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D

Dietrich Matern

Mayo Clinic College of Medicine and Science

59H指数
275论文数
1.0W被引数
收录论文 158
发表时间
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Homozygosity for a Clinically Significant GALC Haplotype Associated with Late-Infantile Krabbe Disease Detected on Newborn Screening: Implications for Clinical Management and Genetic Counseling
errInternational Journal of Neonatal Screening
IF4
err2026-07-30
err0
errOAAI
errDaniel R. Schecter; Colleen Donnelly; Amy White; Hillary Raynes; Gordon Heller; Deepa Rajan; Carlos A. Saavedra-Matiz; Joseph Orsini; Jaap-Jan Boelens; Dietrich Matern; Jaya Ganesh
err分享
err收藏
Analysis of purines and pyrimidines across biospecimens: influence of storage temperature and duration不同生物样本中嘌呤和嘧啶的分析：储存温度和时间的影响
errScientific Reports
IF3.9
err2026-05-30
err0
errOAAI
errRachel Wurth; Coleman Turgeon; Jean Lacey; Zinandré Stander; Dimitar Gavrilov; Patricia L. Hall; Dietrich Matern; Matthew Schultz; Silvia Tortorelli; Devin Oglesbee
err分享
err收藏
Biochemical genetic testing for congenital disorders of glycosylation after sequencing produces equivocal results对糖基化先天性障碍进行测序后的生化遗传学检测产生模棱两可的结果
errMolecular Genetics and Metabolism
IF3.5
err2026-05-23
err0
PREAI
errSchultz, Matthew J.; Liedtke, Kristen L.; Turgeon, Coleman T.; Matern, Dietrich; Hall, Patricia L.
err分享
err收藏
COASY-Associated Disorders as a Differential Diagnosis in Cases with Newborn Screening Results Suggestive of CPT-ICOASY相关障碍作为新生儿筛查结果提示CPT-I的鉴别诊断
errInternational Journal of Neonatal Screening
IF4
err2026-04-17
err0
errOAAI
errZinandré Stander; Amy L. White; Matthew Lynch; David Coman; Justin Rosati; Diana Bailey; Jessica Johnson; Bo Hoon Lee; ChinTo Fong; Joseph Orsini; Matthew J. Schultz; Devin Oglesbee; Dimitar Gavrilov; Dietrich Matern; Patricia L. Hall; Silvia Tortorelli
err分享
err收藏
First year review of a new urine assay to detect sialic acid disorders
errMolecular Genetics and Metabolism
IF3.5
err2026-02-03
err0
PREAI
errAmy L. White; Craig H. Seymour; April Studinski; Jenny Thies; Dawn Peck; Dietrich Matern; Matthew Schultz; Patricia Hall
err分享
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Clinical utility of untargeted urine oligosaccharide screening未靶向尿液寡糖筛查的临床应用价值
errMolecular Genetics and Metabolism
IF3.5
err2025-10-24
err0
PREAI
errGisele Bentz Pino; Marie A. Quade; Matthew J. Schultz; Amy L. White; Dawn S. Peck; April L. Studinski Jones; Dimitar K. Gavrilov; Devin Oglesbee; Silvia Tortorelli; Dietrich Matern; Patricia L. Hall
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Reduction of False-Positive Results With Biochemical Second-Tier Testing for Newborn Screening of Pompe Disease通过生化二级检测减少庞贝病新生儿筛查中的假阳性结果
errGenetics in Medicine
IF6.2
err2025-10-10
err0
PREAI
errIbrahim T. Khoja; Dawn S. Peck; Dimitar K. Gavrilov; Molly A. McPheron; Devin Oglesbee; Gisele Bentz Pino; Katie L. Sapp; Matthew J. Schultz; April L. Studinski Jones; Amy L. White; Silvia Tortorelli; Dietrich Matern; Patricia L. Hall
err分享
err收藏
Screening and Diagnosis of Lysosomal Disorders: Biochemical and Genomic Approaches溶酶体疾病的筛查与诊断：生化与基因组学方法
errJournal of Inherited Metabolic Disease
IF3.8
err2025-09-25
err0
PREAI
errMatthew J. Schultz; Patricia L. Hall; Gisele Bentz Pino; Amy L. White; Dawn S. Peck; April L. Studinski; Jenny M. Thies; Dimitar Gavrilov; Devin Oglesbee; Silvia Tortorelli; Dietrich Matern
err分享
err收藏
Two-tiered newborn screening for Infantile Krabbe disease allows for timely treatment initiation and avoids false positive results两阶段新生儿筛查可实现对婴儿克-亚二氏病的及时治疗启动，并避免假阳性结果。
errGenetics in Medicine
IF6.2
err2025-08-29
err0
PREAI
errPatricia L. Hall; Amy L. White; Dawn Peck; Gisele Pino; April Studinski; Dimitar Gavrilov; Devin Oglesbee; Matthew J. Schultz; Silvia Tortorelli; Dietrich Matern
err分享
err收藏
In memoriam: Stephen G. Kahler, MD纪念：Stephen G. Kahler, MD
errMolecular Genetics and Metabolism
IF3.5
err2025-08-05
err0
PREAI
errJohan L.K. Van Hove; Priya S. Kishnani; David S. Millington; Dietrich Matern; Ayesha Ahmad
err分享
err收藏
The impact of newborn screening on the age of patients referred for testing and with confirmed diagnoses of Pompe disease and mucopolysaccharidosis type I
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errKhoja, Ibrahim T.; Peck, Dawn; White, Amy; Studinski, April; Oglesbee, Devin; Matern, Dietrich; Gavrilov, Dimitar; Schultz, Matthew; Tortorelli, Silvia; Hall, Patricia
err分享
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Characterizing and validating the small molecule signature of Krabbe disease plasma using untargeted metabolomics analysis
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2025-02-01
err0
PREAI
errWurth, Rachel; Turgeon, Coleman; Stander, Zinandre; Matern, Dietrich; White, Amy L.; Gavrilov, Dimitar; Hall, Patricia L.; Schult, Matthew; Tortorelli, Silvia; Oglesbee, Devin
err分享
err收藏
Genotype and Phenotype Correlation of the TPMT*8 Allele in Thiopurine Metabolism
errJOURNAL OF MOLECULAR DIAGNOSTICS
IF3.4
err2024-11-01
err0
PREAI
errSterner, Rosalie M.; Hall, Patricia L.; Matern, Dietrich; Black, John L.; Moyer, Ann M.
err分享
err收藏
iPSC-Derived LCHADD Retinal Pigment Epithelial Cells Are Susceptible to Lipid Peroxidation and Rescued by Transfection of a Wildtype AAV-HADHA Vector
errINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
IF4.7
err2024-09-16
err0
errOAAI
errDevine, Tiffany; Elizondo, Gabriela; Gaston, Garen; Babcock, Shannon J.; Matern, Dietrich; Shchepinov, Mikhail S.; Pennesi, Mark E.; Harding, Cary O.; Gillingham, Melanie B.
err分享
err收藏
Sensitivity of transferrin isoform analysis for PMM2-CDG转铁蛋白异构体分析对PMM2-CDG的敏感性
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-09-01
err2
PREAI
errHall, Patrica L.; Liedke, Kris; Turgeon, Coleman; White, Amy; Pino, Gesele Bentz; Peck, Dawn; Studinski, April; Gavrilov, Dimitar; Tortorelli, Silvia; Oglesbee, Devin; Matern, Dietrich; Raymond, Kimiyo; Schultz, Matthew J.
err分享
err收藏
Development of a Multiplexed Sphingolipids Method for Diagnosis of Inborn Errors of Ceramide Metabolism开发用于诊断神经酰胺代谢的先天性错误的多重鞘脂方法
errCLINICAL CHEMISTRY
IF6.3
err2024-08-29
err1
errOAAI
errByeon, Seul Kee; Kim, Jinyong; Wegwerth, Peter Jared; Zenka, Roman; George, John P.; Pinto e Vairo, Filippo; Oglesbee, Devin; Schultz, Matthew J.; Matern, Dietrich; Pandey, Akhilesh
err分享
err收藏
A multiplexed targeted method for profiling of serum gangliosides and glycosphingolipids: application to GM2-gangliosidosis用于分析血清神经节苷脂和鞘糖脂的多重靶向方法: 在GM2-gangliosidosis中的应用
errANALYTICAL AND BIOANALYTICAL CHEMISTRY
IF3.8
err2024-08-27
err0
errOAAI
errKim, Jinyong; Byeon, Seul Kee; Oglesbee, Devin; Schultz, Matthew J.; Matern, Dietrich; Pandey, Akhilesh
err分享
err收藏
It's time to reconsider the newborn screening RUSP prospective pilot study N of 1 rule
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-05-01
err0
PREAI
errGelb, Michael H.; Matern, Dietrich; Ellinwood, Matthew; Gaviglio, Amy
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err收藏
SLC6A8 creatine transporter deficiency can be detected by plasma creatine and creatinine concentrations
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-05-01
err2
PREAI
errSanders, Karen; Peck, Dawn; Pino, Gisele Bentz; Jones, April Studinski; White, Amy; Gavrilov, Dimitar; Matern, Dietrich; Oglesbee, Devin; Schultz, Matthew; Tortorelli, Silvia; Hall, Patricia L.
err分享
err收藏
The G78D variant in IDUA - a potential hypomorphic variant not associated with severe MPS I
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-04-01
err0
PREAI
errPeck, Dawn; Hall, Patricia; Hamm, J. Austin; Gadea, Randi; Heese, Bryce; Lasio, Maria Laura Duque; Manwaring, Linda; Pino, Gisele; Studinski, April; White, Amy; Gavrilov, Dimitar; Matern, Dietrich; Oglesbee, Devin; Schultz, Matthew; Tortorelli, Silvia
err分享
err收藏

研究方向

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