deficiency of reductase

Known as: Reductase Deficiency 
A deficiency in an enzyme that promotes reduction of an organic compound.
National Institutes of Health

Papers overview

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Review
2008
Review
2008
Some 60 years ago, Quentin Gibson reported the first hereditary disorder involving an enzyme when he deduced that familial… (More)
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2007
2007
Over a four-year period, we collected clinical and biochemical data from five Amish children who were homozygous for missense… (More)
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Highly Cited
2005
Highly Cited
2005
In 15-month-old db/db mice, signs of diabetic retinopathy, including blood-retinal barrier breakdown, loss of pericytes, neuro… (More)
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Highly Cited
2004
Highly Cited
2004
Cerebral folate deficiency (CFD) can be defined as any neurological syndrome associated with low cerebrospinal fluid (CSF) 5… (More)
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Highly Cited
2003
Highly Cited
2003
In cortisone reductase deficiency (CRD), activation of cortisone to cortisol does not occur, resulting in adrenocorticotropin… (More)
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Highly Cited
2003
Highly Cited
2003
Hyperhomocysteinemia, a proposed risk factor for cardiovascular disease, is also observed in other common disorders. The most… (More)
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1996
1996
We describe two female siblings who had production of cortisol (F; as determined from excretion of urinary metabolites) high… (More)
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Review
1996
Review
1996
  • Rima Rozen
  • Journal of inherited metabolic disease
  • 1996
In severe MTHFR deficiency with neonatal or adolescent onset, 9 rare mutations have been identified. In mild MTHFR deficiency… (More)
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Review
1993
Review
1993
In the 20 yr since it was established that impairment of dihydrotestosterone formation is the cause of a rare form of human… (More)
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Highly Cited
1974
Highly Cited
1974
In male pseudohermaphrodites born with ambiguity of the external genitalia but with marked virilization at puberty, biochemical… (More)
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