Brain Diseases, Metabolic, Inborn

Known as: Brain Diseases, Metabolic, Inborn [Disease/Finding], Brain Syndrome, Metabolic, Inborn, Metabolic Brain Syndrome, Inborn 
Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or… (More)
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2016
Review
2016
Several metabolic alterations accumulate over time along with a reduction in biological fitness, suggesting the existence of a… (More)
  • figure 1
  • table 1
  • figure 2
  • table 2
  • figure 3
Is this relevant?
Review
2008
Review
2008
Interferon (IFN) was originally identified as a substance 'interfering' with viral replication in vitro. The first IFNs to be… (More)
Is this relevant?
2007
2007
Metabolite profiling has been established as a multiparallel strategy for relative quantification of a mixture of compounds or… (More)
  • table 1
  • figure 1
  • figure 2
Is this relevant?
Review
2006
Review
2006
In view of the major improvements in treatment, it has become increasingly important that in order for first-line physicians not… (More)
  • table 1
  • table 2
  • table 3
Is this relevant?
Review
2006
Review
2006
Beginning with phenylketonuria, dietary therapy for inborn errors has focused primarily on the restriction of the precursor to an… (More)
  • table 1
  • figure 2
  • figure 4
  • table 2
  • figure 5
Is this relevant?
Highly Cited
2004
Highly Cited
2004
Understanding the molecular basis of heart development is an important research area, because malformation of the cardiovascular… (More)
  • figure 1
  • figure 2
  • table 1
  • figure 3
  • figure 4
Is this relevant?
Highly Cited
2003
Highly Cited
2003
BACKGROUND The recent development of electrospray tandem mass spectrometry makes it possible to screen newborns for many rare… (More)
Is this relevant?
Highly Cited
2002
Highly Cited
2002
To investigate the neuroendocrine alterations linked to inborn emotionality in two Wistar rat lines selectively bred for either… (More)
  • figure 2
  • figure 1
  • figure 4
  • figure 3
  • table 1
Is this relevant?
Highly Cited
2001
Highly Cited
2001
The most common cause of an increase of the hematocrit is secondary to elevated erythropoietin levels. Erythrocytosis is assumed… (More)
  • figure 1
  • figure 3
  • figure 2
  • figure 4
  • figure 5
Is this relevant?
Highly Cited
1993
Highly Cited
1993
Homocysteine and 5-CH3-tetrahydrofolate (5-CH3-THF) are converted to methionine and THF by the CH3-cobalamin (CH3-Cbl)-dependent… (More)
Is this relevant?