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April N. Lehman

Observed names: April Lehman, April N Lehman, Lehman, April
ORCID: 0009-0007-8543-4033
Observed ORCID: 0009-0007-8543-4033
OpenAlex ID: A5051016283
Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospects
2020 · Jirair K. Bedoyan, Rosemary Hage, et al. · JIMD Reports · 18
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Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes
2022 · Nuno Maia, Nekane Ibarluzea, et al. · American Journal of Medical Genetics Part A · 6
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The clinical utility of functional testing in fibroblasts to diagnose primary mitochondrial disease
2026 · Johan L.K. Van Hove, Marisa W. Friederich, et al. · medRxiv · 1
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Consensus Guidelines for Diagnosis and Management of Pyruvate Dehydrogenase Complex Deficiency
2026 · Nandaki Keshavan, Julia Neugebauer, et al. · Journal of Inherited Metabolic Disease
Comprehensive functional testing in fibroblasts has strong utility to diagnose mitochondrial disease
2026 · Johan L K Van Hove, Marisa W Friederich, et al. · EMBO Molecular Medicine
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De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder
2025 · Iftekhar A. Showpnil, Allison Daley, et al. · American Journal of Medical Genetics Part A
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Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other disorders associated with lactic acidosis
2021 · Jirair Bedoyan, Rosemary Hage, et al. · Molecular Genetics and Metabolism
Works count: 8
Citation count: 25
H-index: 2
I10-index: 1
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