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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
2010
Review
2010
Osteosarcoma: a review of diagnosis, management, and treatment strategies.
Despite significant advancements in the diagnosis and treatment of osteosarcoma to date, overall survival has remained relatively… 
Review
2007
Review
2007
Functional Hepatocellular Heterogeneity
Hepatocytes from the periportal (afferent) and perivenous (efferent) zones of the liver parenchyma differ in their enzyme content… 
Highly Cited
2004
Highly Cited
2004
Molecular Phenotyping of the pal1 and pal2 Mutants of Arabidopsis thaliana Reveals Far-Reaching Consequences on Phenylpropanoid, Amino Acid, and Carbohydrate Metabolism
The first enzyme of the phenylpropanoid pathway, Phe ammonia-lyase (PAL), is encoded by four genes in Arabidopsis thaliana… 
Highly Cited
2002
Highly Cited
2002
Statistical variation of aberration structure and image quality in a normal population of healthy eyes.
A Shack-Hartmann aberrometer was used to measure the monochromatic aberration structure along the primary line of sight of 200… 
Review
1999
Review
1999
Corneal stromal wound healing in refractive surgery: the role of myofibroblasts
Review
1997
Review
1997
Ethanol metabolism, cirrhosis and alcoholism.
  • C. Lieber
  • Clinica chimica acta; international journal of…
  • 1997
  • Corpus ID: 24834151
Highly Cited
1994
Highly Cited
1994
Refractive status in the Beaver Dam Eye Study.
PURPOSE To describe the prevalence of refractive errors in a population of adult Americans. METHODS From 1988 to 1990, 4926… 
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… 
Highly Cited
1977
Highly Cited
1977
Role of striate cortex and superior colliculus in visual guidance of saccadic eye movements in monkeys.
1. We studied the effect of lesions placed in striate cortex or superior colliculus on the detection of visual stimuli and the… 
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.
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