|1.||Hereditary Coproporphyria (Coproporphyrinogen Oxidase Deficiency)
|3.||Acute Intermittent Porphyria (Porphyria, Acute)
|4.||Inborn Genetic Diseases (Disease, Hereditary)
|1.||Desnick, Robert J: 9 articles (11/2012 - 06/2002)|
|2.||de Verneuil, Hubert: 8 articles (11/2013 - 02/2005)|
|3.||Ged, Cécile: 7 articles (11/2013 - 02/2005)|
|4.||de Verneuil, H: 6 articles (10/2012 - 03/2001)|
|5.||Ged, C: 6 articles (10/2012 - 03/2001)|
|6.||Bishop, David F: 6 articles (01/2011 - 06/2002)|
|7.||Millet, Oscar: 5 articles (11/2014 - 01/2009)|
|8.||Richard, Emmanuel: 5 articles (11/2013 - 06/2008)|
|9.||Moreau-Gaudry, François: 5 articles (07/2012 - 01/2008)|
|10.||Lalanne, Magalie: 4 articles (11/2013 - 01/2008)|
07/01/1993 - "The administration of oral activated charcoal to two patients with congenital erythropoietic porphyria has previously been reported to result in a marked reduction in plasma and urinary porphyrin concentrations and in one case, clinical remission. "
11/01/1990 - "Rapid improvement in the chemical pathology of congenital erythropoietic porphyria with treatment with superactivated charcoal."
02/12/1987 - "Therapeutic efficacy of oral charcoal in congenital erythropoietic porphyria."
04/14/1994 - "Lack of effect of oral charcoal in congenital erythropoietic porphyria."
01/01/1994 - "Plasmasorbent therapy with activated charcoal column for congenital erythropoietic porphyria."
06/01/2005 - "Urine high-performance thin-layer chromatography showed that excreted porphyrins were 90-95% of the type-I isomeric form, suggestive of congenital erythropoietic porphyria."
10/01/2002 - "Need for measurement of porphyrins in teardrops in patients with congenital erythropoietic porphyria."
10/01/2001 - "Ocular involvement caused by the accumulation of porphyrins in a patient with congenital erythropoietic porphyria."
06/01/1997 - "Congenital erythropoietic porphyria (CEP) is an inherited metabolic disorder characterized by an overproduction and accumulation of porphyrins in bone marrow. "
01/01/1995 - "Congenital erythropoietic porphyria (CEP) is a genetic disease characterized by an overproduction and accumulation of porphyrins in bone marrow. "
|6.||Ascorbic Acid (Vitamin C)FDA LinkGeneric
|7.||Uroporphyrinogen III Synthetase (Uroporphyrinogen-III Synthase)IBA
04/01/2012 - "Previous studies have shown that congenital erythropoietic porphyria (CEP) in cattle is caused by an inherited deficiency of the enzyme uroporphyrinogen III synthase (UROS) encoded by the UROS gene. "
01/01/2011 - "Structural, thermodynamic, and mechanistical studies in uroporphyrinogen III synthase: molecular basis of congenital erythropoietic porphyria."
09/01/2010 - "The first feline model of human congenital erythropoietic porphyria (CEP) due to deficient uroporphyrinogen III synthase (URO-synthase) activity was identified by its characteristic clinical phenotype, and confirmed by biochemical and molecular genetic studies. "
01/20/2009 - "In the present study we have investigated deleterious mutants in the uroporphyrinogen III synthase (UROIIIS) that are related to the congenital erythropoietic porphyria (CEP). "
10/01/1998 - "Immunological, enzymatic and biochemical studies of uroporphyrinogen III-synthase deficiency in 20 patients with congenital erythropoietic porphyria."
01/01/2009 - "Congenital erythropoietic porphyria is a rare error of heme metabolism. "
05/01/2003 - "Congenital erythropoietic porphyria (CEP) is an extremely rare autosomal recessively inherited disorder characterized by mutilating cutaneous photosensitivity and abnormal porphyrin heme synthesis in bone marrow. "
09/01/1998 - "Congenital erythropoietic porphyria: prolonged high-level expression and correction of the heme biosynthetic defect by retroviral-mediated gene transfer into porphyric and erythroid cells."
06/13/1997 - "This defect in heme biosynthesis is responsible for a rare autosomal recessive disease: congenital erythropoietic porphyria (CEP) or Günther's disease. "
06/01/1997 - "This autosomal recessive disease results from a deficiency of uroporphyrinogen III synthase (UROIIIS), the fourth enzyme of the haem biosynthetic pathway. "
07/01/1979 - "Studies on porphyrin biosynthesis and enzymes involved in bovine congenital erythropoietic porphyria."
06/01/1973 - "Erythrocytic enzymes and glycolytic intermediates in the normal bovine and in bovine erythropoietic porphyria."
12/01/1999 - "Now that chromosomal assignments for all the genes of the defective enzymes have been mode, prenatal diagnosis is possible for congenital erythropoietic porphyria, and in vitro gene therapy has been successfully performed for congenital erythropoietic porphyria and erythropoietic protoporphyria."
01/01/1990 - "The hepatic and erythropoietic porphyrias are shown to be hereditary or acquired disorders characterized by defects in specific enzymes of the heme biosynthetic pathway. "
05/22/1980 - "Partial deficiencies in enzymes activity of the heme biosynthesis pathway have been demonstrated in cultured skin fibroblasts and other tissues from patients suffering from congenital erythropoietic porphyria and hereditary coproporphyria. "
|10.||Uroporphyrinogen Decarboxylase (Uroporphyrinogen III Decarboxylase)IBA
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."
04/01/1982 - "Congenital erythropoietic porphyria, diminished activity of uroporphyrinogen decarboxylase and dyserythropoiesis."
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. "
|2.||Bone Marrow Transplantation (Transplantation, Bone Marrow)
04/01/1995 - "Murine models of erythropoietic porphyrias are being used for bone-marrow transplantation experiments to study the features of erythropoietic and hepatic abnormalities. "
01/01/2012 - "Bone marrow transplantation improves symptoms of congenital erythropoietic porphyria even when done post puberty."
06/01/2008 - "Bone marrow transplantation is considered as the only curative treatment for severe cases of erythropoietic porphyria (especially CEP), if donors are available. "
03/01/2007 - "Allogeneic bone marrow transplantation in a 7-year-old girl with congenital erythropoietic porphyria: a treatment dilemma."
02/01/2005 - "Successful match-unrelated donor bone marrow transplantation for congenital erythropoietic porphyria (Günther disease)."
10/01/2001 - "Autologous skin graft transplantation for refractory ulcer hand associated with congenital erythropoietic porphyria."
11/29/2012 - "Knowledge of these advances is relevant for hematologists because they administer the hematin infusions to treat the acute attacks in patients with the acute hepatic porphyrias, perform the chronic phlebotomies to reduce the iron overload and clear the dermatologic lesions in porphyria cutanea tarda, and diagnose and treat the erythropoietic porphyrias, including chronic erythrocyte transfusions, bone marrow or hematopoietic stem cell transplants, and experimental pharmacologic chaperone and stem cell gene therapies for congenital erythropoietic protoporphyria. "
01/01/2012 - "Knowledge of these advances is relevant for hematologists because they administer the hematin infusions to treat the acute attacks in patients with the acute hepatic porphyrias, perform the chronic phlebotomies to reduce the iron overload and clear the dermatologic lesions in porphyria cutanea tarda, and diagnose and treat the erythropoietic porphyrias, including chronic erythrocyte transfusions, bone marrow or hematopoietic stem cell transplants, and experimental pharmacologic chaperone and stem cell gene therapies for congenital erythropoietic protoporphyria. "
|4.||Blood Transfusion (Blood Transfusions)
11/01/1995 - "A 9-year-old boy with typical features of congenital erythropoietic porphyria who had received more than 50 blood transfusions developed the steroid-resistant nephrotic syndrome in the presence of normal glomerular function and glucosuria. "
06/01/2015 - "Congenital erythropoietic porphyria (CEP) is a rare genetic disease that is characterized by a severe cutaneous photosensitivity causing unrecoverable deformities, chronic hemolytic anemia requiring blood transfusion program, and by fatal systemic complications. "
11/01/1998 - "Porphyrins in urine, plasma, erythrocytes, bile and faeces in a case of congenital erythropoietic porphyria (Gunther's disease) treated with blood transfusion and iron chelation: lack of benefit from oral charcoal."
|5.||Stem Cell Transplantation
02/01/2005 - "Considering the severity of the disease, if HLA-matched sibling donor is not available, haematopoietic stem cell transplantation using a matched unrelated donor should be strongly considered for treating congenital erythropoietic porphyria since this is currently the only known curative therapy."
01/01/2001 - "Treatment of congenital erythropoietic porphyria in children by allogeneic stem cell transplantation: a case report and review of the literature."