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Protein Deficiency

Known as: Deficiencies, Protein, Protein Deficiencies, Protein Deficiency [Disease/Finding] 
A nutritional condition produced by a deficiency of proteins in the diet, characterized by adaptive enzyme changes in the liver, increase in amino… Expand
National Institutes of Health

Papers overview

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Highly Cited
2012
Highly Cited
2012
Background: The functional importance of Parkin in the heart is unknown. Results: Parkin deficiency results in increased… Expand
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Highly Cited
2010
Highly Cited
2010
Perrault syndrome is a recessive disorder characterized by ovarian dysgenesis in females, sensorineural deafness in both males… Expand
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Highly Cited
2009
Highly Cited
2009
The fatal immune dysregulation that sometimes follows EBV infection in boys has been linked to mutations in two X chromosome… Expand
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Highly Cited
2008
Highly Cited
2008
Mutations in several ribosomal proteins (RPs) lead to Diamond-Blackfan anemia (DBA), a syndrome characterized by defective… Expand
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Highly Cited
2007
Highly Cited
2007
Fragile X syndrome (FXS), a common inherited form of mental retardation, is caused by the functional absence of the fragile X… Expand
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Highly Cited
2001
Highly Cited
2001
Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is characterized by degeneration of the large sensory… Expand
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Highly Cited
1997
Highly Cited
1997
Friedreich ataxia (FRDA) is a common autosomal recessive degenerative disease (1/50,000 live births) characterized by a… Expand
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Highly Cited
1990
Highly Cited
1990
BACKGROUND Isolated deficiencies of antithrombin III, protein C, protein S, and plasminogen have been implicated as a cause of… Expand
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Highly Cited
1989
Highly Cited
1989
PLASMA high density lipoproteins (HDL) are a negative risk factor for atherosclerosis. Increased HDL is sometimes clustered in… Expand
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Highly Cited
1981
Highly Cited
1981
A family with a history of recurring thrombosis was studied to determine if a plasma protein deficiency could account for the… Expand
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