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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

Related topics

Related topics

50 relations

Narrower (30)

3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency3-Hydroxyacyl-CoA Dehydrogenase Deficiency3-Methylglutaconic Aciduria3-Methylglutaconic Aciduria Type IV
Amino Acid Metabolism, Inborn ErrorsBiotinCongenital HypothyroidismCongenital Systemic Disorder

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2013
Review
2013
Inborn errors of metabolism causing epilepsy
Seizures may be the first and the major presenting feature of an inborn error of metabolism (IEM), for example in a neonate with… 
Highly Cited
2001
Highly Cited
2001
Clinical results of wavefront‐guided laser in situ keratomileusis 3 months after surgery
Review
1993
Review
1993
Biochemical markers of bone metabolism.
In this article we review the biochemical basis for markers of bone metabolism and comment on their bone specificity and… 
Highly Cited
1988
Highly Cited
1988
Dissociation of inflectional and derivational morphology
Highly Cited
1986
Highly Cited
1986
The activation of inositol phospholipid metabolism as a signal- transducing system for excitatory amino acids in primary cultures of cerebellar granule cells
L-Glutamic, L-aspartic acids and a number of their structural analogs, including quisqualic, kainic, ibotenic, quinolinic, and N… 
Review
1983
Review
1983
Nitrogen metabolism of ruminant animals: historical perspective, current understanding and future implications.
Nitrogen metabolism of ruminant animals has been the subject of thousands of research publications. Study of ruminal and… 
Highly Cited
1982
Highly Cited
1982
Hyperacuity and amblyopia
The most frequent cause of visual loss in childhood is functional amblyopia, an abnormality of visual acuity usually associated… 
Highly Cited
1975
Highly Cited
1975
Role of lysosomal acid lipase in the metabolism of plasma low density lipoprotein. Observations in cultured fibroblasts from a patient with cholesteryl ester storage disease.
Review
1969
Review
1969
Screening for inborn errors of metabolism.
ments of technique," and the operative mortality (approximately 5%) is similar to that of other methods. The ideal method of… 
Highly Cited
1969
Highly Cited
1969
THE TRANSMISSION OF REFRACTIVE ERRORS WITHIN ESKIMO FAMILIES*
ABSTRACT A study was carried out on volunteer Eskimo families at Barrow, Alaska. The total population consisted of 508 subjects… 
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