lactic acid has been researched along with Electron Transport Chain Deficiencies, Mitochondrial in 118 studies
Lactic Acid: A normal intermediate in the fermentation (oxidation, metabolism) of sugar. The concentrated form is used internally to prevent gastrointestinal fermentation. (From Stedman, 26th ed)
2-hydroxypropanoic acid : A 2-hydroxy monocarboxylic acid that is propanoic acid in which one of the alpha-hydrogens is replaced by a hydroxy group.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Recent investigations have suggested creatine (Cr) as an additional biomarker of mitochondrial diseases." | 7.79 | Role of creatine as biomarker of mitochondrial diseases. ( Arias, A; Briones, P; García-Villoria, J; Pajares, S; Ribes, A, 2013) |
| "The combination of highly active antiretroviral therapy (HAART) plus ribavirin (RBV) in patients with human immunodeficiency virus (HIV) and hepatitis C virus (HCV) coinfection has been reported to cause mitochondrial toxicity (MT)." | 7.76 | Mitochondrial toxicity is associated with virological response in patients with HIV and hepatitis C virus coinfection treated with ribavirin and highly active antiretroviral therapy. ( Breitenecker, F; Gangl, A; Kosi, L; Maresch, J; Payer, BA; Peck-Radosavljevic, M; Reiberger, T; Rieger, A; Wrba, F, 2010) |
| "Although the blood lactate-to-pyruvate (L:P) molar ratio is used to distinguish between pyruvate dehydrogenase deficiency (PDH-D) and other causes of congenital lactic acidosis (CLA), its diagnostic accuracy for differentiating between these 2 types of CLA has not been evaluated formally." | 7.74 | Diagnostic accuracy of blood lactate-to-pyruvate molar ratio in the differential diagnosis of congenital lactic acidosis. ( Allard, P; Debray, FG; Hanley, JA; Lambert, M; Mitchell, GA; Robinson, BH, 2007) |
| "Hyperornithinemia, hyperammonemia, and homocitrullinuria (HHH) syndrome is caused by mutations in the SLC25A15 (ORNT1) gene encoding the mitochondrial ornithine transporter, but the mechanism of pathogenesis of the encephalopathy, spastic paraparesis and hepatopathy remains undetermined." | 7.72 | Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family. ( Abu-Libdeh, B; Gutman, A; Kanazawa, N; Korman, SH; Tsujino, S, 2004) |
| " Other mitochondrial diseases are characterized by focal brain lesions, which is a core feature of MELAS syndrome (mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes)." | 5.41 | Neuroimaging in mitochondrial disease. ( Distelmaier, F; Klopstock, T, 2023) |
| "Coenzyme Q10 (CoQ10) is frequently administered in mitochondrial diseases." | 5.10 | Only transient increase of serum CoQ subset 10 during long-term CoQ10 therapy in mitochondrial ophthalmoplegia. ( Hanisch, F; Zierz, S, 2003) |
| " A 48-week, prospective, single-centre, exploratory, clinical study enrolled 11 Japanese adult patients with genetically, biochemically, and clinically confirmed mitochondrial disease; they had intractable lactic acidosis and received SP (0." | 3.91 | Biomarkers and clinical rating scales for sodium pyruvate therapy in patients with mitochondrial disease. ( Inoue, E; Koga, Y; Nashiki, K; Povalko, N; Tanaka, M, 2019) |
| " These data demonstrate for the first time that energy depletion may lead to lactic acidosis in the DMRC patient by reduction of lactate uptake via AMPK in liver." | 3.81 | Mitochondrial Respiratory Defect Causes Dysfunctional Lactate Turnover via AMP-activated Protein Kinase Activation in Human-induced Pluripotent Stem Cell-derived Hepatocytes. ( Choi, JH; Han, YM; Im, I; Jang, MJ; Kim, S; Lee, SH; Park, SJ; Yoo, HW, 2015) |
| "Recent investigations have suggested creatine (Cr) as an additional biomarker of mitochondrial diseases." | 3.79 | Role of creatine as biomarker of mitochondrial diseases. ( Arias, A; Briones, P; García-Villoria, J; Pajares, S; Ribes, A, 2013) |
| "The combination of highly active antiretroviral therapy (HAART) plus ribavirin (RBV) in patients with human immunodeficiency virus (HIV) and hepatitis C virus (HCV) coinfection has been reported to cause mitochondrial toxicity (MT)." | 3.76 | Mitochondrial toxicity is associated with virological response in patients with HIV and hepatitis C virus coinfection treated with ribavirin and highly active antiretroviral therapy. ( Breitenecker, F; Gangl, A; Kosi, L; Maresch, J; Payer, BA; Peck-Radosavljevic, M; Reiberger, T; Rieger, A; Wrba, F, 2010) |
| " A comparison of central nervous system signs in syndromic vs nonsyndromic mitochondrial diseases revealed significant differences in terms of headache, external ocular motility, and apnea (P < 0." | 3.76 | Clinical manifestations in children with mitochondrial diseases. ( Chen, LH; Chi, CS; Lee, HF; Lee, HJ; Tsai, CR, 2010) |
| "Lactic acidemia is one manifestation of the mitochondrial diseases caused by pathogenic mutant mitochondrial DNA (mtDNA)." | 3.76 | Lactic acidemia in the pathogenesis of mice carrying mitochondrial DNA with a deletion. ( Hayashi, J; Nakada, K; Ogasawara, E, 2010) |
| "Although the blood lactate-to-pyruvate (L:P) molar ratio is used to distinguish between pyruvate dehydrogenase deficiency (PDH-D) and other causes of congenital lactic acidosis (CLA), its diagnostic accuracy for differentiating between these 2 types of CLA has not been evaluated formally." | 3.74 | Diagnostic accuracy of blood lactate-to-pyruvate molar ratio in the differential diagnosis of congenital lactic acidosis. ( Allard, P; Debray, FG; Hanley, JA; Lambert, M; Mitchell, GA; Robinson, BH, 2007) |
| " The initial patient, and later her newborn sibling, had mildly dysmorphic features, lactic acidosis and a defect in mitochondrial respiratory complex II associated with many biochemical features of a block in fatty acid oxidation." | 3.72 | Respiratory complex II defect in siblings associated with a symptomatic secondary block in fatty acid oxidation. ( Bocian, M; Boyle, K; Gargus, JJ; Roe, CR; Roe, DS; Vianey-Saban, C, 2003) |
| "Hyperornithinemia, hyperammonemia, and homocitrullinuria (HHH) syndrome is caused by mutations in the SLC25A15 (ORNT1) gene encoding the mitochondrial ornithine transporter, but the mechanism of pathogenesis of the encephalopathy, spastic paraparesis and hepatopathy remains undetermined." | 3.72 | Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family. ( Abu-Libdeh, B; Gutman, A; Kanazawa, N; Korman, SH; Tsujino, S, 2004) |
| "We reviewed the medical records of all patients with confirmed mitochondrial diseases treated with any or all of thiamin, riboflavin, coenzyme Q, vitamin C (approximately 10 mg/kg per day) and a high-fat diet (50-60% of caloric intake) between 1997 and 2003." | 3.72 | Effect of high-dose vitamins, coenzyme Q and high-fat diet in paediatric patients with mitochondrial diseases. ( Boneh, A; Panetta, J; Smith, LJ, 2004) |
| " mtDNA depletion may contribute to lactic acidosis, steatohepatitis and liver failure." | 3.71 | Increased long-term mitochondrial toxicity in combinations of nucleoside analogue reverse-transcriptase inhibitors. ( Setzer, B; Venhoff, N; Walker, UA, 2002) |
| "Since mitochondrial disorders (MDs) can represent a diagnostic challenge for clinicians, due to their clinical and genetic heterogeneity, the identification of easily measurable biomarkers becomes a high priority." | 2.58 | Biomarkers for mitochondrial energy metabolism diseases. ( Boenzi, S; Diodato, D, 2018) |
| "Amyotrophic lateral sclerosis (ALS; Lou Gehrig's disease) is a progressive debilitating neurodegenerative disease with no cure." | 2.48 | Lactate dyscrasia: a novel explanation for amyotrophic lateral sclerosis. ( Atwood, CS; Vadakkadath Meethal, S, 2012) |
| "Similarly, mitochondrial disorders are increasingly recognized." | 2.46 | Autism and mitochondrial disease. ( Haas, RH, 2010) |
| "Mitochondrial diseases are a major category of childhood illness that produce a wide variety of symptoms and multisystemic disorders." | 2.44 | Disorders of mitochondrial function. ( Debray, FG; Lambert, M; Mitchell, GA, 2008) |
| "Lip cyanosis is an important initial symptom in LS." | 1.72 | Lip cyanosis as the first symptom of Leigh syndrome associated with mitochondrial complex I deficiency due to a compound heterozygous NDUFS1 mutation: A case report. ( Cao, L; Feng, J; Huang, W; Men, L; Sun, R; Xu, J; Xu, M; Zhao, X, 2022) |
| "Baseline respiration at the time of septic shock diagnosis was correlated with lactate (Spearman -0." | 1.72 | Association Between Hyperlactatemia, Perfusional Parameters, and Lymphocyte Mitochondrial Dysfunction in Septic Shock Patients. ( Friedman, G; Júnior, JA; Kopczynski, A; Montes, THM; Nedel, WL; Portela, LV; Rodolphi, MS; Strogulski, NR, 2022) |
| "The first pediatric case of leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) from Turkey." | 1.48 | The first pediatric case of leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) from Turkey. ( Arıcan, P; Çavuşoğlu, D; Gençpınar, P; Olgaç-Dündar, N; Özdemir, TR; Öztekin, Ö, 2018) |
| "At 3 years old, astatic myoclonic epilepsy appeared, with no response to levetiracetam." | 1.43 | Lysine Restriction and Pyridoxal Phosphate Administration in a NADK2 Patient. ( García-Villoria, J; Girós, M; Ribes, A; Ruiz, A; Torres, MA; Tort, F; Ugarteburu, O, 2016) |
| "Mitochondrial diseases are a group of energy metabolic disorders with multisystem involvements." | 1.43 | Clinical and Molecular Characteristics in 100 Chinese Pediatric Patients with m.3243A>G Mutation in Mitochondrial DNA. ( Liu, H; Liu, Y; Ma, YN; Qi, Y; Xia, CY; Zhang, YC, 2016) |
| "Inherited ataxias are a group of heterogeneous disorders in children or adults but their genetic definition remains still undetermined in almost half of the patients." | 1.43 | Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3. ( Barca, E; DiMauro, S; Granata, F; Marino, S; Montagnese, F; Musumeci, O; Nunnari, D; Peverelli, L; Quinzii, CM; Toscano, A, 2016) |
| "According to previous studies, cerebral ischemia was defined as lactate/pyruvate (LP) ratio > 30 with intracerebral pyruvate level < 70 µmol L(-1)." | 1.42 | Bedside evaluation of cerebral energy metabolism in severe community-acquired bacterial meningitis. ( Andersen, ÅB; Jacobsen, A; Larsen, L; Nielsen, TH; Nordström, CH; Poulsen, FR; Schalén, W; Schulz, M, 2015) |
| "The diagnosis of mitochondrial disorders (MDs) is occasionally difficult because patients often present with solitary, or a combination of, symptoms caused by each organ insufficiency, which may be the result of respiratory chain enzyme deficiency." | 1.42 | Growth differentiation factor 15 as a useful biomarker for mitochondrial disorders. ( Arahata, H; Fujita, Y; Fukumoto, Y; Ishii, A; Ito, M; Kakuma, T; Koga, Y; Kojima, T; Saiki, R; Tanaka, M; Yatsuga, S, 2015) |
| "High output cardiac failure is rare in MD patients and is related to myocardial abnormalities and hyperlactacidemia." | 1.40 | Refractory high output heart failure in a patient with primary mitochondrial respiratory chain disease. ( Horii, M; Kamon, D; Kawakami, R; Nakagawa, H; Nakano, T; Okayama, S; Onoue, K; Saito, Y; Sakaguchi, Y; Takemura, G; Uemura, S, 2014) |
| "Recently, the clinical spectrum of dominant optic atrophy has been extended to frequent syndromic forms, exhibiting various degrees of neurological and muscle impairments frequently found in mitochondrial diseases." | 1.38 | The human OPA1delTTAG mutation induces premature age-related systemic neurodegeneration in mouse. ( Angebault, C; Bielicki, G; Boddaert, N; Brabet, P; Cazevieille, C; Chaix, B; Delettre, C; Gueguen, N; Hamel, CP; Lenaers, G; Mausset-Bonnefont, AL; Puel, JL; Renou, JP; Reynier, P; Rigau, V; Sarzi, E; Seveno, M; Wang, J, 2012) |
| "In addition, intrauterine growth retardation (IUGR) increases the susceptibility of offspring to high-fat (HF) diet-induced metabolic syndrome." | 1.38 | Intrauterine growth retardation increases the susceptibility of pigs to high-fat diet-induced mitochondrial dysfunction in skeletal muscle. ( Chen, D; He, J; Huang, Z; Liu, J; Mao, X; Yao, Y; Yu, B; Zheng, P, 2012) |
| "Some children with mitochondrial disorders manifest only mild or intermittent elevation of lactate levels." | 1.37 | Elevated CSF-lactate is a reliable marker of mitochondrial disorders in children even after brief seizures. ( Honzík, T; Ješina, P; Magner, M; Svandová, I; Szentiványi, K; Tesařová, M; Zeman, J, 2011) |
| "The majority of children with autism (6 of 10) had complex I activity below control range values." | 1.36 | Mitochondrial dysfunction in autism. ( Giulivi, C; Hertz-Picciotto, I; Omanska-Klusek, A; Pessah, IN; Ross-Inta, C; Tassone, F; Wong, S; Zhang, YF, 2010) |
| " Multivariate analysis showed that statin dosage was independently associated with MD (OR:1." | 1.36 | Mitochondrial dysfunction induced by statin contributes to endothelial dysfunction in patients with coronary artery disease. ( Chan, HT; Dai, YL; Fong, B; Lau, CP; Lee, SW; Li, SW; Luk, TH; Siu, CW; Tam, S; Tse, HF; Yiu, KH, 2010) |
| "Mitochondrial disorders are clinically heterogeneous." | 1.35 | Mitochondrial diseases mimicking neurotransmitter defects. ( Artuch, R; Briones, P; Carrilho, I; Duarte, S; Garcia-Cazorla, A; Garesse, R; Montoya, J; Nascimento, A; Ormazabal, A; Pineda, M; Sala-Castellvi, P; Serrano, M, 2008) |
| "Mitochondrial disorders were detected by analysis of serum lactate and thymidine phosphorylase activities, brain magnetic resonance images, and muscle biopsies." | 1.35 | Frequency of mitochondrial defects in patients with chronic intestinal pseudo-obstruction. ( Amiot, A; Hatem, DC; Jardel, C; Joly, F; Lombès, A; Messing, B; Slama, A; Tchikviladzé, M, 2009) |
| "It has been suggested that the hyperphenylalaninaemia in patients with PKU reduces complex I (NADH:ubiquinone reductase) activity of the mitochondrial respiratory chain (MRC) and/or biosynthesis of coenzyme Q(10) (CoQ(10)), which acts as an electron carrier in the MRC, leading to impaired energy metabolism in the brain of patients with PKU and hence the neurological pathology." | 1.35 | Assessment of mitochondrial respiratory chain function in hyperphenylalaninaemia. ( Hargreaves, I; Kyprianou, N; Lee, P; Murphy, E, 2009) |
| "Cerebellar ataxia is known to occasionally occur in the course of mitochondrial disorders." | 1.35 | 1H MRS spectroscopy evidence of cerebellar high lactate in mitochondrial respiratory chain deficiency. ( Bahi-Buisson, N; Boddaert, N; Brami-Zylberberg, F; Brunelle, F; de Lonlay, P; Desguerre, I; Funalot, B; Lebre, AS; Munnich, A; Rio, M; Romano, S; Rötig, A; Sarzi, E; Seidenwurm, D; Valayannopoulos, V, 2008) |
| "Mitochondrial diseases are not uncommon, and may result from mutations in both nuclear and mitochondrial DNA (mtDNA)." | 1.35 | Selective elimination of mutant mitochondrial genomes as therapeutic strategy for the treatment of NARP and MILS syndromes. ( Alexeyev, MF; Bonilla, G; Pastukh, V; Shokolenko, I; Venediktova, N; Wilson, GL, 2008) |
| "A minority of cases of autism has been associated with several different organic conditions, including bioenergetic metabolism deficiency." | 1.33 | Mitochondrial dysfunction in autism spectrum disorders: a population-based study. ( Ataíde, A; Borges, L; Diogo, L; Garcia, P; Grazina, M; Marques, C; Miguel, T; Oliveira, CR; Oliveira, G; Vicente, AM, 2005) |
| "Lactic acid production was increased (by 214%, 294% and 175%, respectively)." | 1.33 | Mitochondrial toxicity of nucleoside analogues in primary human lymphocytes. ( Schlesier, M; Setzer, B; Thomas, AK; Walker, UA, 2005) |
| "Mitochondrial diseases are an important group of neurometabolic disorders in children with varied clinical presentations and diagnosis that can be difficult to confirm." | 1.33 | The significance of reduced respiratory chain enzyme activities: clinical, biochemical and radiological associations. ( Baxter, PS; Bonham, JR; Guthrie, P; Hargreaves, I; Mordekar, SR; Olpin, SE, 2006) |
| "Mitochondrial disorders are characterized by an accumulation of lactate and an insufficient oxygen extraction from blood during exercise." | 1.33 | Lactate increase and oxygen desaturation in mitochondrial disorders--evaluation of two diagnostic screening protocols. ( Deschauer, M; Hanisch, F; Müller, T; Muser, A; Zierz, S, 2006) |
| "Mitochondrial disorders are generally not associated with a clear phenotype-genotype relationship, which complicates the understanding of the disease and genetic counseling." | 1.33 | Muscle phenotype and mutation load in 51 persons with the 3243A>G mitochondrial DNA mutation. ( Frederiksen, AL; Jeppesen, TD; Olsen, DB; Schwartz, M; Vissing, J; Wibrand, F, 2006) |
| "Mitochondrial diseases are a group of inherited disorders caused by a derangement of mitochondrial respiration." | 1.32 | Proton MR spectroscopy in the diagnostic evaluation of suspected mitochondrial disease. ( Barker, PB; Crawford, TO; Lin, DD, 2003) |
| "We present the effects and adverse effects of dichloroacetate (DCA) in a girl with mitochondrial disorder." | 1.32 | [Adverse effects of dichloroacetate in a girl with mitochondrial disorder]. ( Fukumizu, M; Hanaoka, S; Hirayama, Y; Izumi, M; Kaga, M; Murayama, K; Sasaki, M; Sugai, K, 2003) |
| "In reperfusion after hemorrhagic shock, oxidative phosphorylation in myocardial mitochondria is impaired and energy production remains reduced, even after reperfusion." | 1.32 | Protective effect of urinary trypsin inhibitor on myocardial mitochondria during hemorrhagic shock and reperfusion. ( Ikeda, KM; Izumi, T; Masuda, T; Matsunaga, A; Matsuyama, N; Nagasawa, H; Noda, C; Ogura, MN; Sato, K; Shimizu, K, 2003) |
| "Bezafibrate is a hypolipidemic drug that belongs to the group of peroxisome proliferators because it binds to peroxisome proliferator-activated receptors type alpha (PPARs)." | 1.32 | Bezafibrate induces a mitochondrial derangement in human cell lines: a PPAR-independent mechanism for a peroxisome proliferator. ( Bottoni, P; Castagnola, M; De Sole, P; Giardina, B; Maggiano, N; Martorana, GE; Messana, I; Nocca, G; Scatena, R; Vincenzoni, F, 2003) |
| "Mitochondrial disorders are human genetic diseases with extremely variable clinical and genetic features." | 1.31 | Retrospective study of a large population of patients affected with mitochondrial disorders: clinical, morphological and molecular genetic evaluation. ( Adobbati, L; Battistel, A; Bordoni, A; Bresolin, N; Chiveri, L; Ciscato, P; Comi, GP; Fagiolari, G; Fortunato, F; Lamperti, C; Martinelli-Boneschi, F; Messina, S; Moggio, M; Napoli, L; Papadimitriou, A; Perini, MP; Prelle, A; Scarlato, G; Sciacco, M; Tancredi, L; Toscano, A, 2001) |
| "It is well known that some mitochondrial disorders are responsible for ischemic cerebral infarction in young patients." | 1.31 | Mitochondrial disease and stroke. ( Aguilera, I; Arenas, J; Bautista, J; Campos, Y; Chinchón, I; Fernández-López, O; García-Lozano, R; Gil-Peralta, A; Martínez-Fernández, E, 2001) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 53 (44.92) | 29.6817 |
| 2010's | 54 (45.76) | 24.3611 |
| 2020's | 11 (9.32) | 2.80 |
| Authors | Studies |
|---|---|
| Nedel, WL | 1 |
| Strogulski, NR | 1 |
| Kopczynski, A | 1 |
| Rodolphi, MS | 1 |
| Montes, THM | 1 |
| Júnior, JA | 1 |
| Friedman, G | 1 |
| Portela, LV | 1 |
| Kurihara, M | 1 |
| Sugiyama, Y | 1 |
| Tanaka, M | 5 |
| Sato, K | 2 |
| Mitsutake, A | 1 |
| Ishiura, H | 1 |
| Kubota, A | 1 |
| Sakuishi, K | 1 |
| Hayashi, T | 1 |
| Iwata, A | 1 |
| Shimizu, J | 1 |
| Murayama, K | 4 |
| Tsuji, S | 1 |
| Toda, T | 1 |
| Hiraki, N | 1 |
| Tanaka, TD | 1 |
| Yoshimura, M | 1 |
| Jean, J | 1 |
| Christodoulou, E | 1 |
| Gai, X | 1 |
| Tamrazi, B | 1 |
| Vera, M | 1 |
| Mitchell, WG | 2 |
| Schmidt, RJ | 1 |
| Men, L | 1 |
| Feng, J | 1 |
| Huang, W | 1 |
| Xu, M | 1 |
| Zhao, X | 1 |
| Sun, R | 1 |
| Xu, J | 1 |
| Cao, L | 1 |
| Morava, E | 2 |
| Oglesbee, D | 1 |
| Distelmaier, F | 1 |
| Klopstock, T | 1 |
| Rumyantseva, A | 1 |
| Motori, E | 1 |
| Trifunovic, A | 1 |
| Li, X | 1 |
| Peng, B | 1 |
| Hou, C | 1 |
| Li, J | 1 |
| Zeng, Y | 1 |
| Wu, W | 1 |
| Liao, Y | 1 |
| Tian, Y | 1 |
| Chen, WX | 1 |
| Naber, M | 1 |
| Hellebrekers, D | 1 |
| Nievelstein, RAJ | 1 |
| van Hasselt, PM | 1 |
| van Jaarsveld, RH | 1 |
| Cuppen, I | 1 |
| Oegema, R | 1 |
| Guyther, J | 1 |
| Cantwell, L | 1 |
| Juaristi, I | 1 |
| García-Martín, ML | 1 |
| Rodrigues, TB | 1 |
| Satrústegui, J | 1 |
| Llorente-Folch, I | 1 |
| Pardo, B | 1 |
| Sasaki, K | 1 |
| Sakamoto, S | 1 |
| Uchida, H | 1 |
| Narumoto, S | 1 |
| Shigeta, T | 1 |
| Fukuda, A | 1 |
| Ito, R | 1 |
| Irie, R | 1 |
| Yoshioka, T | 1 |
| Kasahara, M | 1 |
| Gupta, D | 1 |
| Singla, R | 1 |
| Mazzeo, AT | 1 |
| Schnieder, EB | 1 |
| Tandon, V | 1 |
| Kale, SS | 1 |
| Mahapatra, AK | 1 |
| Westerlund, E | 1 |
| Marelsson, SE | 1 |
| Ehinger, JK | 1 |
| Sjövall, F | 1 |
| Morota, S | 1 |
| Åsander Frostner, E | 1 |
| Oldfors, A | 1 |
| Darin, N | 1 |
| Lundgren, J | 1 |
| Hansson, MJ | 1 |
| Fellman, V | 1 |
| Elmér, E | 1 |
| Munk, M | 1 |
| Poulsen, FR | 2 |
| Larsen, L | 2 |
| Nordström, CH | 3 |
| Nielsen, TH | 3 |
| Semeraro, M | 1 |
| Boenzi, S | 2 |
| Carrozzo, R | 1 |
| Diodato, D | 2 |
| Martinelli, D | 1 |
| Olivieri, G | 1 |
| Antonetti, G | 1 |
| Sacchetti, E | 1 |
| Catesini, G | 1 |
| Rizzo, C | 1 |
| Dionisi-Vici, C | 1 |
| Kuang, H | 1 |
| Duong, A | 1 |
| Jeong, H | 1 |
| Zachos, K | 1 |
| Andreazza, AC | 1 |
| Majid, H | 1 |
| Jafri, L | 1 |
| Khan, AH | 1 |
| Ali, ZZ | 1 |
| Jamil, A | 1 |
| Yusufzai, N | 1 |
| Fatimah, M | 1 |
| Afroze, B | 1 |
| Çavuşoğlu, D | 1 |
| Olgaç-Dündar, N | 1 |
| Öztekin, Ö | 1 |
| Özdemir, TR | 1 |
| Arıcan, P | 1 |
| Gençpınar, P | 1 |
| Zhang, HY | 1 |
| Tan, XX | 1 |
| Kang, K | 1 |
| Wang, W | 1 |
| Lian, KQ | 1 |
| Kang, WJ | 1 |
| Takahashi, Y | 1 |
| Kioka, H | 1 |
| Shintani, Y | 1 |
| Ohki, A | 1 |
| Takashima, S | 1 |
| Sakata, Y | 1 |
| Higuchi, T | 1 |
| Saito, S | 1 |
| Koga, Y | 4 |
| Povalko, N | 1 |
| Inoue, E | 1 |
| Nashiki, K | 1 |
| Niemi, AK | 1 |
| Chock, VY | 1 |
| Guitart, T | 1 |
| Picchioni, D | 1 |
| Piñeyro, D | 1 |
| Ribas de Pouplana, L | 1 |
| Karami-Mohajeri, S | 1 |
| Hadian, MR | 1 |
| Fouladdel, S | 1 |
| Azizi, E | 1 |
| Ghahramani, MH | 1 |
| Hosseini, R | 1 |
| Abdollahi, M | 1 |
| Guevara-Campos, J | 1 |
| González-Guevara, L | 1 |
| Puig-Alcaraz, C | 1 |
| Cauli, O | 1 |
| Nakagawa, H | 1 |
| Okayama, S | 1 |
| Kamon, D | 1 |
| Nakano, T | 1 |
| Onoue, K | 1 |
| Kawakami, R | 1 |
| Horii, M | 1 |
| Sakaguchi, Y | 1 |
| Uemura, S | 1 |
| Takemura, G | 1 |
| Saito, Y | 1 |
| Goh, S | 2 |
| Dong, Z | 2 |
| Zhang, Y | 1 |
| DiMauro, S | 2 |
| Peterson, BS | 2 |
| Fujii, T | 1 |
| Nozaki, F | 1 |
| Saito, K | 1 |
| Hayashi, A | 1 |
| Nishigaki, Y | 2 |
| Hiejima, I | 1 |
| Kumada, T | 1 |
| Schulz, M | 1 |
| Jacobsen, A | 1 |
| Andersen, ÅB | 1 |
| Schalén, W | 1 |
| Dager, SR | 1 |
| Corrigan, NM | 1 |
| Shaw, DW | 2 |
| Yatsuga, S | 1 |
| Fujita, Y | 1 |
| Ishii, A | 1 |
| Fukumoto, Y | 1 |
| Arahata, H | 1 |
| Kakuma, T | 1 |
| Kojima, T | 1 |
| Ito, M | 1 |
| Saiki, R | 1 |
| Im, I | 1 |
| Jang, MJ | 1 |
| Park, SJ | 1 |
| Lee, SH | 1 |
| Choi, JH | 1 |
| Yoo, HW | 1 |
| Kim, S | 1 |
| Han, YM | 1 |
| Roe, CR | 2 |
| Brunengraber, H | 1 |
| Barca, E | 1 |
| Musumeci, O | 1 |
| Montagnese, F | 1 |
| Marino, S | 1 |
| Granata, F | 1 |
| Nunnari, D | 1 |
| Peverelli, L | 1 |
| Quinzii, CM | 1 |
| Toscano, A | 2 |
| Lunsing, RJ | 1 |
| Strating, K | 1 |
| de Koning, TJ | 1 |
| Sijens, PE | 1 |
| Lovadi, E | 1 |
| Csereklyei, M | 1 |
| Merkli, H | 1 |
| FüLöp, K | 1 |
| Sebők, Á | 1 |
| Karcagi, V | 1 |
| Komoly, S | 1 |
| Pál, E | 1 |
| Xia, CY | 1 |
| Liu, Y | 1 |
| Liu, H | 1 |
| Zhang, YC | 1 |
| Ma, YN | 1 |
| Qi, Y | 1 |
| Sellars, EA | 1 |
| Balmakund, T | 1 |
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| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| Continuous Monitoring of Cerebral Metabolic State. Combined Intracerebral and Jugular Bulb Microdialysis in Neurocritical Care.[NCT03314779] | 12 participants (Actual) | Observational | 2017-08-28 | Completed | |||
| GDF-15 as a Biomarker for Mitochondrial Disease[NCT02745938] | 97 participants (Actual) | Observational | 2016-06-30 | Completed | |||
| A Phase 2A/2B Placebo-controlled Randomised Clinical Trial to Test the Ability of Triheptanoin to Protect Primary Airway Epithelial Cells Obtained From Participants With Ataxia-telangiectasia Against Death Induced by Glucose Deprivation[NCT04513002] | Phase 2 | 30 participants (Actual) | Interventional | 2022-03-15 | Completed | ||
| A Multi-Center Group to Study Acute Liver Failure in Children[NCT00986648] | 158 participants (Actual) | Observational | 2000-01-31 | Completed | |||
| In Vivo Investigation on Mitochondrial Dysfunction in Post-COVID Fatigue and Cancer Fatigue.[NCT05753228] | 90 participants (Anticipated) | Interventional | 2022-12-09 | Recruiting | |||
| Nutritional Assessment in Patients Affected by Mitochondrial Cytopathy[NCT02375438] | 26 participants (Actual) | Observational | 2014-12-31 | Completed | |||
| Pharmacotoxicology of Trichloroethylene Metabolites: Short-term Effect of DCA on in Vivo Tyrosine Catabolism and MAAI Expression[NCT00865514] | 2 participants (Actual) | Interventional | 2011-08-31 | Terminated (stopped due to Difficulty in obtaining the solution from the compounding pharmacies caused a two year delay in start-up; the funding ended prior to study completion.) | |||
| Phase 3 Trial of Dichloroacetate in Pyruvate Dehydrogenase Complex Deficiency:[NCT02616484] | Phase 3 | 34 participants (Actual) | Interventional | 2020-07-14 | Active, not recruiting | ||
| Open Label Pilot Study Using Hydroxytyrosol (HT) as a Dietary Supplement in Patients With Mitochondrial Diseases (MDs)[NCT04543968] | 12 participants (Anticipated) | Interventional | 2022-07-05 | Recruiting | |||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
14 reviews available for lactic acid and Electron Transport Chain Deficiencies, Mitochondrial
| Article | Year |
|---|---|
Laboratory and metabolic investigations.
Topics: Amino Acids; Humans; Lactic Acid; Mitochondria; Mitochondrial Diseases; Pyruvic Acid | 2023 |
Neuroimaging in mitochondrial disease.
Topics: Brain; Humans; Lactic Acid; Leigh Disease; Magnetic Resonance Imaging; MELAS Syndrome; Mitochondrial | 2023 |
Big Tests in Little People.
Topics: Asthma; Biomarkers; Child; Fibrin Fibrinogen Degradation Products; Heart Diseases; Humans; Infection | 2021 |
Lactate in bipolar disorder: A systematic review and meta-analysis.
Topics: Bipolar Disorder; Brain; Humans; Lactic Acid; Mitochondrial Diseases | 2018 |
Biomarkers for mitochondrial energy metabolism diseases.
Topics: Amino Acids; Biomarkers; Carnitine; Creatine Kinase; Energy Metabolism; Fibroblast Growth Factors; G | 2018 |
Disorders of mitochondrial function.
Topics: Child; Citric Acid Cycle; DNA, Mitochondrial; Genetic Predisposition to Disease; Humans; Lactic Acid | 2008 |
Lactate dyscrasia: a novel explanation for amyotrophic lateral sclerosis.
Topics: Amyotrophic Lateral Sclerosis; Animals; Humans; Lactic Acid; Mitochondrial Diseases; Nerve Degenerat | 2012 |
The use of neuroimaging in the diagnosis of mitochondrial disease.
Topics: Adenosine Triphosphate; Aspartic Acid; Brain; Child; Developmental Disabilities; Diagnosis, Differen | 2010 |
Autism and mitochondrial disease.
Topics: Child; Child Development Disorders, Pervasive; Child, Preschool; Chromosome Aberrations; Comorbidity | 2010 |
Mitochondrial disorders among infants exposed to HIV and antiretroviral therapy.
Topics: Anemia; Animals; Anti-HIV Agents; Blood Cell Count; Developmental Disabilities; DNA, Mitochondrial; | 2007 |
[Complex II (succinate-ubiquinone reductase) deficiency].
Topics: Electron Transport; Electron Transport Complex II; Genes, Recessive; Humans; Lactic Acid; Leigh Dise | 2001 |
[Approach for a final diagnosis of mitochondrial disease].
Topics: Biomarkers; Diagnosis, Differential; DNA, Mitochondrial; Electron Transport Complex IV; Humans; Lact | 2002 |
[The screening test for mitochondrial disease].
Topics: Biomarkers; Diagnosis, Differential; Glucose Tolerance Test; Humans; Lactic Acid; Mass Screening; Mi | 2002 |
[Coenzyme Q10 deficiency].
Topics: Coenzymes; Diagnosis, Differential; Humans; Lactic Acid; Mitochondria; Mitochondrial Diseases; Mitoc | 2002 |
5 trials available for lactic acid and Electron Transport Chain Deficiencies, Mitochondrial
| Article | Year |
|---|---|
A randomized trial of coenzyme Q10 in mitochondrial disorders.
Topics: Absorptiometry, Photon; Activities of Daily Living; Adult; Anaerobic Threshold; Antioxidants; Body C | 2010 |
Reproducibility of the lactate stress test.
Topics: Adult; Aged; Aged, 80 and over; Aging; Exercise Test; Female; Humans; Lactic Acid; Male; Middle Aged | 2003 |
Only transient increase of serum CoQ subset 10 during long-term CoQ10 therapy in mitochondrial ophthalmoplegia.
Topics: Adolescent; Adult; Aged; Antioxidants; Coenzymes; Female; Humans; Lactic Acid; Male; Middle Aged; Mi | 2003 |
Dichloroacetate therapy attenuates the blood lactate response to submaximal exercise in patients with defects in mitochondrial energy metabolism.
Topics: Adult; Child; Child, Preschool; Dichloroacetic Acid; Energy Metabolism; Exercise; Female; Humans; La | 2004 |
Dichloroacetate therapy attenuates the blood lactate response to submaximal exercise in patients with defects in mitochondrial energy metabolism.
Topics: Adult; Child; Child, Preschool; Dichloroacetic Acid; Energy Metabolism; Exercise; Female; Humans; La | 2004 |
Dichloroacetate therapy attenuates the blood lactate response to submaximal exercise in patients with defects in mitochondrial energy metabolism.
Topics: Adult; Child; Child, Preschool; Dichloroacetic Acid; Energy Metabolism; Exercise; Female; Humans; La | 2004 |
Dichloroacetate therapy attenuates the blood lactate response to submaximal exercise in patients with defects in mitochondrial energy metabolism.
Topics: Adult; Child; Child, Preschool; Dichloroacetic Acid; Energy Metabolism; Exercise; Female; Humans; La | 2004 |
Lactate production upon short-term non-ischemic forearm exercise in mitochondrial disorders and other myopathies.
Topics: Adolescent; Adult; Aged; Analysis of Variance; Exercise; Exercise Test; Female; Forearm; Humans; Lac | 2006 |
99 other studies available for lactic acid and Electron Transport Chain Deficiencies, Mitochondrial
| Article | Year |
|---|---|
Association Between Hyperlactatemia, Perfusional Parameters, and Lymphocyte Mitochondrial Dysfunction in Septic Shock Patients.
Topics: Aged; Female; Hemodynamics; Humans; Hyperlactatemia; Lactic Acid; Lymphocytes; Male; Middle Aged; Mi | 2022 |
Diagnostic Values of Venous Peak Lactate, Lactate-to-pyruvate Ratio, and Fold Increase in Lactate from Baseline in Aerobic Exercise Tests in Patients with Mitochondrial Diseases.
Topics: Exercise; Exercise Test; Humans; Lactic Acid; Mitochondrial Diseases; Pyruvates; Retrospective Studi | 2022 |
A Man With Left Ventricular Hypertrophy.
Topics: Adult; Atrophy; Cardiomyopathies; Cerebellar Diseases; Cognitive Dysfunction; Echocardiography; Gluc | 2022 |
m.3685T > C is a novel mitochondrial DNA variant that causes Leigh syndrome.
Topics: DNA, Mitochondrial; Female; Humans; Lactic Acid; Leigh Disease; Mitochondrial Diseases; Mutation; Se | 2022 |
Lip cyanosis as the first symptom of Leigh syndrome associated with mitochondrial complex I deficiency due to a compound heterozygous NDUFS1 mutation: A case report.
Topics: Child; Cyanosis; Disease Progression; Electron Transport Complex I; Humans; Infant; Infant, Newborn; | 2022 |
DARS2 is indispensable for Purkinje cell survival and protects against cerebellar ataxia.
Topics: Animals; Aspartate-tRNA Ligase; Brain Stem; Cell Survival; Cerebellar Ataxia; Cerebellum; Humans; La | 2020 |
Novel compound heterozygous TARS2 variants in a Chinese family with mitochondrial encephalomyopathy: a case report.
Topics: Asian People; Developmental Disabilities; Epilepsy; Family; Gene Expression; Heterozygote; High-Thro | 2020 |
Deep intronic TIMMDC1 variant delays diagnosis of rapidly progressive complex I deficiency.
Topics: Basal Ganglia; Codon, Nonsense; Delayed Diagnosis; Heterozygote; Humans; Infant; Introns; Lactic Aci | 2021 |
ARALAR/AGC1 deficiency, a neurodevelopmental disorder with severe impairment of neuronal mitochondrial respiration, does not produce a primary increase in brain lactate.
Topics: Aggrecans; Amino Acid Transport Systems, Acidic; Animals; Antiporters; Astrocytes; Brain Chemistry; | 2017 |
Liver Transplantation for Mitochondrial Respiratory Chain Disorder: A Single-Center Experience and Excellent Marker of Differential Diagnosis.
Topics: Adult; Biomarkers; Diagnosis, Differential; Female; Humans; Lactic Acid; Liver Failure, Acute; Liver | 2017 |
Detection of metabolic pattern following decompressive craniectomy in severe traumatic brain injury: A microdialysis study.
Topics: Brain Injuries, Traumatic; Cerebrovascular Circulation; Decompressive Craniectomy; Female; Glasgow O | 2017 |
Oxygen consumption in platelets as an adjunct diagnostic method for pediatric mitochondrial disease.
Topics: Biopsy; Blood Platelets; Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Lactic Ac | 2018 |
Cerebral Metabolic Changes Related to Oxidative Metabolism in a Model of Bacterial Meningitis Induced by Lipopolysaccharide.
Topics: Animals; Cerebrum; Disease Models, Animal; Female; Lactic Acid; Lipopolysaccharides; Meningitis, Bac | 2018 |
The urinary organic acids profile in single large-scale mitochondrial DNA deletion disorders.
Topics: 3-Hydroxybutyric Acid; Acyl-CoA Dehydrogenase, Long-Chain; Adolescent; Child; Child, Preschool; Cong | 2018 |
Diagnostic dilemma of patients with methylmalonic aciduria: Experience from a tertiary care centre in Pakistan.
Topics: Alanine; Amino Acid Metabolism, Inborn Errors; Child, Preschool; Citrates; Cross-Sectional Studies; | 2018 |
The first pediatric case of leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) from Turkey.
Topics: Aspartate-tRNA Ligase; Brain Stem; Cerebellum; Child; Humans; Lactic Acid; Leukoencephalopathies; Ma | 2018 |
Simultaneous determination of lactic acid and pyruvic acid in tissue and cell culture media by gas chromatography after in situ derivatization-ultrasound-assisted emulsification microextraction.
Topics: Animals; Cells, Cultured; Chromatography, Gas; Citric Acid Cycle; Culture Media; Emulsions; Lactic A | 2019 |
Detection of increased intracerebral lactate in a mouse model of Leigh syndrome using proton MR spectroscopy.
Topics: Alleles; Animals; Biomarkers; Brain; Disease Models, Animal; Disease Progression; Electron Transport | 2019 |
Biomarkers and clinical rating scales for sodium pyruvate therapy in patients with mitochondrial disease.
Topics: Acidosis, Lactic; Adolescent; Adult; Biomarkers; Female; Fibroblast Growth Factors; Growth Different | 2019 |
Near-Infrared Spectroscopy in the Diagnostic Evaluation of Mitochondrial Disorders: A Neonatal Intensive Care Unit Case Series.
Topics: Brain; Cerebrovascular Circulation; Electroencephalography; Female; Gestational Age; Humans; Infant, | 2019 |
Human mitochondrial disease-like symptoms caused by a reduced tRNA aminoacylation activity in flies.
Topics: Animals; Antioxidants; Cell Respiration; Disease Models, Animal; Drosophila melanogaster; Glycogen; | 2013 |
Mechanisms of muscular electrophysiological and mitochondrial dysfunction following exposure to malathion, an organophosphorus pesticide.
Topics: 8-Hydroxy-2'-Deoxyguanosine; Adenosine Diphosphate; Adenosine Triphosphate; Animals; Apoptotic Prote | 2014 |
Autism spectrum disorders associated to a deficiency of the enzymes of the mitochondrial respiratory chain.
Topics: Child; Child Development Disorders, Pervasive; Child, Preschool; Electron Transport; Female; Humans; | 2013 |
Refractory high output heart failure in a patient with primary mitochondrial respiratory chain disease.
Topics: Adult; Cardiac Output, High; Cardiomyopathies; Heart Failure; Hemodiafiltration; Humans; Lactic Acid | 2014 |
Mitochondrial dysfunction as a neurobiological subtype of autism spectrum disorder: evidence from brain imaging.
Topics: Adult; Brain; Case-Control Studies; Child; Child Development Disorders, Pervasive; Child, Preschool; | 2014 |
Efficacy of pyruvate therapy in patients with mitochondrial disease: a semi-quantitative clinical evaluation study.
Topics: Child; Drug Administration Schedule; Female; Glycolysis; Humans; Infant; Lactic Acid; Male; Mitochon | 2014 |
Bedside evaluation of cerebral energy metabolism in severe community-acquired bacterial meningitis.
Topics: Adolescent; Adult; Aged; Brain Ischemia; Child; Child, Preschool; Disease Transmission, Infectious; | 2015 |
Brain lactate as a potential biomarker for comorbid anxiety disorder in autism spectrum disorder.
Topics: Brain; Child Development Disorders, Pervasive; Female; Humans; Lactic Acid; Male; Mitochondrial Dise | 2015 |
Brain lactate as a potential biomarker for comorbid anxiety disorder in autism spectrum disorder-reply.
Topics: Brain; Child Development Disorders, Pervasive; Female; Humans; Lactic Acid; Male; Mitochondrial Dise | 2015 |
Growth differentiation factor 15 as a useful biomarker for mitochondrial disorders.
Topics: Adolescent; Adult; Biomarkers; Child; Creatine Kinase; Female; Fibroblast Growth Factors; Growth Dif | 2015 |
Mitochondrial Respiratory Defect Causes Dysfunctional Lactate Turnover via AMP-activated Protein Kinase Activation in Human-induced Pluripotent Stem Cell-derived Hepatocytes.
Topics: Acidosis, Lactic; AMP-Activated Protein Kinases; Cell Differentiation; DNA, Mitochondrial; Electron | 2015 |
Anaplerotic treatment of long-chain fat oxidation disorders with triheptanoin: Review of 15 years Experience.
Topics: Administration, Oral; Adolescent; Adult; Carnitine; Child; Child, Preschool; Citric Acid; Fatty Acid | 2015 |
Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3.
Topics: Ataxia; Cerebellar Ataxia; Codon, Nonsense; Delayed Diagnosis; Electron Transport Chain Complex Prot | 2016 |
Diagnostic value of MRS-quantified brain tissue lactate level in identifying children with mitochondrial disorders.
Topics: Adolescent; Biomarkers; Brain; Child; Child, Preschool; Creatine; Female; Humans; Infant; Infant, Ne | 2017 |
Elevated FGF 21 in myotonic dystrophy type 1 and mitochondrial diseases.
Topics: Adult; Aged; Creatine Kinase; Disease Progression; DNA, Mitochondrial; Enzyme-Linked Immunosorbent A | 2017 |
Clinical and Molecular Characteristics in 100 Chinese Pediatric Patients with m.3243A>G Mutation in Mitochondrial DNA.
Topics: Adolescent; Age of Onset; Asian People; Chi-Square Distribution; Child; Child, Preschool; DNA, Mitoc | 2016 |
Severe Metabolic Acidosis and Hepatopathy due to Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate.
Topics: Acidosis; Brain Stem; Diagnosis, Differential; Glutamate-tRNA Ligase; Humans; Infant; Lactic Acid; L | 2017 |
Lysine Restriction and Pyridoxal Phosphate Administration in a NADK2 Patient.
Topics: Child; Diet; Epilepsies, Myoclonic; Female; Homozygote; Humans; Hyperlysinemias; Lactic Acid; Lysine | 2016 |
Lactate and Lactate: Pyruvate Ratio in the Diagnosis and Outcomes of Pediatric Acute Liver Failure.
Topics: Adolescent; Age Factors; Biomarkers; Child; Child, Preschool; Cohort Studies; Female; Humans; Lactic | 2017 |
Mitochondrial diseases mimicking neurotransmitter defects.
Topics: Alanine; Brain; Child, Preschool; Consanguinity; Diagnosis, Differential; Dopamine Agents; Dystonia; | 2008 |
Cerebrospinal fluid evidence of increased extra-mitochondrial glucose metabolism implicates mitochondrial dysfunction in multiple sclerosis disease progression.
Topics: Adult; Analysis of Variance; Disease Progression; Female; Fructose; Glucose; Humans; Lactic Acid; Ma | 2008 |
Assessment of mitochondrial respiratory chain function in hyperphenylalaninaemia.
Topics: Adult; Amino Acid Metabolism, Inborn Errors; Cell Line, Tumor; Cells, Cultured; Culture Media; Elect | 2009 |
MPTP intoxication in mice: a useful model of Leigh syndrome to study mitochondrial diseases in childhood.
Topics: 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine; Animals; Basal Ganglia; Basal Ganglia Diseases; Diseas | 2009 |
Frequency of mitochondrial defects in patients with chronic intestinal pseudo-obstruction.
Topics: Adolescent; Adult; Aged; Biopsy; Child; Child, Preschool; Chronic Disease; Clinical Enzyme Tests; DN | 2009 |
The clinical presentation of mitochondrial diseases in children with progressive intellectual and neurological deterioration: a national, prospective, population-based study.
Topics: Adolescent; Basal Ganglia; Child; Child, Preschool; Developmental Disabilities; Diagnosis, Different | 2010 |
Mitochondrial dysfunction induced by statin contributes to endothelial dysfunction in patients with coronary artery disease.
Topics: Aged; Biomarkers; Brachial Artery; Coronary Artery Disease; Dose-Response Relationship, Drug; Endoth | 2010 |
Traumatic brain injury and metabolism.
Topics: Blood Flow Velocity; Blood Glucose; Brain; Brain Injuries; Craniotomy; Decompression, Surgical; Ener | 2010 |
Mitochondrial toxicity is associated with virological response in patients with HIV and hepatitis C virus coinfection treated with ribavirin and highly active antiretroviral therapy.
Topics: Anti-HIV Agents; Antiretroviral Therapy, Highly Active; Antiviral Agents; Drug Administration Schedu | 2010 |
Lactic acidemia in the pathogenesis of mice carrying mitochondrial DNA with a deletion.
Topics: Acidosis, Lactic; Animals; Behavior, Animal; Cell Respiration; Dichloroacetic Acid; Disease Models, | 2010 |
Clinical manifestations in children with mitochondrial diseases.
Topics: Administration, Oral; Adolescent; Apnea; Cardiovascular Diseases; Child; Child, Preschool; Female; G | 2010 |
Elevated CSF-lactate is a reliable marker of mitochondrial disorders in children even after brief seizures.
Topics: Adolescent; Biomarkers; Brain Diseases, Metabolic; Child, Preschool; Epilepsy; Female; Humans; Infan | 2011 |
Mitochondrial dysfunction in autism.
Topics: Autistic Disorder; Case-Control Studies; Child, Preschool; DNA Copy Number Variations; DNA, Mitochon | 2010 |
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation in the first Polish patient.
Topics: Aspartate-tRNA Ligase; Brain; Brain Stem; DNA Mutational Analysis; Humans; Lactic Acid; Leukoencepha | 2011 |
Cranial magnetic resonance imaging findings in children with nonsyndromic mitochondrial diseases.
Topics: Adolescent; Atrophy; Brain; Child; Child, Preschool; Female; Follow-Up Studies; Humans; Infant; Lact | 2011 |
Lactate peak on brain MRS in children with syndromic mitochondrial diseases.
Topics: Adolescent; Brain; Child; Child, Preschool; Female; Humans; Infant; Lactic Acid; Magnetic Resonance | 2011 |
Diagnostic accuracy of blood and CSF lactate in identifying children with mitochondrial diseases affecting the central nervous system.
Topics: Adolescent; Area Under Curve; Central Nervous System Diseases; Child; Child, Preschool; Female; Huma | 2012 |
Intrauterine growth retardation increases the susceptibility of pigs to high-fat diet-induced mitochondrial dysfunction in skeletal muscle.
Topics: Animals; Blood Glucose; Diet, High-Fat; DNA, Mitochondrial; Eating; Female; Fetal Growth Retardation | 2012 |
Blood metabolite data in response to maximal exercise in healthy subjects.
Topics: Adult; Ammonia; Biomarkers; Energy Metabolism; Exercise; Exercise Test; Exercise Tolerance; Female; | 2012 |
Cerebral energy metabolism during induced mitochondrial dysfunction.
Topics: Anesthesia, Inhalation; Anesthetics, Inhalation; Animals; Blood Gas Analysis; Blood Pressure; Body T | 2013 |
The human OPA1delTTAG mutation induces premature age-related systemic neurodegeneration in mouse.
Topics: Acoustic Stimulation; Age Factors; Aging, Premature; Animals; Aspartic Acid; Chi-Square Distribution | 2012 |
Role of creatine as biomarker of mitochondrial diseases.
Topics: Adolescent; Adult; Biomarkers; Child; Child, Preschool; Creatine; Humans; Infant; Infant, Newborn; L | 2013 |
Mitochondrial disorders: a potentially under-recognized etiology of infantile spasms.
Topics: Diagnosis, Differential; DNA, Mitochondrial; Energy Metabolism; Female; Humans; Infant; Infant, Newb | 2002 |
Increased long-term mitochondrial toxicity in combinations of nucleoside analogue reverse-transcriptase inhibitors.
Topics: Acidosis, Lactic; Cell Line; Chemical and Drug Induced Liver Injury; Cyclooxygenase 2; DNA, Mitochon | 2002 |
Mitochondrial damage associated with long-term antiretroviral treatment: associated alteration or causal disorder?
Topics: Adult; Aged; Antiretroviral Therapy, Highly Active; DNA Damage; DNA, Mitochondrial; Female; HIV Infe | 2002 |
Severe liver mitochondriopathy with normal liver histology and normal lactate levels in patients receiving nucleoside analogues.
Topics: Adult; Anti-HIV Agents; Chemical and Drug Induced Liver Injury; Female; Humans; Lactic Acid; Male; M | 2002 |
Proton MR spectroscopy in the diagnostic evaluation of suspected mitochondrial disease.
Topics: Adolescent; Adult; Brain; Brain Diseases, Metabolic, Inborn; Child; Child, Preschool; Female; Fourie | 2003 |
[Adverse effects of dichloroacetate in a girl with mitochondrial disorder].
Topics: Administration, Oral; Central Nervous System; Child, Preschool; Dichloroacetic Acid; Dose-Response R | 2003 |
Diagnostic utility of a modified forearm ischemic exercise test and technical issues relevant to exercise testing.
Topics: Adult; Ammonia; Catheterization, Peripheral; Eating; Exercise Test; Forearm; Glycogen Storage Diseas | 2003 |
Protective effect of urinary trypsin inhibitor on myocardial mitochondria during hemorrhagic shock and reperfusion.
Topics: Adenosine Triphosphate; Animals; Blood Pressure; Blood Transfusion, Autologous; Energy Metabolism; G | 2003 |
Bezafibrate induces a mitochondrial derangement in human cell lines: a PPAR-independent mechanism for a peroxisome proliferator.
Topics: Acetates; Alanine; Animals; Bezafibrate; Dose-Response Relationship, Drug; Humans; Hypolipidemic Age | 2003 |
Prevalence and progression of mitochondrial diseases: a study of 50 patients.
Topics: Adolescent; Adult; Age of Onset; Aged; Disease Progression; DNA, Mitochondrial; Electromyography; Ep | 2003 |
Respiratory complex II defect in siblings associated with a symptomatic secondary block in fatty acid oxidation.
Topics: Acidosis, Lactic; Acyl-CoA Dehydrogenase; Behavior; Bicarbonates; Carnitine; Cell Line; Fatty Acids; | 2003 |
Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family.
Topics: Adolescent; Alanine; Amino Acid Metabolism, Inborn Errors; Amino Acid Transport Systems, Basic; Arab | 2004 |
Nucleoside-related mitochondrial toxicity among HIV-infected patients receiving antiretroviral therapy: insights from the evaluation of venous lactic acid and peripheral blood mitochondrial DNA.
Topics: Anti-HIV Agents; Antiretroviral Therapy, Highly Active; DNA, Mitochondrial; HIV Infections; Humans; | 2004 |
Effect of high-dose vitamins, coenzyme Q and high-fat diet in paediatric patients with mitochondrial diseases.
Topics: Adolescent; Ascorbic Acid; Child; Child, Preschool; Dietary Fats; DNA, Mitochondrial; Female; Humans | 2004 |
Mitochondrial dysfunction in autism spectrum disorders: a population-based study.
Topics: Adolescent; Autistic Disorder; Child; Comorbidity; Cross-Sectional Studies; Epilepsy; Female; Humans | 2005 |
Clinically mild encephalitis/encephalopathy with a reversible splenial lesion.
Topics: Adolescent; Brain Diseases, Metabolic; Corpus Callosum; Diagnosis, Differential; DNA, Mitochondrial; | 2005 |
Mitochondrial toxicity of nucleoside analogues in primary human lymphocytes.
Topics: CD4-Positive T-Lymphocytes; CD8-Positive T-Lymphocytes; Cells, Cultured; Didanosine; DNA, Mitochondr | 2005 |
Depleted skeletal muscle mitochondrial DNA, hyperlactatemia, and decreased oxidative capacity in HIV-infected patients on highly active antiretroviral therapy.
Topics: Adult; Anti-HIV Agents; Antiretroviral Therapy, Highly Active; DNA, Mitochondrial; Gene Deletion; HI | 2005 |
Brain MRI and proton MRS findings in infants and children with respiratory chain defects.
Topics: Aspartic Acid; Brain; Brain Chemistry; Brain Mapping; Child; Child, Preschool; Female; Humans; Infan | 2005 |
Exercise and cognitive function.
Topics: Aged; Alzheimer Disease; Cognition; Cognition Disorders; Exercise; Humans; Lactic Acid; Middle Aged; | 2005 |
Mitochondrial toxicity associated with linezolid.
Topics: Acetamides; Adult; Aged; Anti-Infective Agents; Asthenia; Brain Abscess; Electron Transport Complex | 2005 |
Noninvasive diagnosis of mitochondrial dysfunction in HAART-related hyperlactatemia.
Topics: Antiretroviral Therapy, Highly Active; Antiviral Agents; DNA, Mitochondrial; Electron Transport Comp | 2006 |
Respiratory chain deficiency in a female with Aicardi-Goutières syndrome.
Topics: Basal Ganglia; Calcinosis; Chromatography, Gas; Dementia, Vascular; Female; Humans; Interferon-alpha | 2006 |
The significance of reduced respiratory chain enzyme activities: clinical, biochemical and radiological associations.
Topics: Adolescent; Age Factors; Brain; Case-Control Studies; Child; Child, Preschool; Consanguinity; Electr | 2006 |
Lactate increase and oxygen desaturation in mitochondrial disorders--evaluation of two diagnostic screening protocols.
Topics: Adolescent; Adult; Aged; Exercise; Exercise Test; Female; Forearm; Gene Deletion; Hand Strength; Hum | 2006 |
Normal serum alanine concentration differentiates transient neonatal lactic acidemia from an inborn error of energy metabolism.
Topics: Alanine; Diagnosis, Differential; DNA, Mitochondrial; Energy Metabolism; Humans; Infant, Newborn; La | 2006 |
Deficiency of mitochondrial ATP synthase of nuclear genetic origin.
Topics: Adenosine Triphosphate; Adolescent; Age of Onset; Cardiomyopathy, Hypertrophic, Familial; Cell Nucle | 2006 |
Brief report: High frequency of biochemical markers for mitochondrial dysfunction in autism: no association with the mitochondrial aspartate/glutamate carrier SLC25A12 gene.
Topics: Aspartic Acid; Autistic Disorder; Chromosome Mapping; DNA Mutational Analysis; DNA Primers; DNA, Mit | 2006 |
Muscle phenotype and mutation load in 51 persons with the 3243A>G mitochondrial DNA mutation.
Topics: Adolescent; Adult; Aged; Anaerobic Threshold; Diabetes Mellitus; DNA, Mitochondrial; Female; Genetic | 2006 |
Diagnostic accuracy of blood lactate-to-pyruvate molar ratio in the differential diagnosis of congenital lactic acidosis.
Topics: Acidosis, Lactic; Child; Diagnosis, Differential; Female; Hospitals, Pediatric; Humans; Lactic Acid; | 2007 |
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.
Topics: Aspartate-tRNA Ligase; Genetic Linkage; Genetic Markers; Haplotypes; Humans; Lactic Acid; Mitochondr | 2007 |
Therapeutic potential of pyruvate therapy for mitochondrial diseases.
Topics: Adult; Animals; Calcium-Binding Proteins; Enzyme Activation; Ethanol; Female; Glycolysis; Humans; La | 2007 |
1H MRS spectroscopy evidence of cerebellar high lactate in mitochondrial respiratory chain deficiency.
Topics: Adolescent; Cerebellar Ataxia; Cerebellum; Child; Child, Preschool; Humans; Infant; Infant, Newborn; | 2008 |
The aerobic forearm exercise test, a non-invasive tool to screen for mitochondrial disorders.
Topics: Adolescent; Adult; Blood Gas Analysis; Diagnosis, Differential; Exercise; Exercise Test; Exercise To | 2007 |
Selective elimination of mutant mitochondrial genomes as therapeutic strategy for the treatment of NARP and MILS syndromes.
Topics: Adenosine Triphosphate; Adenoviridae; Blood Platelets; Cell Line, Tumor; Cell Proliferation; Cell Re | 2008 |
Classification of childhood white matter disorders using proton MR spectroscopic imaging.
Topics: Adrenoleukodystrophy; Adult; Alexander Disease; Aspartic Acid; Brain; Child; Child, Preschool; Choli | 2008 |
Retrospective study of a large population of patients affected with mitochondrial disorders: clinical, morphological and molecular genetic evaluation.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Brain; Child; Child, Preschool; Creatine Kinase; DNA, Mi | 2001 |
Mitochondrial disease and stroke.
Topics: Adolescent; Adult; Brain Ischemia; DNA, Mitochondrial; Female; Humans; Lactic Acid; Male; Mitochondr | 2001 |