Hyperprolinemia

Known as: Prolinemia, hyperprolinaemia 
An increased concentration of proline in the blood. [HPO:gcarletti]
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2012
2012
Type II hyperprolinemia is an autosomal recessive disorder caused by a deficiency in Δ(1)-pyrroline-5-carboxylate dehydrogenase… (More)
Is this relevant?
Highly Cited
2011
Highly Cited
2011
Members of the aldehyde dehydrogenase gene (ALDH) superfamily play an important role in the enzymic detoxification of endogenous… (More)
  • table 1
  • figure 1
  • figure 2
Is this relevant?
2011
2011
There are multiple genetic links between schizophrenia and a deficit of proline dehydrogenase (PRODH) enzyme activity. However… (More)
Is this relevant?
Highly Cited
2007
Highly Cited
2007
Microdeletions of the 22q11 region, responsible for the velo-cardio-facial syndrome (VCFS), are associated with an increased risk… (More)
  • table 1
  • table 2
  • table 2
  • table 3
  • table 4
Is this relevant?
2005
2005
DNA sequence variations within the 22q11 DiGeorge chromosomal region are likely to confer susceptibility to psychotic disorders… (More)
  • table 1
  • table 2
  • table 3
  • table 4
  • table 5
Is this relevant?
2005
2005
In the present study we investigated the effect of chronic proline (Pro) administration on rat performance in the Morris water… (More)
Is this relevant?
2005
2005
We observed here that acute proline (Pro) administration provoked a decrease (32%) of acetylcholinesterase (AChE) activity in… (More)
  • figure 1
  • figure 2
Is this relevant?
Highly Cited
2002
Highly Cited
2002
The increased prevalence of schizophrenia among patients with the 22q11 interstitial deletion associated with DiGeorge syndrome… (More)
  • figure 1
  • figure 2
  • table 1
  • table 3
  • table 2
Is this relevant?
2001
2001
We previously identified vitamin B6 deficiency in a child presenting with seizures whose primary diagnosis was the inherited… (More)
Is this relevant?
1963
1963
It is now becoming generally noted that many diseases of hitherto unknown aetiology are due to inborn errors of metabolism in the… (More)
  • figure 1
  • figure 3
  • figure 4
  • figure 5
  • table I
Is this relevant?