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

Year Number of Results
2001 2
2002 3
2003 1
2004 4
2005 4
2006 6
2007 5
2008 8
2009 2
2010 6
2011 1
2012 4
2013 6
2014 6
2015 1
2016 1
2017 3
2018 4
2019 5
2020 6
2021 3
2022 1
2024 2

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72 results

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Page 1
Psychiatric Disorders Secondary to Neurometabolic Disorders.
Herrera PM, Vélez Van Meerbeke A, Bonnot O. Herrera PM, et al. Rev Colomb Psiquiatr (Engl Ed). 2018 Oct-Dec;47(4):244-251. doi: 10.1016/j.rcp.2017.05.004. Epub 2017 Jun 17. Rev Colomb Psiquiatr (Engl Ed). 2018. PMID: 30286847 Review. English, Spanish.
Human coenzyme Q10 deficiency.
Quinzii CM, DiMauro S, Hirano M. Quinzii CM, et al. Neurochem Res. 2007 Apr-May;32(4-5):723-7. doi: 10.1007/s11064-006-9190-z. Epub 2006 Nov 10. Neurochem Res. 2007. PMID: 17094036 Free PMC article. Review.
Deficiency of CoQ(10) (MIM 607426) has been associated with five different clinical presentations that suggest genetic heterogeneity, which may be related to the multiple steps in CoQ(10) biosynthesis. Patients with all forms of CoQ(10) deficiency have shown clinical …
Deficiency of CoQ(10) (MIM 607426) has been associated with five different clinical presentations that suggest genetic heterogeneity, …
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.
BACKGROUND: After many years of intensive investigation, enzyme-replacement therapy (ERT) has become standard treatment for patients with type 1 (non-neuronopathic) Gaucher's disease. ERT has greatly changed the clinical course of this disorder by reducing hepatosplenomega …
BACKGROUND: After many years of intensive investigation, enzyme-replacement therapy (ERT) has become standard treatment for patients with ty …
Determinants of tyrosinaemia during nitisinone therapy in alkaptonuria.
Ranganath LR, Milan AM, Hughes AT, Davison AS, M K, Norman BP, Bou-Gharios G, Gallagher JA, Imrich R, Arnoux JB, Rudebeck M, Olsson B. Ranganath LR, et al. Sci Rep. 2022 Sep 27;12(1):16083. doi: 10.1038/s41598-022-20424-z. Sci Rep. 2022. PMID: 36167967 Free PMC article.
Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS).
Pearson TS, Akman C, Hinton VJ, Engelstad K, De Vivo DC. Pearson TS, et al. Curr Neurol Neurosci Rep. 2013 Apr;13(4):342. doi: 10.1007/s11910-013-0342-7. Curr Neurol Neurosci Rep. 2013. PMID: 23443458 Review.
The past 5 years have seen a dramatic expansion in the range of clinical syndromes that are recognized to occur with Glut1 DS. In particular, there has been greater recognition of milder phenotypes. ...Intellectual impairment may range from severe to very mild. Awareness o …
The past 5 years have seen a dramatic expansion in the range of clinical syndromes that are recognized to occur with Glut1 DS. In par …
L-carnitine supplementation as a potential antioxidant therapy for inherited neurometabolic disorders.
Ribas GS, Vargas CR, Wajner M. Ribas GS, et al. Gene. 2014 Jan 10;533(2):469-76. doi: 10.1016/j.gene.2013.10.017. Epub 2013 Oct 19. Gene. 2014. PMID: 24148561 Review.
In recent years increasing evidence has emerged suggesting that oxidative stress is involved in the pathophysiology of a number of inherited metabolic disorders. However the clinical use of classical antioxidants in these diseases has been poorly evaluated and so far no be …
In recent years increasing evidence has emerged suggesting that oxidative stress is involved in the pathophysiology of a number of inherited …
72 results