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8-year retrospective analysis of intravenous arginine therapy for acute metabolic strokes in pediatric mitochondrial disease

Molecular genetics and metabolism, 2018-03, Vol.123 (3), p.301-308

2018

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Congenital Hypermetabolism and Uncoupled Oxidative Phosphorylation

The New England journal of medicine, 2022-10, Vol.387 (15), p.1395-1403

2022

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The future of mitochondrial medicine requires both lumping and splitting

Molecular genetics and metabolism, 2024-08, Vol.142 (4), p.108536, Article 108536

Ganetzky, Rebecca D.

2024

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Corrigendum to “Development and validation of a multiplexed LC-MS/MS ketone body assay for clinical diagnostics” [J. Mass Spectrom. Adv. Clin. Lab 31 (2024) 49–58]

Journal of mass spectrometry and advances in the clinical lab, 2024-08, Vol.33, p.21-21

2024

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Cytokine signature profiles in acquired aplastic anemia and myelodysplastic syndromes

Haematologica (Roma), 2011-04, Vol.96 (4), p.602-606

2011

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Preventative Strategies in Congenital B12 Deficiency

The Journal of pediatrics, 2021-08, Vol.235, p.19-20

Ganetzky, Rebecca D.

2021

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Development and validation of a multiplexed LC-MS/MS ketone body assay for clinical diagnostics

Journal of mass spectrometry and advances in the clinical lab, 2024-01, Vol.31, p.49-58

2024

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Hospitalizations for mitochondrial disease across the lifespan in the U.S

Molecular genetics and metabolism, 2017-06, Vol.121 (2), p.119-126

2017

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Becoming a Physician–Scientist: A View Looking Up From Base Camp

Academic medicine, 2017-10, Vol.92 (10), p.1373-1374

Ganetzky, Rebecca D

2017

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Mitochondrial medicine therapies: rationale, evidence, and dosing guidelines

Current opinion in pediatrics, 2020-12, Vol.32 (6), p.707-718

2020

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Biochemical characterization of patients with dihydrolipoamide dehydrogenase deficiency

JIMD reports, 2023-09, Vol.64 (5), p.367-374

2023

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Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature

Molecular genetics and metabolism reports, 2022-12, Vol.33, p.100931-100931, Article 100931

2022

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COXPD9 in an individual from Puerto Rico and literature review

American journal of medical genetics. Part A, 2021-08, Vol.185 (8), p.2519-2525

2021

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MT‐ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases

Human mutation, 2019-05, Vol.40 (5), p.499-515

2019

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Microvascular endothelial dysfunction in mitochondrial stroke-like episodes supports use of intravenous l-arginine

Molecular genetics and metabolism reports, 2018-06, Vol.15, p.74-74

2018

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Machine Learning for the Biochemical Genetics Laboratory

Clinical chemistry (Baltimore, Md.), 2020-09, Vol.66 (9), p.1134-1135

2020

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Methodologies in Mitochondrial Testing: Diagnosing a Primary Mitochondrial Respiratory Chain Disorder

Clinical chemistry (Baltimore, Md.), 2023-06, Vol.69 (6), p.564-582

2023

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The Importance of Succinylacetone: Tyrosinemia Type I Presenting with Hyperinsulinism and Multiorgan Failure Following Normal Newborn Screening

International journal of neonatal screening, 2020-06, Vol.6 (2), p.39

2020

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Low Plasma Citrulline Guiding the Diagnosis of a Mitochondrial Disorder

Clinical chemistry (Baltimore, Md.), 2023-06, Vol.69 (6), p.661-664

2023

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Fetal Brain MRI Abnormalities in Pyruvate Dehydrogenase Complex Deficiency

Neurology, 2024-08, Vol.103 (4), p.e209728

2024

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Prospective diagnosis of MT-ATP6-related mitochondrial disease by newborn screening

Molecular genetics and metabolism, 2021-09, Vol.134 (1-2), p.37-42

2021

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Normal Biomarkers in an Acute Presentation in a Known Case of Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Clinical chemistry (Baltimore, Md.), 2021-12, Vol.67 (12), p.1735-1737

2021

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Broadening the phenotypic spectrum of Pearson syndrome: Five new cases and a review of the literature

American journal of medical genetics. Part A, 2020-02, Vol.182 (2), p.365-373

2020

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Clinical, radiological, biochemical and molecular characterization of a new case with multiple mitochondrial dysfunction syndrome due to IBA57: Lysine and tryptophan metabolites as potential biomarkers

Molecular genetics and metabolism, 2023-09, Vol.140 (1-2), p.107710-107710, Article 107710

2023

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USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis

Human molecular genetics, 2018-10, Vol.27 (19), p.3305-3312

2018

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8-year retrospective analysis of intravenous arginine therapy for acute metabolic strokes in pediatric mitochondrial disease

Congenital Hypermetabolism and Uncoupled Oxidative Phosphorylation

The future of mitochondrial medicine requires both lumping and splitting

Corrigendum to “Development and validation of a multiplexed LC-MS/MS ketone body assay for clinical diagnostics” [J. Mass Spectrom. Adv. Clin. Lab 31 (2024) 49–58]

Cytokine signature profiles in acquired aplastic anemia and myelodysplastic syndromes

Preventative Strategies in Congenital B12 Deficiency

Development and validation of a multiplexed LC-MS/MS ketone body assay for clinical diagnostics

Hospitalizations for mitochondrial disease across the lifespan in the U.S

Becoming a Physician–Scientist: A View Looking Up From Base Camp

Mitochondrial medicine therapies: rationale, evidence, and dosing guidelines

Biochemical characterization of patients with dihydrolipoamide dehydrogenase deficiency

Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature

COXPD9 in an individual from Puerto Rico and literature review

MT‐ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases

Microvascular endothelial dysfunction in mitochondrial stroke-like episodes supports use of intravenous l-arginine

Machine Learning for the Biochemical Genetics Laboratory

Methodologies in Mitochondrial Testing: Diagnosing a Primary Mitochondrial Respiratory Chain Disorder

The Importance of Succinylacetone: Tyrosinemia Type I Presenting with Hyperinsulinism and Multiorgan Failure Following Normal Newborn Screening

Low Plasma Citrulline Guiding the Diagnosis of a Mitochondrial Disorder

Fetal Brain MRI Abnormalities in Pyruvate Dehydrogenase Complex Deficiency

Prospective diagnosis of MT-ATP6-related mitochondrial disease by newborn screening

Normal Biomarkers in an Acute Presentation in a Known Case of Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Broadening the phenotypic spectrum of Pearson syndrome: Five new cases and a review of the literature

Clinical, radiological, biochemical and molecular characterization of a new case with multiple mitochondrial dysfunction syndrome due to IBA57: Lysine and tryptophan metabolites as potential biomarkers

USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis

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