Matern D - Search Results

1

εγ-Thalassemia, a New Hemoglobinopathy Category.

Oliveira JL, Thompson CH, Saravanaperumal SA, Koganti T, Jenkinson G, Hein MS, Kohorst MA, Hasadsri L, Nguyen PL, Matern D, Kipp BR, Klee EW, Wieben ED, Hoyer JD, Rangan A. Oliveira JL, et al. Among authors: matern d. Clin Chem. 2023 Jul 5;69(7):711-717. doi: 10.1093/clinchem/hvad038. Clin Chem. 2023. PMID: 37086467

2

Identification of Decreased Butyrylcholinesterase in Sudden Infant Death Syndrome Is, at Best, a First Step Toward Preventive Screening.

Hall PL, Matern D. Hall PL, et al. Among authors: matern d. Clin Chem. 2023 Feb 1;69(2):116-117. doi: 10.1093/clinchem/hvac134. Clin Chem. 2023. PMID: 36327422 No abstract available.

3

Development of a Multiplexed Sphingolipids Method for Diagnosis of Inborn Errors of Ceramide Metabolism.

Byeon SK, Kim J, Wegwerth PJ, Zenka R, George JP, Pinto E Vairo F, Oglesbee D, Schultz MJ, Matern D, Pandey A. Byeon SK, et al. Among authors: matern d. Clin Chem. 2024 Nov 4;70(11):1366-1374. doi: 10.1093/clinchem/hvae115. Clin Chem. 2024. PMID: 39206579

4

A multiplexed targeted method for profiling of serum gangliosides and glycosphingolipids: application to GM2-gangliosidosis.

Kim J, Byeon SK, Oglesbee D, Schultz MJ, Matern D, Pandey A. Kim J, et al. Among authors: matern d. Anal Bioanal Chem. 2024 Nov;416(26):5689-5699. doi: 10.1007/s00216-024-05487-3. Epub 2024 Aug 27. Anal Bioanal Chem. 2024. PMID: 39190143 Free PMC article.

5

Incorrect laboratory test selection is common in the evaluation of alpha-gal syndrome and Fabry disease.

Bentz Pino G, Piazza A, Schultz M, Matern D, Hall PL. Bentz Pino G, et al. Among authors: matern d. J Allergy Clin Immunol Pract. 2023 Oct;11(10):3263-3264. doi: 10.1016/j.jaip.2023.06.056. Epub 2023 Jul 3. J Allergy Clin Immunol Pract. 2023. PMID: 37406808 No abstract available.

6

A new test method for biochemical analysis of plasmalogens in dried blood spots and erythrocytes from patients with peroxisomal disorders.

Wegwerth PJ, White AL, Stoway SD, Loken PR, Oglesbee D, Matern D, Tortorelli S, Raymond KM, Braverman NE, Gavrilov DK. Wegwerth PJ, et al. Among authors: matern d. J Inherit Metab Dis. 2023 Nov;46(6):1159-1169. doi: 10.1002/jimd.12682. Epub 2023 Oct 31. J Inherit Metab Dis. 2023. PMID: 37747296 Review.

7

Pre-analytic decrease of phenylalanine in plasma of patients with phenylketonuria treated with pegvaliase.

Turgeon C, Casas K, Flanagan R, White A, Peck D, Pino GB, Jones AS, Gavrilov D, Oglesbee D, Schultz MJ, Tortorelli S, Matern D, Hall PL. Turgeon C, et al. Among authors: matern d. Mol Genet Metab Rep. 2024 Jun 21;40:101110. doi: 10.1016/j.ymgmr.2024.101110. eCollection 2024 Sep. Mol Genet Metab Rep. 2024. PMID: 39022300 Free PMC article.

8

Genotype and Phenotype Correlation of the TPMT∗8 Allele in Thiopurine Metabolism.

Sterner RM, Hall PL, Matern D, Black JL, Moyer AM. Sterner RM, et al. Among authors: matern d. J Mol Diagn. 2024 Nov;26(11):988-994. doi: 10.1016/j.jmoldx.2024.07.005. Epub 2024 Aug 31. J Mol Diagn. 2024. PMID: 39182670

9

Sensitivity of transferrin isoform analysis for PMM2-CDG.

Hall PL, Liedke K, Turgeon C, White A, Pino GB, Peck D, Studinski A, Gavrilov D, Tortorelli S, Oglesbee D, Matern D, Raymond K, Schultz MJ. Hall PL, et al. Among authors: matern d. Mol Genet Metab. 2024 Sep-Oct;143(1-2):108564. doi: 10.1016/j.ymgme.2024.108564. Epub 2024 Aug 11. Mol Genet Metab. 2024. PMID: 39216211

10

It's time to reconsider the newborn screening RUSP prospective pilot study "N of 1" rule.

Gelb MH, Matern D, Ellinwood M, Gaviglio A. Gelb MH, et al. Among authors: matern d. Mol Genet Metab. 2024 May;142(1):108352. doi: 10.1016/j.ymgme.2024.108352. Epub 2024 Feb 24. Mol Genet Metab. 2024. PMID: 38429125 No abstract available.

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