Skip to search formSkip to main contentSkip to account menu

Inborn Errors of Metabolism

Known as: Metabolism, Inborn Errors, Errors Metabolism, Inborn, Metabolism, Inborn Errors [Disease/Finding] 
A group of disorders present at birth that involve genetic defects leading to disturbances in carbohydrate, lipid, lysosomal storage or amino acid… 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
1996
Highly Cited
1996
Two infant vision screening programmes on total populations in the Cambridge Health District have been designed to identify… 
Highly Cited
1995
Highly Cited
1995
OBJECTIVE Many children with Tourette's syndrome (TS) are handicapped more by difficulties with inattention, impulsivity, and… 
Review
1993
Review
1993
In this article we review the biochemical basis for markers of bone metabolism and comment on their bone specificity and… 
Highly Cited
1986
Highly Cited
1986
L-Glutamic, L-aspartic acids and a number of their structural analogs, including quisqualic, kainic, ibotenic, quinolinic, and N… 
Highly Cited
1976
Highly Cited
1976
Amino acid concentrations were determined in plasma, whole blood, cerebrospinal fluid and brain tissue of 45 patients with grade… 
Highly Cited
1975
Highly Cited
1975
To evaluate the role of hyperketonemia in the hypoalaninemia and decreased protein catabolism of prolonged starvation, Na dl-beta…