|1.||Phillips, J D: 5 articles (09/2011 - 01/2001)|
|2.||Méndez, Manuel: 4 articles (06/2013 - 02/2004)|
|3.||Anderson, Karl E: 4 articles (12/2012 - 02/2002)|
|4.||Phillips, John D: 4 articles (12/2011 - 10/2002)|
|5.||Kushner, James P: 4 articles (12/2011 - 10/2002)|
|6.||Morán-Jiménez, María-Josefa: 3 articles (06/2013 - 08/2010)|
|7.||Lee, Chul: 3 articles (12/2012 - 03/2010)|
|8.||Grady, James J: 3 articles (12/2012 - 03/2010)|
|9.||Franklin, Michael R: 3 articles (12/2011 - 10/2002)|
|10.||Badenas, C: 3 articles (09/2011 - 08/2008)|
|1.||Porphyria Cutanea Tarda
01/01/2003 - "In this study 53 unrelated Danish patients with porphyria cutanea tarda were classified according to uroporphyrinogen decarboxylase and haemochromatosis gene mutations and the genotype related to the clinical and biochemical data. "
09/01/1989 - "Erythrocyte uroporphyrinogen decarboxylase activity in porphyria cutanea tarda: a study of 40 consecutive patients."
06/10/2013 - "Porphyria cutanea tarda (PCT) results from decreased activity of uroporphyrinogen decarboxylase (UROD) in the liver. "
04/01/2012 - "Porphyria cutanea tarda (PCT) is caused by decreased activity of uroporphyrinogen decarboxylase (UROD) in the liver. "
12/01/2010 - "Porphyria cutanea tarda (PCT) is a metabolic disorder that results in a decrease in uroporphyrinogen decarboxylase activity. "
04/01/1996 - "Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria."
05/01/1987 - "Immunochemical study of uroporphyrinogen decarboxylase in a patient with mild hepatoerythropoietic porphyria."
09/01/2011 - "Hepatoerythropoietic porphyria due to a novel mutation in the uroporphyrinogen decarboxylase gene."
02/01/2007 - "Two novel uroporphyrinogen decarboxylase (URO-D) mutations causing hepatoerythropoietic porphyria (HEP)."
10/01/2000 - "Morpholinos targeted to the uroporphyrinogen decarboxylase gene result in embryos with hepatoerythropoietic porphyria. "
10/01/2010 - "The diagnosis of type I sporadic PCT was based on high levels of porphyria and normal erythrocytic uroporphyrinogen decarboxylase activity. "
08/01/2008 - "Childhood-onset mild cutaneous porphyria with compound heterozygotic mutations in the uroporphyrinogen decarboxylase gene."
08/01/2005 - "Identification of a mutation in the ovine uroporphyrinogen decarboxylase (UROD) gene associated with a type of porphyria."
11/01/1996 - "Five new mutations in the uroporphyrinogen decarboxylase gene identified in families with cutaneous porphyria."
10/21/1989 - "There was a similar 27% decrease in mean uroporphyrinogen decarboxylase activity of haemolysates from the same dual porphyria group (P less than 0.01). "
|4.||Hepatic Porphyrias (Hepatic Porphyria)
04/01/1979 - "A defect in the activity of uroporphyrinogen decarboxylase may exist in cutaneous hepatic porphyria but this could not be demonstrated in erythrocytes in this study."
09/01/1978 - "[Uroporphyrinogen decarboxylase in erythrocytes: studies on the primary genetic enzyme defect in chronic hepatic porphyria (author's transl)]."
01/01/1987 - "In contrast, exposure to dioxin on the part of persons with inherited uroporphyrinogen decarboxylase deficiency can cause latent chronic hepatic porphyria to develop into PCT. "
01/01/1985 - "Of the patients, 84% showed a significant decrease of erythrocyte uroporphyrinogen-decarboxylase (UD; EC 126.96.36.199) activity to approximately 50% of control levels suggesting a hereditary predisposition for the development of a chronic hepatic porphyria. "
02/15/1984 - "Erythrocyte uroporphyrinogen decarboxylase activity studied in six cases with initial chronic hepatic porphyria was normal, suggesting that VC affects only this enzyme in the liver."
|5.||Erythropoietic Porphyria (Congenital Erythropoietic Porphyria)
01/01/1997 - "Whereas congenital erythropoietic porphyria was metabolically and clinically overt, a hereditary deficiency of uroporphyrinogen decarboxylase was confirmed by family study. "
11/01/1998 - "Reasons are discussed in the context of biochemical differences between this patient with classical Gunther's disease and the similar clinical syndrome due to deficiency of uroporphyrinogen decarboxylase."
01/01/1997 - "A hitherto undescribed dual deficiency of uroporphyrinogen III synthase and uroporphyrinogen decarboxylase was observed in the erythrocytes in a 14 year-old patient who had presented with congenital erythropoietic porphyria since early childhood. "
04/01/1982 - "Congenital erythropoietic porphyria, diminished activity of uroporphyrinogen decarboxylase and dyserythropoiesis."
|2.||DNA (Deoxyribonucleic Acid)
|5.||Cytochrome P-450 CYP1A1 (CYP1A1)
|7.||Genetic Markers (Genetic Marker)
|8.||Blood Group Antigens (Blood Groups)
|2.||Renal Dialysis (Hemodialysis)