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Your search for Lactic aciduria due to D-lactic acid AND humans[mesh] AND review[publication type] retrieved no results
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR. Ashrafi MR, et al. Expert Rev Neurother. 2020 Jan;20(1):65-84. doi: 10.1080/14737175.2020.1699060. Epub 2019 Dec 12. Expert Rev Neurother. 2020. PMID: 31829048 Review.
New genetic methods and stem cell transplantation are also under investigation to further increase the quality and duration of life in affected population.Expert opinion: The improvements in molecular diagnostic tools allow us to identify the meticulous underlying etiology of leu …
New genetic methods and stem cell transplantation are also under investigation to further increase the quality and duration of life in affec …
Barth Syndrome: Connecting Cardiolipin to Cardiomyopathy.
Ikon N, Ryan RO. Ikon N, et al. Lipids. 2017 Feb;52(2):99-108. doi: 10.1007/s11745-016-4229-7. Epub 2017 Jan 9. Lipids. 2017. PMID: 28070695 Free PMC article. Review.
The Barth syndrome (BTHS) is caused by an inborn error of metabolism that manifests characteristic phenotypic features including altered mitochondrial membrane phospholipids, lactic acidosis, organic acid-uria, skeletal muscle weakness and cardiomyopathy. ...As TCA …
The Barth syndrome (BTHS) is caused by an inborn error of metabolism that manifests characteristic phenotypic features including altered mit …
Neurodegeneration and chronic renal failure in methylmalonic aciduria--a pathophysiological approach.
Morath MA, Okun JG, Müller IB, Sauer SW, Hörster F, Hoffmann GF, Kölker S. Morath MA, et al. J Inherit Metab Dis. 2008 Feb;31(1):35-43. doi: 10.1007/s10545-007-0571-5. Epub 2007 Sep 12. J Inherit Metab Dis. 2008. PMID: 17846917 Review.
The underlying pathomechanisms of chronic renal insufficiency in methylmalonic acidurias are not yet understood. We hypothesize that renal and cerebral pathomechanisms share some similarities, such as an involvement of dicarboxylic acid transport. This review aims t …
The underlying pathomechanisms of chronic renal insufficiency in methylmalonic acidurias are not yet understood. We hypothesize that …
Disruption of mitochondrial functions and oxidative stress contribute to neurologic dysfunction in organic acidurias.
Wajner M, Vargas CR, Amaral AU. Wajner M, et al. Arch Biochem Biophys. 2020 Dec 15;696:108646. doi: 10.1016/j.abb.2020.108646. Epub 2020 Oct 21. Arch Biochem Biophys. 2020. PMID: 33098870 Review.
Organic acidurias (OADs) are inherited disorders of amino acid metabolism biochemically characterized by accumulation of short-chain carboxylic acids in tissues and biological fluids of the affected patients and clinically by predominant neurological manifestations. …
Organic acidurias (OADs) are inherited disorders of amino acid metabolism biochemically characterized by accumulation of short …
Organic acidurias and related abnormalities.
Lehotay DC, Clarke JT. Lehotay DC, et al. Crit Rev Clin Lab Sci. 1995;32(4):377-429. doi: 10.3109/10408369509084689. Crit Rev Clin Lab Sci. 1995. PMID: 7576158 Review.
Organic acid analysis is a powerful technique in the diagnosis of inborn errors of metabolism. ...The biochemical and clinical characteristics of each of the primary organic acidurias are described. In addition, the various noninherited causes of secondary organic …
Organic acid analysis is a powerful technique in the diagnosis of inborn errors of metabolism. ...The biochemical and clinical charac …
New indications and controversies in arginine therapy.
Coman D, Yaplito-Lee J, Boneh A. Coman D, et al. Clin Nutr. 2008 Aug;27(4):489-96. doi: 10.1016/j.clnu.2008.05.007. Epub 2008 Jul 21. Clin Nutr. 2008. PMID: 18640748 Review.
Arginine is an important, versatile and a conditionally essential amino acid. Besides serving as a building block for tissue proteins, arginine plays a critical role in ammonia detoxification, and nitric oxide and creatine production. ...In recent years, arginine supplemen …
Arginine is an important, versatile and a conditionally essential amino acid. Besides serving as a building block for tissue proteins …
Disorders caused by deficiency of succinate-CoA ligase.
Ostergaard E. Ostergaard E. J Inherit Metab Dis. 2008 Apr;31(2):226-9. doi: 10.1007/s10545-008-0828-7. Epub 2008 Apr 4. J Inherit Metab Dis. 2008. PMID: 18392745 Review.
Mutations have also been reported in SUCLG1, which encodes the alpha subunit found in both enzymes, in patients with severe infantile acidosis and lactic aciduria. Elevated methylmalonate and methylcitrate and severe mtDNA depletion were found in both disorders. ...
Mutations have also been reported in SUCLG1, which encodes the alpha subunit found in both enzymes, in patients with severe infantile acidos …
Organic acidurias: a review. Part 2.
Ozand PT, Gascon GG. Ozand PT, et al. J Child Neurol. 1991 Oct;6(4):288-303. doi: 10.1177/088307389100600402. J Child Neurol. 1991. PMID: 1940129 Review.
In most organic acidemias, metabolism of glucose, ketone bodies, and ammonia is deranged primarily or secondarily, in addition to derangement of the acid-base balance. Hypoglycemia, lactic and/or ketoacidosis, and hyperammonemia of varying severity accompany the ove …
In most organic acidemias, metabolism of glucose, ketone bodies, and ammonia is deranged primarily or secondarily, in addition to derangemen …
Physiology and pathophysiology of organic acids in cerebrospinal fluid.
Hoffmann GF, Meier-Augenstein W, Stöckler S, Surtees R, Rating D, Nyhan WL. Hoffmann GF, et al. J Inherit Metab Dis. 1993;16(4):648-69. doi: 10.1007/BF00711898. J Inherit Metab Dis. 1993. PMID: 8412012 Review.
Organic acids related to carbohydrate and energy metabolism and to amino acid degradation were present in CSF in the same amounts as or slightly smaller amounts than in plasma. ...Studies of organic acids in CSF and plasma samples are presented from patients with 'cerebral …
Organic acids related to carbohydrate and energy metabolism and to amino acid degradation were present in CSF in the same amounts as …
[Congenital myasthenic syndrome related to SLC25A1 gene variant: two cases report and literature review].
Li WH, Wu BB, Zhou SZ. Li WH, et al. Zhonghua Er Ke Za Zhi. 2021 Jan 2;59(1):42-46. doi: 10.3760/cma.j.cn112140-20200730-00767. Zhonghua Er Ke Za Zhi. 2021. PMID: 33397003 Review. Chinese.
In addition to typical CMS symptoms (fatigable muscular weakness, including bilateral ptosis, strabismus, masticatory weakness, low voice and limb weakness), the two patients both had developmental delay along with metabolic abnormalities (elevated urinary 2-ketoglutarate (2-KG), …
In addition to typical CMS symptoms (fatigable muscular weakness, including bilateral ptosis, strabismus, masticatory weakness, low voice an …
13 results