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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1976 2
1978 3
1979 2
1980 1
1982 1
1984 1
1985 3
1986 1
1987 1
1988 2
1989 4
1990 1
1991 1
1992 3
1993 4
1994 3
1995 3
1996 2
1997 4
1998 2
1999 5
2000 4
2001 6
2002 6
2003 1
2005 2
2006 4
2007 1
2008 3
2009 1
2010 1
2011 3
2012 3
2013 5
2014 2
2015 4
2016 2
2017 6
2018 2
2019 2
2020 2
2021 2
2022 1
2023 0

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106 results

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Page 1
Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.
Wasim M, Awan FR, Khan HN, Tawab A, Iqbal M, Ayesha H. Wasim M, et al. Biochem Genet. 2018 Apr;56(1-2):7-21. doi: 10.1007/s10528-017-9825-6. Epub 2017 Nov 1. Biochem Genet. 2018. PMID: 29094226 Review.
Inborn errors of metabolism (IEMs) are a group of inherited metabolic disorders which are caused by mutations in the specific genes that lead to impaired proteins or enzymes production. Different metabolic pathways are perturbed due to the deficiency or lack of enzymes. To …
Inborn errors of metabolism (IEMs) are a group of inherited metabolic disorders which are caused by mutations in the specific genes that lea …
Mitochondrial function and toxicity: role of the B vitamin family on mitochondrial energy metabolism.
Depeint F, Bruce WR, Shangari N, Mehta R, O'Brien PJ. Depeint F, et al. Chem Biol Interact. 2006 Oct 27;163(1-2):94-112. doi: 10.1016/j.cbi.2006.04.014. Epub 2006 May 1. Chem Biol Interact. 2006. PMID: 16765926 Review.
This review focuses on their essential role in maintaining mitochondrial function and on how mitochondria are compromised by a deficiency of any B vitamin. Thiamin (B1) is essential for the oxidative decarboxylation of the multienzyme branched-chain ketoacid dehydrogena …
This review focuses on their essential role in maintaining mitochondrial function and on how mitochondria are compromised by a deficiency …
Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety.
Zweers H, van Wegberg AMJ, Janssen MCH, Wortmann SB. Zweers H, et al. Orphanet J Rare Dis. 2021 Jul 3;16(1):295. doi: 10.1186/s13023-021-01927-w. Orphanet J Rare Dis. 2021. PMID: 34217336 Free PMC article. Review.
BACKGROUND: No curative therapy for mitochondrial disease (MD) exists, prioritizing supportive treatment for symptom relief. ...METHODS: We searched Pubmed, Cochrane, Embase and Cinahl (November 2020) with search terms linked to MD and KD. From the identified records, we e …
BACKGROUND: No curative therapy for mitochondrial disease (MD) exists, prioritizing supportive treatment for symptom relief. ...METHO …
Ketogenic Diets in the Treatment of Epilepsy.
Elia M, Klepper J, Leiendecker B, Hartmann H. Elia M, et al. Curr Pharm Des. 2017;23(37):5691-5701. doi: 10.2174/1381612823666170809101517. Curr Pharm Des. 2017. PMID: 28799513 Review.
Ketogenic diet (KD), first proposed at the beginning of the last century, is complex and has anticonvulsant effects, yet not completely understood. ...RESULTS: KDs may be considered first choice treatment in some specific metabolic conditions, such as glucosetransporter ty …
Ketogenic diet (KD), first proposed at the beginning of the last century, is complex and has anticonvulsant effects, yet not complete …
Decoding Alzheimer's disease from perturbed cerebral glucose metabolism: implications for diagnostic and therapeutic strategies.
Chen Z, Zhong C. Chen Z, et al. Prog Neurobiol. 2013 Sep;108:21-43. doi: 10.1016/j.pneurobio.2013.06.004. Epub 2013 Jul 11. Prog Neurobiol. 2013. PMID: 23850509 Free article. Review.
Alzheimer's disease (AD) is an age-related devastating neurodegenerative disorder, which severely impacts on the global economic development and healthcare system. ...To clarify the causes, pathogeneses and consequences of cerebral hypometabolism in AD will help break the …
Alzheimer's disease (AD) is an age-related devastating neurodegenerative disorder, which severely impacts on the global economic deve …
Pyruvate dehydrogenase complex deficiency and its relationship with epilepsy frequency--An overview.
Bhandary S, Aguan K. Bhandary S, et al. Epilepsy Res. 2015 Oct;116:40-52. doi: 10.1016/j.eplepsyres.2015.07.002. Epub 2015 Jul 8. Epilepsy Res. 2015. PMID: 26354166 Review.
The pyruvate dehydrogenase complex (PDHc) is a member of a family of multienzyme complexes that provides the link between glycolysis and the tricarboxylic acid (TCA) cycle by catalyzing the physiologically irreversible decarboxylation of various 2-oxoacid sub …
The pyruvate dehydrogenase complex (PDHc) is a member of a family of multienzyme complexes that provides the link betwe …
Comparison Between Dichloroacetate and Phenylbutyrate Treatment for Pyruvate Dehydrogenase Deficiency.
Karissa P, Simpson T, Dawson SP, Low TY, Tay SH, Nordin FDA, Zain SM, Lee PY, Pung YF. Karissa P, et al. Br J Biomed Sci. 2022 May 19;79:10382. doi: 10.3389/bjbs.2022.10382. eCollection 2022. Br J Biomed Sci. 2022. PMID: 35996497 Free PMC article. Review.
Pyruvate dehydrogenase (PDH) deficiency is caused by a number of pathogenic variants and the most common are found in the PDHA1 gene. ...It potentially leads to increased mortality in sufferers. Potential treatments for this disease include dichloroace …
Pyruvate dehydrogenase (PDH) deficiency is caused by a number of pathogenic variants and the most common are found in t …
[Pyruvate dehydrogenase deficiency].
Pedersen S, Bliksrud YT, Selmer KK, Ramm-Pettersen A. Pedersen S, et al. Tidsskr Nor Laegeforen. 2019 Oct 14;139(15). doi: 10.4045/tidsskr.18.0988. Print 2019 Oct 22. Tidsskr Nor Laegeforen. 2019. PMID: 31642628 Free article. Review. Norwegian.
Pyruvate dehydrogenase deficiency is a rare mitochondrial disease leading to energy deficiency in the cells. ...
Pyruvate dehydrogenase deficiency is a rare mitochondrial disease leading to energy deficiency in the cel …
The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.
Patel KP, O'Brien TW, Subramony SH, Shuster J, Stacpoole PW. Patel KP, et al. Mol Genet Metab. 2012 Jan;105(1):34-43. doi: 10.1016/j.ymgme.2011.09.032. Epub 2011 Oct 7. Mol Genet Metab. 2012. PMID: 22079328 Free PMC article. Corrected and republished. Review.
CONTEXT: Pyruvate dehydrogenase complex (PDC) deficiency is a genetic mitochondrial disorder commonly associated with lactic acidosis, progressive neurological and neuromuscular degeneration and, usually, death during childhood. There has been no recen …
CONTEXT: Pyruvate dehydrogenase complex (PDC) deficiency is a genetic mitochondrial disorder commonly associated …
The Pyruvate Dehydrogenase Complex and Related Assemblies in Health and Disease.
Byron O, Lindsay JG. Byron O, et al. Subcell Biochem. 2017;83:523-550. doi: 10.1007/978-3-319-46503-6_19. Subcell Biochem. 2017. PMID: 28271489 Review.
The family of 2-oxoacid dehydrogenase complexes (2-OADC), typified by the pyruvate dehydrogenase multi-enzyme complex (PDC) as its most prominent member, are massive molecular machines (M(r), 4-10 million) controlling key steps in glucose homeostasis ( …
The family of 2-oxoacid dehydrogenase complexes (2-OADC), typified by the pyruvate dehydrogenase multi-enzyme comple …
106 results