Dimitar Gavrilov - Department of Laboratory Medicine and Pathology, Mayo Clinic

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论文共 144 篇作者统计合作学者相似作者

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P027: Urine Organic Acid Analysis As a Potential Screening Test for Aromatic L-amino Acid Decarboxylase Deficiency: A Retrospective Investigation

Zinandre Stander,William Laxen,Perry Loken,Amy White,Patricia Hall,Matthew Schultz,Dimitar Gavrilov,Dietrich Matern,Devin Oglesbee,Silvia Tortorelli

Genetics in Medicine Open (2024): 100904

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P004: Urine Polyols for Diagnosis of Sorbitol Dehydrogenase (SORD) Deficiency-Related Peripheral Neuropathy*

Amy White, Jordan Bontrager,William Laxen,Perry Loken,Tiffany Grider, Josef Alawneh,Vincent Carson,Emily Lauer,Angela Pickart,Zhiyv Niu,Devin Oglesbee,Dimitar Gavrilov,

Genetics in Medicine Open (2024): 100881

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P003: Clinical Laboratory Experience of Frataxin Quantification in Blood for the Diagnosis of Friedreich Ataxia*

Iris Pantovich,Amy White,April Studinski,Weiyi Mu, Bonnie Kaas,Matthew Bower,Gisele Pino,Dawn Peck,Kyle Salsbery,Emily Lauer,Angela Pickart,Kandelaria Rumilla,

Genetics in Medicine Open (2024): 100880

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Sensitivity of Transferrin Isoform Analysis for PMM2-CDG

Patrica L. Hall, Kris Liedke,Coleman Turgeon,Amy White, Gesele Bentz Pino,Dawn Peck,April Studinski,Dimitar Gavrilov, Silvia Tortorelli, Devin Oglesbee,Dietrich Matern, Kimiyo Raymond,

Molecular Genetics and Metabolismno. 1-2 (2024): 108564-108564

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Pre-analytic Decrease of Phenylalanine in Plasma of Patients with Phenylketonuria Treated with Pegvaliase

Coleman Turgeon,Kari Casas, Ryan Flanagan,Amy White,Dawn Peck,Gisele Bentz Pino,April Studinski Jones,Dimitar Gavrilov,Devin Oglesbee,Matthew J. Schultz,Silvia Tortorelli,Dietrich Matern,

MOLECULAR GENETICS AND METABOLISM REPORTS (2024)

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In Support of Transferrin Testing for PMM2-CDG: the Experience at a Reference Laboratory

Dayebgadoh Gerald,Dietrich Matern,Devin Oglesbee,Matthew Schultz,Patricia Hall,Dimitar Gavrilov,Silvia Tortorelli,Amy White,Dawn Peck,April Studinski,Gisele Pino,Coleman Turgeon,

Molecular Genetics and Metabolismno. 4 (2024): 108283-108283

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O37: Elucidating the Metabolic Signature of Krabbe Disease in Plasma Using Untargeted Metabolomics

Rachel Wurth,Coleman Turgeon,Zinandre Stander,Dietrich Matern,Amy White,Dimitar Gavrilov,Patricia Hall,Matthew Schultz,Silvia Tortorelli,Devin Oglesbee

Genetics in Medicine Open (2024): 100876

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Porphyria Diagnostic Yield and Testing Experience: Where Biochemical and Molecular Testing Intersect

Elizabeth Selner,Dawn Peck,Matthew Schultz,Devin Oglesbee,Kyle Salsbery,Patricia Hall,Dimitar Gavrilov,Silvia Tortorelli

Molecular Genetics and Metabolismno. 4 (2024): 108292-108292

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SLC6A8 Creatine Transporter Deficiency Can Be Detected by Plasma Creatine and Creatinine Concentrations

Karen Sanders,Dawn Peck,Gisele Bentz Pino,April Studinski Jones,Amy White,Dimitar Gavrilov,Dietrich Matern,Devin Oglesbee,Matthew Schultz,Silvia Tortorelli,Patricia L. Hall

MOLECULAR GENETICS AND METABOLISMno. 1 (2024)

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The G78D Variant in IDUA – a Potential Hypomorphic Variant Not Associated with Severe MPS I

Dawn Peck,Patricia Hall,J. Austin Hamm,Randi Gadea,Bryce Heese,Maria Laura Duque Lasio,Linda Manwaring,Gisele Pino,April Studinski,Amy White,Dimitar Gavrilov,Dietrich Matern,

Molecular Genetics and Metabolismno. 4 (2024): 108339-108339

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