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

Year Number of Results
2000 2
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2002 2
2003 2
2004 6
2005 4
2006 5
2007 5
2008 6
2009 5
2010 6
2011 7
2012 4
2013 4
2014 7
2015 5
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2023 2
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94 results

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Page 1
Serine-deficiency syndromes.
de Koning TJ, Klomp LW. de Koning TJ, et al. Curr Opin Neurol. 2004 Apr;17(2):197-204. doi: 10.1097/00019052-200404000-00019. Curr Opin Neurol. 2004. PMID: 15021249 Review.
In contrast to most neurometabolic disorders, serine-deficiency disorders are potentially treatable. Furthermore, the severe neurological symptoms observed in patients underscore the important roles of the serine biosynthetic pathway in brain tissue. ...SUMMARY: Congenital …
In contrast to most neurometabolic disorders, serine-deficiency disorders are potentially treatable. Furthermore, the severe neurological sy …
Cerebral folate deficiency: Analytical tests and differential diagnosis.
Pope S, Artuch R, Heales S, Rahman S. Pope S, et al. J Inherit Metab Dis. 2019 Jul;42(4):655-672. doi: 10.1002/jimd.12092. Epub 2019 May 2. J Inherit Metab Dis. 2019. PMID: 30916789 Review.
Cerebral folate deficiency is potentially a treatable condition and so prompt recognition of these inborn errors and initiation of appropriate therapy is of paramount importance. Secondary cerebral folate deficiency may be observed in other inherited metabolic diseases, in …
Cerebral folate deficiency is potentially a treatable condition and so prompt recognition of these inborn errors and initiation of appropria …
Patterns of brain injury in inborn errors of metabolism.
Gropman AL. Gropman AL. Semin Pediatr Neurol. 2012 Dec;19(4):203-10. doi: 10.1016/j.spen.2012.09.007. Semin Pediatr Neurol. 2012. PMID: 23245553 Free PMC article. Review.
For many, it is unclear how metabolite intoxication or substrate depletion accounts for the specific neurologic findings observed. IEM-associated brain injury patterns are characterized by whether the process involves gray matter, white matter, or both, and beyond that, wh …
For many, it is unclear how metabolite intoxication or substrate depletion accounts for the specific neurologic findings observed. IE …
Magnetic resonance imaging and the detection of fetal brain anomalies, injury, and physiologic adaptations.
Girard N, Chaumoitre K, Confort-Gouny S, Viola A, Levrier O. Girard N, et al. Curr Opin Obstet Gynecol. 2006 Apr;18(2):164-76. doi: 10.1097/01.gco.0000193002.58158.07. Curr Opin Obstet Gynecol. 2006. PMID: 16601478 Review.
Noxious conditions elicit more of a chronic rather than acute response in the fetal brain, which differs from that observed postnatally. Clinical applications of proton magnetic resonance spectroscopy may help elucidate fetal brain maturation and its abnormalities from a m …
Noxious conditions elicit more of a chronic rather than acute response in the fetal brain, which differs from that observed postnatal …
Current concepts in organic acidurias: understanding intra- and extracerebral disease manifestation.
Kölker S, Burgard P, Sauer SW, Okun JG. Kölker S, et al. J Inherit Metab Dis. 2013 Jul;36(4):635-44. doi: 10.1007/s10545-013-9600-8. Epub 2013 Mar 20. J Inherit Metab Dis. 2013. PMID: 23512157 Review.
In conclusion, pathomechanisms underlying the acute disease manifestation in OADs, with a particular focus on the brain, are partially understood. More work is required to predict the risk and to elucidate the mechanism of late-onset organ dysfunction, extracerebral diseas …
In conclusion, pathomechanisms underlying the acute disease manifestation in OADs, with a particular focus on the brain, are partially under …
Enzyme-replacement therapy for metabolic storage disorders.
Brady RO, Schiffmann R. Brady RO, et al. Lancet Neurol. 2004 Dec;3(12):752-6. doi: 10.1016/S1474-4422(04)00938-X. Lancet Neurol. 2004. PMID: 15556808 Review.
WHERE NEXT: There are several critical features of ERT that require attention and amelioration. Among these are the development of severity-score indices that can be used to explicitly quantify the benefit of ERT. ...
WHERE NEXT: There are several critical features of ERT that require attention and amelioration. Among these are the development of severity- …
Mechanisms of neurodegeneration in Huntington's disease.
Gil JM, Rego AC. Gil JM, et al. Eur J Neurosci. 2008 Jun;27(11):2803-20. doi: 10.1111/j.1460-9568.2008.06310.x. Eur J Neurosci. 2008. PMID: 18588526 Review.
Furthermore, excitotoxicity, dopamine toxicity, metabolic impairment, mitochondrial dysfunction, oxidative stress, apoptosis, and autophagy have been implicated in the progressive degeneration observed in HD. Nevertheless, despite the efforts of a multidisciplinary scienti …
Furthermore, excitotoxicity, dopamine toxicity, metabolic impairment, mitochondrial dysfunction, oxidative stress, apoptosis, and autophagy …
Pivotal role of carnosine in the modulation of brain cells activity: Multimodal mechanism of action and therapeutic potential in neurodegenerative disorders.
Caruso G, Caraci F, Jolivet RB. Caruso G, et al. Prog Neurobiol. 2019 Apr;175:35-53. doi: 10.1016/j.pneurobio.2018.12.004. Epub 2018 Dec 26. Prog Neurobiol. 2019. PMID: 30593839 Review.
We then turn to carnosine's biochemistry and distribution in the brain. Using an array of recent observations as a foundation, we draw a parallel with the role of carnosine in muscles and speculate on the role of carnosine in promoting the metabolic support of neurons by g …
We then turn to carnosine's biochemistry and distribution in the brain. Using an array of recent observations as a foundation, we dra …
Leukoencephalopathies associated with inborn errors of metabolism in adults.
Sedel F, Tourbah A, Fontaine B, Lubetzki C, Baumann N, Saudubray JM, Lyon-Caen O. Sedel F, et al. J Inherit Metab Dis. 2008 Jun;31(3):295-307. doi: 10.1007/s10545-008-0778-0. Epub 2008 Feb 25. J Inherit Metab Dis. 2008. PMID: 18344012 Review.
These diseases are particularly important to recognize because specific treatments often exist. In this review, illustrated by personal observations, we give an overview of late-onset leukoencephalopathies caused by IEMs....
These diseases are particularly important to recognize because specific treatments often exist. In this review, illustrated by personal o …
Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers.
Nicolas G, Charbonnier C, de Lemos RR, Richard AC, Guillin O, Wallon D, Legati A, Geschwind D, Coppola G, Frebourg T, Campion D, de Oliveira JR, Hannequin D; collaborators from the French IBGC study Group. Nicolas G, et al. Am J Med Genet B Neuropsychiatr Genet. 2015 Oct;168(7):586-94. doi: 10.1002/ajmg.b.32336. Epub 2015 Jun 30. Am J Med Genet B Neuropsychiatr Genet. 2015. PMID: 26129893
Among the symptomatic mutation carriers (33/57, 58%), the three most frequently observed categories of clinical features were psychiatric signs (72.7%, 76.5%, and 80% for PDGFB, SLC20A2, and PDGFRB, respectively), movement disorders (45.5%, 76.5%, and 40%), and cognitive i …
Among the symptomatic mutation carriers (33/57, 58%), the three most frequently observed categories of clinical features were psychia …
94 results