Skip to search formSkip to main contentSkip to account menu

Hydroxyprolinemia

Known as: 4-Hydroxy-L-Proline Oxidase Deficiency, High blood hydroxyproline levels, hydroxyprolinaemia 
An increased concentration of hydroxyproline in the blood. [HPO:gcarletti]
National Institutes of Health

Related topics

Related topics

2 relations

Broader (2)

Amino Acid Metabolism, Inborn ErrorsOxidoreductases Acting on CH-NH Group Donors

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2016
2016
SSIEM 2016 Annual Symposium - Content
01. Inborn errors of metabolism in adults O-001 Interim data from a randomized, placebo controlled, phase 1 study of ALN-AS1, an… 
1982
1982
Biochemical screening and mental retardation
Biochemical screening for metabolic defects carried out among the mentally retarded at the National Institute of Mental Health… 
1980
1980
Hydroxyprolinaemia with normal development.
A 6th case of hydroxyprolinaemia is described. The response to an oral hydroxyproline load failed to demonstrate an abnormal… 
1979
1979
Hydroxyproline metabolism in two sisters with hydroxyprolinemia.
Hydroxyproline metabolism was evaluated in two sisters with hydroxyprolinemia and their mother. 33 and 21% of an oral… 
1974
1974
Hydroxyprolinemia: a case report.
1970
1970
Hydroxyprolinemia: an apparently harmless familial metabolic disorder.
Abstract In a family with hydroxyprolinemia the proposita was a 31-year-old woman whose disorder was characterized by the… 
1970
1970
Hydroxyprolinemia as an illustration of nonessential enzymes in man.
The report on hydroxyprolinemia in the present issue of the Journal (page 451) dramatically illustrates an interesting error that… 
1967
1967
Treatment of hydroxyprolinemia and hyperprolinemia.
HYDROXYPROLINE and proline are nonessential amino acids; both are synthesized in the body. Thus, the three known diseases which… 
Review
1966
Review
1966
Hydroxyprolinemia and increased excretion of free hydroxyproline in early infancy.
Isotopic studies have indicated that the hydroxyproline excreted in urine is derived primarily from the degradation of collagen… 
Review
1962
Review
1962
Hydroxyprolinemia Associated with Mental Deficiency
THE recent description in this journal of a family with a high plasma proline concentration associated with cerebral dysfunction… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)