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Metabolic Diseases

Known as: Disease, Metabolic, Metabolic Diseases [Disease/Finding], Metabolic Disorders 
Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN… 
National Institutes of Health

Related topics

Related topics

45 relations

Narrower (17)

AcidosisAmino Acid Metabolism, Inborn ErrorsAmyloidosisCystic Fibrosis
Deficiency of glucose-6-phosphate dehydrogenaseDiabetic KetoacidosisDisorder of electrolytesEndocrine System Diseases

Broader (1)

Disease

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2012
Highly Cited
2012
A 20-Year Follow-up of Young Women With Polycystic Ovary Syndrome
OBJECTIVE: To determine whether hormonal, metabolic, and anthropomorphic parameters change over 20 years in women with polycystic… 
Review
2009
Review
2009
AMPK‐dependent hormonal regulation of whole‐body energy metabolism
AMP‐dependent protein kinase (AMPK) is an evolutionarily conserved serine/threonine protein kinase central to the regulation of… 
Highly Cited
2003
Highly Cited
2003
Human Hepatocyte Isolation and Relationship of Cell Viability to Early Graft Function
Hepatocyte transplantation is emerging as an additional modality of treatment for patients with acute liver failure or liver… 
Highly Cited
1985
Highly Cited
1985
Studies of kidney and muscle biopsy specimens from identical twins discordant for type I diabetes mellitus.
To distinguish metabolic from genetic factors in the development of microangiopathy in diabetes, we evaluated biopsy specimens of… 
Highly Cited
1973
Highly Cited
1973
Allopurinol treatment of uric-acid disorders in calcium-stone formers.
Highly Cited
1973
Highly Cited
1973
Protein kinase activity in erythrocyte ghosts of patients with myotonic muscular dystrophy.
Myotonic muscular dystrophy is a disorder of humans that involves many organ systems. Physiological studies have suggested that… 
Highly Cited
1973
Highly Cited
1973
Tyrosinemia with plantar and palmar keratosis and keratitis.
Review
1970
Review
1970
Prenatal genetic diagnosis. I.
Review
1967
Review
1967
Myocardial metabolism in cardiac hypoxia.
Highly Cited
1965
Highly Cited
1965
Correlative studies of growth hormone and insulin plasma concentrations with metabolic abnormalities in acromegaly.
Abstract Growth hormone concentrations were measured in the plasma of 59 individuals with acromegaly. In addition, 12 acromegalic… 
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