Coleman T. Turgeon

发表

A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders

P. Rinaldo, D. Matern, J. Hopwood, 2020, International journal of neonatal screening.

Enhanced interpretation of newborn screening results without analyte cutoff values

Vagelis Papakonstantinou, Giuseppe Giordano, Yin-Hsiu Chien, 2012, Genetics in Medicine.

The Combined Impact of CLIR Post-Analytical Tools and Second Tier Testing on the Performance of Newborn Screening for Disorders of Propionate, Methionine, and Cobalamin Metabolism

P. Rinaldo, D. Matern, S. Tortorelli, 2020, International journal of neonatal screening.

Simultaneous Testing for 6 Lysosomal Storage Disorders and X-Adrenoleukodystrophy in Dried Blood Spots by Tandem Mass Spectrometry.

P. Rinaldo, D. Matern, S. Tortorelli, 2016, Clinical chemistry.

Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophy.

A. Moser, P. Rinaldo, D. Matern, 2015, Molecular genetics and metabolism.

Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method.

A. Moser, G. Raymond, D. Macaya, 2009, Molecular genetics and metabolism.

Measurement of psychosine in dried blood spots — a possible improvement to newborn screening programs for Krabbe disease

P. Rinaldo, D. Matern, S. Tortorelli, 2015, Journal of Inherited Metabolic Disease.

Determination of total homocysteine, methylmalonic acid, and 2-methylcitric acid in dried blood spots by tandem mass spectrometry.

P. Rinaldo, D. Matern, S. Tortorelli, 2010, Clinical chemistry.

Parameters of immunoglobulin extraction from dried blood spot cards and immunoassays for detection of antibody response to pathogens including the novel SARS-CoV-2

E. Galanis, D. Matern, Coleman T. Turgeon, 2021, Journal of Immunological Methods.

Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation

I. Scheffer, D. Nickerson, M. Bamshad, 2022, Journal of Medical Genetics.

Immune dysfunction in MGAT2‐CDG: A clinical report and review of the literature

Christina Lam, A. Beck, M. Schultz, 2020, American journal of medical genetics. Part A.

Bile Acid Profiles in Primary Sclerosing Cholangitis and Their Ability to Predict Hepatic Decompensation

G. Gores, T. Karlsen, Chang Hu, 2020, Hepatology.

Detection of SARS-CoV-2 IgG antibodies in dried blood spots

E. Theel, D. Matern, Karen A. Sanders, 2021, Diagnostic Microbiology and Infectious Disease.

Two-tier approach to the newborn screening of methylenetetrahydrofolate reductase deficiency and other remethylation disorders with tandem mass spectrometry.

J. Bernstein, J. Abdenur, P. Rinaldo, 2010, The Journal of pediatrics.

Combined newborn screening for succinylacetone, amino acids, and acylcarnitines in dried blood spots.

P. Rinaldo, D. Matern, S. Tortorelli, 2008, Clinical chemistry.

Validation of a multiplex flow immunoassay for detection of IgG antibodies against SARS-CoV-2 in dried blood spots

E. Theel, P. Rinaldo, D. Matern, 2021, PloS one.

The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease

M. Gelb, J. Kurtzberg, P. Rinaldo, 2020, Genetics in Medicine.

Longitudinal metabolomics in dried bloodspots yields profiles informing newborn screening for succinic semialdehyde dehydrogenase deficiency

P. Rinaldo, A. Pop, G. Salomons, 2020, JIMD reports.

The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease

M. Gelb, J. Kurtzberg, P. Rinaldo, 2020, Genetics in Medicine.

A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.

Ellen F. Macnamara, M. Westerfield, D. Earl, 2018, American journal of human genetics.

Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace Future Sequencing

Aashish N. Adhikari, R. Srinivasan, P. Kwok, 2020, International journal of neonatal screening.

Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes

T. Bottiglieri, P. Rinaldo, E. Arning, 2020, Metabolic Brain Disease.

Novel biomarkers and age-related metabolite correlations in plasma and dried blood spots from patients with succinic semialdehyde dehydrogenase deficiency

T. Bottiglieri, P. Rinaldo, P. Pearl, 2020, Orphanet Journal of Rare Diseases.

Temporal metabolomics in dried bloodspots suggests multipathway disruptions in aldh5a1-/- mice, a model of succinic semialdehyde dehydrogenase deficiency.

P. Rinaldo, J. Roullet, K. Gibson, 2019, Molecular genetics and metabolism.

A Rapid Screening Method for the Measurement of Neonatal Total Homocysteine in Dried Blood Spots by Liquid Chromatography-Tandem Mass Spectrometry

P. Rinaldo, D. Matern, L. Hassan, 2017 .

Precision newborn screening for lysosomal disorders

P. Rinaldo, D. Matern, S. Tortorelli, 2018, Genetics in Medicine.

A novel phosphoglucomutase‐deficient mouse model reveals aberrant glycosylation and early embryonic lethality

E. Morava, K. Whitehead, K. Raymond, 2019, Journal of inherited metabolic disease.

Achieving Congruence among Reference Laboratories for Absolute Abundance Measurement of Analytes for Rare Diseases: Psychosine for Diagnosis and Prognosis of Krabbe Disease

M. Gelb, D. Matern, P. Dearmond, 2020, International journal of neonatal screening.

Liquid Chromatography–Tandem Mass Spectrometry in Newborn Screening Laboratories

Y. Chien, R. Giugliani, D. Matern, 2022, International journal of neonatal screening.

Prevalence of SARS-CoV-2 Antibodies in a Multistate Academic Medical Center

Patrick W. Johnson, C. Vachon, A. Nassar, 2021, Mayo Clinic proceedings.

An evaluation of untargeted metabolomics methods to characterize inborn errors of metabolism.

D. Oglesbee, Zinandré Stander, Coleman T. Turgeon, 2023, Molecular genetics and metabolism.

Precision newborn screening for lysosomal disorders

P. Rinaldo, D. Matern, S. Tortorelli, 2017, Genetics in Medicine.