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Brain Diseases, Metabolic, Inherited

Known as: Metabolic Brain Diseases, Familial, Inherited Metabolic Disorders, Brain, Metabolic Disorders, Familial, Brain 
National Institutes of Health

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Broader (1)

Brain Diseases, Metabolic, Inborn

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2015
Review
2015
Phenotypes of AKT3 deletion: A case report and literature review
AKT3 (v‐akt murine thymoma viral oncogene homolog 3) is located at chromosome 1q44 and encodes a 479 amino acid protein, a member… Expand
2015
2015
ResearchEffects of ranolazine on wild-type and mutant hNav 1 . 7 channels and on DRG neuron excitability
Background: A direct role of sodium channels in pain has recently been confirmed by establishing a monogenic link between SCN9A… Expand
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Review
2014
Review
2014
Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders
Mitochondrial disorders are caused by defects in mitochondrial or nuclear DNA. Although the existence of large deletions in… Expand
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2011
2011
Gene therapy for primary immunodeficiencies.
The concept of gene therapy emerged as a way of correcting monogenic inherited diseases by introducing a normal copy of the… Expand
Review
2010
Review
2010
Gene therapy for primary immunodeficiencies.
The concept of gene therapy emerged as a way of correcting monogenic inherited diseases by introducing a normal copy of the… Expand
2006
2006
Quantification of fetal and total circulatory DNA in maternal plasma samples before and after size fractionation by agarose gel electrophoresis.
Fetal extracellular DNA is mainly derived from apoptotic bodies of trophoblast. Recent studies have shown size differences… Expand
Review
1997
Review
1997
[Clinical and molecular genetic analyses of congenital myotonic dystrophy].
  • T. Kojo, K. Arahata
  • Nihon rinsho. Japanese journal of clinical…
  • 1997
    • Corpus ID: 26223482
Myotonic dystrophy (DM) results from the amplification of an unstable CTG repeat in the 3' untranslated region of a transcript… Expand
1985
1985
Serum lipid peroxide levels in rats with inherited cataracts.
In a new strain of rat with inherited cataracts, a postnatal increase in serum lipid peroxide level was observed. It reached the… Expand
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