Jirair K. Bedoyan

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论文共 65 篇作者统计合作学者相似作者

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A Novel GK Ala469Val Variant Resulting in Glycerol Kinase Deficiency with Concurrent Hepatoblastoma: A Case Report

Domenic Filingeri,Sarah Mackey, Haley Soller, Alissa Guarneri-Tragone,James Cooper,Oscar Escobar,Jirair K. Bedoyan

Molecular Genetics and Metabolism Reports (2024): 101058-101058

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Are Asymptomatic Carriers of OTC Deficiency Always Asymptomatic? A Multicentric Retrospective Study of Risk Using the UCDC Longitudinal Study Database

Kuntal Sen,Rima Izem,Yuelin Long,Jiji Jiang,Laura Konczal,Robert McCarter,Andrea Gropman,Jirair Bedoyan

Molecular Genetics & Genomic Medicineno. 4 (2024)

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Demonstration of Nuclease-Free Genome Editing (generide™) in Pediatric Patients with Methylmalonic Acidemia

Marie Payton, Thomas Morgan,Jirair K. Bedoyan,Angela Sun,Hong Li, Daniel Gruskin,Mark A. Kay, Frederic Chereau,Jerry Vockley

MOLECULAR THERAPYno. 4 (2024): 80-81

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Amino Acid Ratio Combinations As Biomarkers for Discriminating Patients with Pyruvate Dehydrogenase Complex Deficiency from Other Inborn Errors of Metabolism

Anisha Verma,April N. Lehman,Hatice Gokcan,Lorna Cropcho,Danielle Black,Steven F. Dobrowolski,Jerry Vockley,Jirair K. Bedoyan

MOLECULAR GENETICS & GENOMIC MEDICINE（2024）

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Kidney Replacement Therapy and Mortality in Children with Inborn Errors of Metabolism: A Meta-analysis

Rupesh Raina,Kush Doshi,Sidharth Sethi, Bryce Pember, Rohan Kumar,Khalid A. Alhasan,Mitchell C. Boshkos,Abhishek Tibrewal,Jirair K. Bedoyan

Kidney Medicineno. 1 (2023): 100751-100751

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PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY, A MITOCHONDRIAL NEUROMETABOLIC DISORDER OF ENERGY DEFICIT IN NEED OF A GENE-SPECIFIC TARGET-BASED SMALL MOLECULE THERAPY: OUR APPROACH

Jirair Bedoyan,Hatice Gokcan, Polina Avdiunina, Robert Hannan,Olexandr Isayev

MOLECULAR GENETICS AND METABOLISM（2023）

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ECHS1 DEFICIENCY PRESENTING AS LETHAL NEONATAL LACTIC ACIDOSIS COMPLICATED BY INTRAUTERINE GROWTH RESTRICTION AND HYPOXIC-ISCHEMIC ENCEPHALOPATHY

Mari Mori,Caterina Abdala Villa,Michael Zinsmeister,Melissa Hutchinson,Jirair Bedoyan,Miriam Conces,Diana Thomas,Ahmed Osman,Dennis Bartholomew

MOLECULAR GENETICS AND METABOLISM（2023）

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P257: A Single Institution Analysis of In-House Whole Genome Sequencing Within Pediatric and Neonatal Intensive Care Units (the PISCES Study)

Peter Nelson,Cate Walsh Vockley,Georgianne Arnold,Jirair Bedoyan, Amina Kunovac,Lindsey Kelly, Dara Kozak,Alexander Yatsenko,Jennifer Atkinson,Adrian Lee,Daniel Bellissimo,Jerry Vockley,Lina Ghaloul-Gonzalez

Genetics in Medicine Openno. 1 (2023): 100285-100285

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Clinical, Biochemical and Molecular Characterization of 12 Patients with Pyruvate Carboxylase Deficiency Treated with Triheptanoin

Laura Duque Lasio, Angela C. Leshinski,Nicole H. Ducich,Leigh Anne Flore,April Lehman,Natasha Shur,Parul B. Jayakar,Bryan E. Hainline,Alice A. Basinger, William G. Wilson,George A. Diaz,Richard W. Erbe,Dwight D. Koeberl,Jerry Vockley,Jirair K. Bedoyan

MOLECULAR GENETICS AND METABOLISMno. 2 (2023)

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P039: Retrospective Evaluation of Amino Acid Ratios for Screening and Diagnostic Utility for Pyruvate Dehydrogenase Complex Deficiency (PDCD) and Other Mitochondrial Disorders (Mtds)*

April Lehman,Anisha Verma,Lorna Cropcho,Danielle Black,Steven Dobrowolski,Jerry Vockley,Jirair Bedoyan

Genetics in Medicine Open（2023）

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论文共 65 篇作者统计合作学者相似作者