Rebecca D Ganetzky

Marni J Falk 6 collaborations

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Stephen R Master 4 collaborations

Rebecca C Ahrens-Nicklas 3 collaborations

Elizabeth M McCormick 3 collaborations

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Can Ficicioglu 2 collaborations

Dong Li 2 collaborations

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Claudia Stendel 2 collaborations

Felix Distelmaier 2 collaborations

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Holger Prokisch 2 collaborations

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Thomas Klopstock 2 collaborations

Amy C Goldstein 2 collaborations

Jing Wang 2 collaborations

Olivier Fortin 2 collaborations

Kelsey Christoffel 2 collaborations

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Kate Cilli 2 collaborations

Jason W Schroeder 2 collaborations

Cesar Alves 2 collaborations

Jamie L Fraser 2 collaborations

Amy Goldstein 2 collaborations

Peggy W Rush 1 collaboration

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Alan M Pittman 1 collaboration

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None None 1 collaboration

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Hardik Shah 1 collaboration

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Emily L Gill 1 collaboration

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Edward Shadiack 1 collaboration

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Merav Gil Margolis 1 collaboration

Kevin Morrison 1 collaboration

Thomas Müller 1 collaboration

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Manuel Schiff 1 collaboration

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Karen Kovak 1 collaboration

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Andrew T Timberlake 1 collaboration

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Affiliations

Publications (26)

Characteristics and outcomes of patients with formiminoglutamic aciduria detected through newborn screening.

Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans.

COXPD9 in an individual from Puerto Rico and literature review.

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

Co-Occurrence of Pallister-Killian Syndrome and Burkitt Lymphoma in a Patient with Near-Normal Neurocognitive Development.

Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities.

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

Delineating

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

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

Utility of genome sequencing in exome-negative pediatric patients with neurodevelopmental phenotypes.

Hyperornithinemia, Hyperammonemia, and Homocitrullinuria Syndrome Causing Severe Neonatal Hyperammonemia.

Congenital Hypermetabolism and Uncoupled Oxidative Phosphorylation.

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

Fetal Brain MRI Abnormalities in Pyruvate Dehydrogenase Complex Deficiency.

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

Mitochondrial medicine therapies: rationale, evidence, and dosing guidelines.

Characteristic Fetal Brain MRI Abnormalities in Pyruvate Dehydrogenase Complex Deficiency.

Prenatal molecular diagnosis of pyruvate dehydrogenase complex deficiency enables rapid initiation of ketogenic diet.

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].

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

Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease.

Pathogenic mtDNA variants, in particular single large-scale mtDNA deletions, are strongly associated with post-lingual onset sensorineural hearing loss in primary mitochondrial disease.

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.

Biochemical characterization of patients with dihydrolipoamide dehydrogenase deficiency.

Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene

Réseau de co-auteurs