enzymopathy

Known as: enzyme disorder, disorders enzyme, disorders enzymes 
 
National Institutes of Health

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2010
2010
OBJECTIVES Peroxisome assembly disorders are genetic disorders characterized by biochemical abnormalities, including low… (More)
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2010
2010
Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzyme disorder in human. The aim of this… (More)
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Highly Cited
2009
Highly Cited
2009
Glucose-6-phosphate dehydrogenase (G6PD) deficiency--the most common known enzymopathy--is associated with neonatal jaundice and… (More)
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2007
2007
MOTIVATION A very promising approach in drug discovery involves the integration of available biomedical data through mathematical… (More)
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2006
2006
Heritable mutations, known as inborn errors of metabolism, cause numerous devastating human diseases, typically as a result of a… (More)
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Highly Cited
2002
Highly Cited
2002
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymopathy in humans. Deficiency alleles for this X… (More)
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2001
2001
141 children with different kinds of intestinal enzymopathy were examined; of these, 33 had celiac disease, 39--the syndrome of… (More)
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Highly Cited
2000
Highly Cited
2000
BACKGROUND Glucose-6-phosphate dehydrogenase (G6PD) catalyses the first committed step in the pentose phosphate pathway; the… (More)
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1989
1989
Acute renal failure (ARF) is not listed as a usual form of presentation in hypoxanthineguanine phosphoribosyltransferase… (More)
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1979
1979
We report a third case of 2, 8-dihydroxyadenine stones in a child with a complete lack of the adenine salvage enzyme--adenine… (More)
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