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]

Autor: Robin H.J. Kemperman, Rebecca D. Ganetzky, Stephen R. Master

Publikováno v: Journal of Mass Spectrometry and Advances in the Clinical Lab, Vol 33, Iss , Pp 21- (2024)

Externí odkaz: https://doaj.org/article/610062cc44534ff2a1c52db4874daa0c

Biochemical characterization of patients with dihydrolipoamide dehydrogenase deficiency

Autor: Parith Wongkittichote, Sanmati R. Cuddapah, Stephen R. Master, Dorothy K. Grange, Dennis Dietzen, Stephen M. Roper, Rebecca D. Ganetzky

Publikováno v: JIMD Reports, Vol 64, Iss 5, Pp 367-374 (2023)

Abstract Dihydrolipoamide dehydrogenase (DLD; E3) oxidizes lipoic acid. Restoring the oxidized state allows lipoic acid to act as a necessary electron sink for the four mitochondrial keto‐acid dehydrogenases: pyruvate dehydrogenase, alpha‐ketoglu

Externí odkaz: https://doaj.org/article/78e25699a85f48dfa105ff6dbe8a8d83

Low Plasma Citrulline Guiding the Diagnosis of a Mitochondrial Disorder

Autor: Parith Wongkittichote, Rebecca D Ganetzky, Matthew M Demczko, Xinying Hong, Miao He, Stephen R Master

Publikováno v: Clinical Chemistry. 69:661-664

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::65e54616bb8e47676f77a76359c12210
https://doi.org/10.1093/clinchem/hvad039

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

Autor: Johanna, Elander, Elizabeth M, McCormick, Maria, Värendh, Karin, Stenfeldt, Rebecca D, Ganetzky, Amy, Goldstein, Zarazuela, Zolkipli-Cunningham, Laura E, MacMullen, Rui, Xiao, Marni J, Falk, Johannes K, Ehinger

Publikováno v: Molecular Genetics and Metabolism. 137:230-238

In this retrospective cohort study of 193 consecutive subjects with primary mitochondrial disease (PMD) seen at the Children's Hospital of Philadelphia Mitochondrial Medicine Frontier Program, we assessed prevalence, severity, and time of onset of se

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e449011e98cf7871b90d41d6f4fad637
https://doi.org/10.1016/j.ymgme.2022.09.002

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

Autor: Rita Pinto-Costa, Kaining Hu, Xiangbin Ruan, Marni J. Falk, Christopher A. Walsh, Caleb Bupp, Christina Fagerberg, Charlotte Brasch-Andersen, Mónica Mendes Sousa, Lars Kjærsgaard Hansen, Pedro Brites, Cai Qi, Colleen Muraresku, Rebecca D. Ganetzky, Oana Caluseriu, Irena Feng, Dong Li, Rong Zhong, Robert Sean Hill, Jennifer E. Neil, Bowei Kang, Xiaochang Zhang, Ana Costa, Elizabeth J. Bhoj, Kristopher T. Kahle, Hakon Hakonarson

Publikováno v: Qi, C, Feng, I, Costa, A R, Pinto-Costa, R, Neil, J E, Caluseriu, O, Li, D, Ganetzky, R D, Brasch-Andersen, C, Fagerberg, C, Hansen, L K, Bupp, C, Muraresku, C C, Ruan, X, Kang, B, Hu, K, Zhong, R, Brites, P, Bhoj, E J, Hill, R S, Falk, M J, Hakonarson, H, Kahle, K T, Sousa, M M, Walsh, C A & Zhang, X 2022, ' Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 24, no. 2, pp. 319-331 . https://doi.org/10.1016/j.gim.2021.09.014
Genet Med

PURPOSE: Adducins interconnect spectrin and actin filaments to form polygonal scaffolds beneath the cell membranes, and form ring-like structures in neuronal axons. Adducins regulate mouse neural development, but their function in the human brain is

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f6b2c935fe6ca940ff920a6ec4f1391
https://doi.org/10.1016/j.gim.2021.09.014