Publications by authors named "Gregory Enns"

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Carbonic anhydrase VA deficiency due to a novel variant.
Laura Keehan, Elizabeth Null, Lekha Chilakamarri, Christopher Carter, Chung Lee, Gregory M Enns

Mol Genet Metab Rep· December 2025

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Improving newborn screening accuracy through genome sequencing, targeted metabolomics, and machine learning.
Yuhan Xie, Gang Peng, Irina Tikhonova, Gregory Enns, Hongyu Zhao

BMC Med Genomics· November 2025

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Long-Term Efficacy and Tolerability of Pegzilarginase in Arginase 1 Deficiency: Results of Two International Multicentre Open-Label Extension Studies.
Markey McNutt, Frank Rutsch, Rossana Sanchez Russo, Serena Gasperini, Spyros Batzios, Gregory M Enns

J Inherit Metab Dis· July 2025

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Corrigendum to "Genetic Analysis and multimodal imaging confirm m.12148 T>C mitochondrial variant pathogenicity leading to multisystem dysfunction" [Molecular Genetics and Metabolism 144 (2025); 109049].
Kinsley Belle, Alexander Kreymerman, Jill L Young, Nirmal Vadgama, Marco H Ji, Gregory M Enns

Mol Genet Metab· May 2025

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Genetic analysis and multimodal imaging confirm m.12148 T > C mitochondrial variant pathogenicity leading to multisystem dysfunction.
Kinsley Belle, Alexander Kreymerman, Jill L Young, Nirmal Vadgama, Marco H Ji, Gregory M Enns

Mol Genet Metab· March 2025

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Newborn Screening for X-Linked Adrenoleukodystrophy (X-ALD): Biochemical, Molecular, and Clinical Characteristics of Other Genetic Conditions.
Carlos F Mares Beltran, Christina G Tise, Rebekah Barrick, Annie D Niehaus, Rebecca Sponberg, Gregory M Enns

Genes (Basel)· June 2024

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Efficacy and safety of pegzilarginase in arginase 1 deficiency (PEACE): a phase 3, randomized, double-blind, placebo-controlled, multi-centre trial.
Rossana Sanchez Russo, Serena Gasperini, Gillian Bubb, Linda Neuman, Leslie S Sloan, Gregory M Enns

EClinicalMedicine· February 2024

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Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation.
May Flowers, Alexa Dickson, Marcus J Miller, Elaine Spector, Gregory Mark Enns

Mol Genet Metab· November 2023

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Genetic analysis and multimodal imaging identify novel mtDNA 12148T>C leading to multisystem dysfunction with tissue-specific heteroplasmy.
Kinsley Belle, Alexander Kreymerman, Nirmal Vadgama, Marco H Ji, Sandeep Randhawa, Gregory Enns

medRxiv· November 2023

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Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial.
Amel Karaa, Enrico Bertini, Valerio Carelli, Bruce H Cohen, Gregory M Enns

Neurology· July 2023

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MT-ATP6 mitochondrial disease identified by newborn screening reveals a distinct biochemical phenotype.
Christina G Tise, Courtney P Verscaj, Bryce A Mendelsohn, Jeremy Woods, Chung U Lee, Gregory M Enns

Am J Med Genet A· June 2023

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Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Loren D M Peña, Lindsay C Burrage, Gregory M Enns, Edward D Esplin, Cary Harding

Genet Med· June 2023

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Outcomes after liver transplantation in MPV17 deficiency: A rebuttal.
Alice C Huang, Noelle H Ebel, Danielle Romero, Gregory M Enns, Carlos O Esquivel

Pediatr Transplant· May 2023

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A Phase 1 Study of Oral Vitamin D in Boys and Young Men With X-Linked Adrenoleukodystrophy.
Keith P Van Haren, Kristen Cunanan, Avni Awani, Meng Gu, Dalia Peña, Gregory M Enns

Neurol Genet· April 2023

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Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association.
Hana Alharbi, Earnest James Paul Daniel, Jenny Thies, Irene Chang, Dana L Goldner, Gregory M Enns

J Inherit Metab Dis· March 2023

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Validation of a targeted metabolomics panel for improved second-tier newborn screening.
Justin Mak, Gang Peng, Anthony Le, Neeru Gandotra, Gregory M Enns

J Inherit Metab Dis· March 2023

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Outcomes after liver transplantation in MPV17 deficiency (Navajo neurohepatopathy): A single-center case series.
Alice C Huang, Noelle H Ebel, Danielle Romero, Brock Martin, Iny Jhun, Gregory M Enns

Pediatr Transplant· August 2022

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Response to triheptanoin therapy in critically ill patients with LC-FAOD: Report of patients treated through an expanded access program.
Jerry Vockley, Gregory M Enns, Antonio Nino Ramirez, Camille L Bedrosian, Bridget Reineking

Mol Genet Metab· June 2022

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Variable clinical severity in TANGO2 deficiency: Case series and literature review.
Jennifer Schymick, Peter Leahy, Tina Cowan, Maura R Z Ruzhnikov, Ryan Gates, Gregory M Enns

Am J Med Genet A· February 2022

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Compound heterozygous variants in progressive myoclonus epilepsy.
Elizabeth A Burke, Morgan Sturgeon, Diane B Zastrow, Liliana Fernandez, Cameron Prybol, Gregory M Enns

J Neurogenet· January 2022

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Diagnostic challenges and disease management in patients with a mild Zellweger spectrum disorder phenotype.
Gregory M Enns, Zineb Ammous, Ryan W Himes, Janaina Nogueira, Sirish Palle

Mol Genet Metab· November 2021

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The Present and Future of Mitochondrial-Based Therapeutics for Eye Disease.
Marco H Ji, Alexander Kreymerman, Kinsley Belle, Benjamin K Ghiam, Stephanie R Muscat, Gregory M Enns

Transl Vis Sci Technol· July 2021

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Aicardi-Goutières syndrome may present with positive newborn screen for X-linked adrenoleukodystrophy.
Christina G Tise, Jose Andres Morales, Ariel S Lee, Frances Velez-Bartolomei, Brendan J Floyd, Gregory M Enns

Am J Med Genet A· June 2021

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Profound neonatal lactic acidosis and renal tubulopathy in a patient with glycogen storage disease type IXɑ2 secondary to a pathogenic variant in .
J Andres Morales, Christina G Tise, Amrita Narang, Paul C Grimm, Gregory M Enns

Mol Genet Metab Rep· June 2021

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