Hepatoerythropoietic Porphyria

Known as: Porphyrias, Hepatoerythropoietic, Porphyrias, Erythrohepatic, Porphyria, Hepatoerythropoietic 
An autosomal recessive cutaneous porphyria that is due to a deficiency of UROPORPHYRINOGEN DECARBOXYLASE in both the LIVER and the BONE MARROW… (More)

Topic mentions per year

Topic mentions per year

1959-2018
0102019592018

Papers overview

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Highly Cited
2009
Highly Cited
2009
OBJECTIVES This study was designed to evaluate myocardial substrate and high-energy phosphate (HEP) metabolism in asymptomatic… (More)
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Highly Cited
2003
Highly Cited
2003
OBJECTIVES This study evaluated myocardial function in relation to high-energy phosphate (HEP) metabolism in asymptomatic… (More)
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Highly Cited
1999
Highly Cited
1999
Homo sapiens is increasingly being studied within the evolutionary (adaptationist, selectionist) framework favoured by animal… (More)
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Highly Cited
1999
Highly Cited
1999
BACKGROUND Hypertension is an important clinical problem and is often accompanied by left ventricular (LV) hypertrophy and… (More)
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1998
1998
Defects in the enzymes involved in the haem biosynthetic pathway can lead to a group of human diseases known as the porphyrias… (More)
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1996
1996
A deficiency in uroporphyrinogen decarboxylase (UROD) enzyme activity, the fifth enzyme of the heme biosynthetic pathway, is… (More)
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1991
1991
A deficiency in the activity of uroporphyrinogen decarboxylase (URO-D), the fifth enzyme of the haem biosynthetic pathway, is… (More)
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Highly Cited
1986
Highly Cited
1986
The effect of repetitive periods of coronary occlusion on myocardial adenine nucleotides, lactate, and infarct size was studied… (More)
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1984
1984
Uroporphyrinogen decarboxylase activity was measured in hemoglobin-free lysates from two patients with hepatoerythropoietic… (More)
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1981
1981
Uroporphyrinogen decarboxylase levels were measured in haemolysed whole blood or fibroblasts from 3 unrelated patients with… (More)
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