mice Open
Supplementation with omega-3 (n-3) fatty acids may improve cognitive performance and protect against cognitive decline. However, changes in brain phospholipid fatty acid composition after supplementation with n-3 fatty acids are poorly des…
View article: Obesity, adipokines, and C-peptide are associated with distinct plasma phospholipid profiles in adult males, an untargeted lipidomic approach
Obesity, adipokines, and C-peptide are associated with distinct plasma phospholipid profiles in adult males, an untargeted lipidomic approach Open
Obesity is associated with dysregulated lipid metabolism and adipokine secretion. Our group has previously reported obesity and adipokines are associated with % total fatty acid (FA) differences in plasma phospholipids. The objective of ou…
View article: Relationship between Body Mass Index, C-Peptide, and Delta-5-Desaturase Enzyme Activity Estimates in Adult Males
Relationship between Body Mass Index, C-Peptide, and Delta-5-Desaturase Enzyme Activity Estimates in Adult Males Open
Obesity, in particular abdominal obesity, alters the composition of plasma and tissue fatty acids (FAs), which contributes to inflammation and insulin resistance. FA metabolism is modulated by desaturases and may affect adipokine and insul…
View article: Altered Saturated and Monounsaturated Plasma Phospholipid Fatty Acid Profiles in Adult Males with Colon Adenomas
Altered Saturated and Monounsaturated Plasma Phospholipid Fatty Acid Profiles in Adult Males with Colon Adenomas Open
Background: Altered lipid metabolism and plasma fatty acid (FA) levels are associated with colorectal cancer. Obesity and elevated waist circumference (WC) increase the likelihood of developing precancerous colon adenomas. Methods: Venous …