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Hydroxymethylbilane Synthase Deficiency

Known as: PORPHOBILINOGEN DEAMINASE DEFICIENCY, Deficiency, Uroporphyrinogen Synthase, Deficiencies, Uroporphyrinogen Synthase 
National Institutes of Health

Papers overview

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Review
2008
Review
2008
Distribution of micronutrient powder (MNP), also known as Sprinkles™, is becoming a preferred strategy for addressing… 
Review
2005
Review
2005
A retrospective chart review was performed at 3 Swedish hospitals to evaluate the utilization, outcomes, and cost of using… 
2002
2002
We report observations of the CO(1!0), CO(2!1) and 13 CO(1!0) line emission from the giant molec- ular complex No. 37 of the… 
2002
2002
Telomerase is a ribonucleoprotein enzyme which is endogenously expressed in germ, stem and tumor cells, but absent in benign… 
2000
2000
Abstract. Acute intermittent porphyria (AIP), the most common acute hepatic porphyria, is a low-penetrant autosomal dominant… 
Highly Cited
1996
Highly Cited
1996
Accumulation of citric acid by Aspergillus niger depends on a high flux through glycolysis. We have investigated the possibility… 
1987
1987
Experimental porphyria induced by PHAHs is characterized by a progressive reduction in the activity of UROD. After intoxication…