P039: Retrospective evaluation of amino acid ratios for screening and diagnostic utility for pyruvate dehydrogenase complex deficiency (PDCD) and other mitochondrial disorders (MtDs)*

P039: Retrospective evaluation of amino acid ratios for screening and diagnostic utility for pyruvate dehydrogenase complex deficiency (PDCD) and other mitochondrial disorders (MtDs)*

Bibliographic Details
Main Authors:	Anisha Verma, April Lehman, Lorna Cropcho, Danielle Black, Steven Dobrowolski, Jerry Vockley, Jirair Bedoyan
Format:	Article
Language:	English
Published:	Elsevier 2023-01-01
Series:	Genetics in Medicine Open
Online Access:	http://www.sciencedirect.com/science/article/pii/S2949774423000493

Similar Items

UMP collaborates with MTDS
by: UMP, PNC

UMP, MTDS jalin kerjasama pendidikan
by: UMP, LIB
Published: (2013)

UMP jalin kerjasama bersama MTDS
by: UMP, LIB
Published: (2013)

Inhibition of pyruvate dehydrogenase kinase by pyruvate in cultured cardiac myocytes
by: Priestman, D, et al.
Published: (1997)

The 'Mine Medical': an opportunity for preventative and primary care
by: Ewen McPhee
Published: (2023-01-01)

Pyruvate dehydrogenase and pyruvate dehydrogenase kinase expression in non small cell lung cancer and tumor-associated stroma.
by: Koukourakis, M, et al.
Published: (2005)

Pyruvate Dehydrogenase and Pyruvate Dehydrogenase Kinase Expression in Non Small Cell Lung Cancer and Tumor-Associated Stroma
by: Michael I. Koukourakis, et al.
Published: (2005-01-01)

The availability of general practice in Ireland's Mid-West Region: does the 'Inverse Care Law' still apply?
by: Petrus Jacobus Retief, et al.
Published: (2023-01-01)

'Consultas em dia': consultations at the day care center for the elderly
by: Maria João Nuno Lopes, et al.
Published: (2023-01-01)

Fatty acids and the regulation of pyruvate dehydrogenase interconversion
by: Stewart, M, et al.
Published: (1997)

Synthesis, Molecular Docking and Preliminary in-Vitro Cytotoxic Evaluation of Some Substituted Tetrahydro-naphthalene (2',3',4',6'-Tetra-O-Acetyl-β-D-Gluco/-Galactopyranosyl) Derivatives
by: Maha S. Al-Mutairi, et al.
Published: (2012-04-01)

Pyruvic Acid Production from Sucrose by <i>Escherichia coli</i> Pyruvate Dehydrogenase Variants
by: W. Chris Moxley, et al.
Published: (2023-05-01)

Pyruvate dehydrogenase as a therapeutic target for obesity cardiomyopathy
by: Lewis, A, et al.
Published: (2016)

Refining the Role of Pyruvate Dehydrogenase Kinases in Glioblastoma Development
by: Claire M. Larrieu, et al.
Published: (2022-08-01)

'COVID on Country': an innovative model safely supporting high-risk patients in Central Australia
by: Mardi Steere, et al.
Published: (2022-10-01)

Escherichia coli aceE variants coding pyruvate dehydrogenase improve the generation of pyruvate‐derived acetoin
by: W. Chris Moxley, et al.
Published: (2023-03-01)

P257: A single institution analysis of in-house whole genome sequencing within pediatric and neonatal intensive care units (The PISCES Study)
by: Peter Nelson, et al.
Published: (2023-01-01)

The Role of the Pyruvate Dehydrogenase Complex in the Development of Ischemic-Reperfusion Syndrome
by: K. A. Popov, et al.
Published: (2022-08-01)

Ketogenic diet in action: Metabolic profiling of pyruvate dehydrogenase deficiency
by: Eri Ogawa, et al.
Published: (2023-06-01)

Pyruvate Dehydrogenase Kinase as a Novel Therapeutic Target in Oncology
by: Gopinath eSutendra, et al.
Published: (2013-03-01)

Association of Phosphorylated Pyruvate Dehydrogenase with Pyruvate Kinase M2 Promotes PKM2 Stability in Response to Insulin
by: Abu Jubayer Hossain, et al.
Published: (2023-09-01)

Determining the in vivo regulation of cardiac pyruvate dehydrogenase based on label flux from hyperpolarised [1-13C]pyruvate.
by: Schroeder, M, et al.
Published: (2011)

Solution structure and characterisation of the human pyruvate dehydrogenase complex core assembly
by: Vijayakrishnan, S, et al.
Published: (2010)

Solution structure and characterisation of the human pyruvate dehydrogenase complex core assembly.
by: Vijayakrishnan, S, et al.
Published: (2010)

Pyruvate dehydrogenase kinase regulates macrophage polarization in metabolic and inflammatory diseases
by: Chenyu Li, et al.
Published: (2023-12-01)

Inhibition of Pyruvate Dehydrogenase in the Heart as an Initiating Event in the Development of Diabetic Cardiomyopathy
by: Abdallah Elnwasany, et al.
Published: (2023-03-01)

Heterogeneous Expression and Subcellular Localization of Pyruvate Dehydrogenase Complex in Prostate Cancer
by: Caroline E. Nunes-Xavier, et al.
Published: (2022-05-01)

Mechanisms of Vascular Calcification: The Pivotal Role of Pyruvate Dehydrogenase Kinase 4
by: Jaechan Leem, et al.
Published: (2016-03-01)

Modelling pyruvate dehydrogenase under hypoxia and its role in cancer metabolism
by: Filmon Eyassu, et al.
Published: (2017-01-01)

Pyruvate dehydrogenase kinase regulates vascular inflammation in atherosclerosis and increases cardiovascular risk
by: Forteza, MJ, et al.
Published: (2023)

Pyruvate Dehydrogenase Kinase Inhibition by Dichloroacetate in Melanoma Cells Unveils Metabolic Vulnerabilities
by: Jiske F. Tiersma, et al.
Published: (2022-03-01)

Targeting Endothelial Cell Metabolism by Inhibition of Pyruvate Dehydrogenase Kinase and Glutaminase-1
by: Céline A. Schoonjans, et al.
Published: (2020-10-01)

Pyruvate dehydrogenase operates as an intramolecular nitroxyl generator during macrophage metabolic reprogramming
by: Erika M. Palmieri, et al.
Published: (2023-08-01)

Fasting and Glucagon Stimulate Gene Expression of Pyruvate Dehydrogenase Kinase 4 in Chickens
by: Kazuhisa Honda, et al.
Published: (2017-10-01)

Mitochondrial Encephalomyopathy Associated with Pyruvate Dehydrogenase Complex Deficiency: Eight Clinical Cases
by: Ekaterina A. Nikolaeva, et al.
Published: (2021-03-01)

Pyruvate dehydrogenase enzyme dipstick test in traumatic brain injury: A concern
by: Wiwanitkit Viroj
Published: (2010-01-01)

The multifaceted PDCD10/CCM3 gene
by: Mariaelena Valentino, et al.
Published: (2021-11-01)

Rearrangement of mitochondrial pyruvate dehydrogenase subunit dihydrolipoamide dehydrogenase protein–protein interactions by the MDM2 ligand nutlin-3
by: Way, L, et al.
Published: (2016)

Synthesis and Properties of Annulated 2-(Azaar-2-yl)- and 2,2'-Di(azaar-2-yl)-9,9'-spirobifluorenes
by: Jing Lu Liang, et al.
Published: (2013-11-01)

Pyruvate Dehydrogenase A1 Phosphorylated by Insulin Associates with Pyruvate Kinase M2 and Induces LINC00273 through Histone Acetylation
by: Abu Jubayer Hossain, et al.
Published: (2022-05-01)