Congenital erythropoietic porphyria in an Indian Child
Congenital Erythropoetic Porphyria (CEP) also called the "Günther disease", is a rare variant of porphyria. It is caused by the deficiency of uroporphyrinogen III synthase (URO-III-synthase), an enzyme in the heme biosynthetic pathway. Clinically, CEP presents with blistering over face an...
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Wolters Kluwer Medknow Publications,
2019-01-01T00:00:00Z.
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| 001 | doaj_01d8ab919bb84ee9bb72c4df8ed6ac09 | ||
| 042 | |a dc | ||
| 100 | 1 | 0 | |a Archana Singal |e author |
| 700 | 1 | 0 | |a M N Kayarkatte |e author |
| 700 | 1 | 0 | |a Deepika Pandhi |e author |
| 245 | 0 | 0 | |a Congenital erythropoietic porphyria in an Indian Child |
| 260 | |b Wolters Kluwer Medknow Publications, |c 2019-01-01T00:00:00Z. | ||
| 500 | |a 2319-7250 | ||
| 500 | |a 10.4103/ijpd.IJPD_67_18 | ||
| 520 | |a Congenital Erythropoetic Porphyria (CEP) also called the "Günther disease", is a rare variant of porphyria. It is caused by the deficiency of uroporphyrinogen III synthase (URO-III-synthase), an enzyme in the heme biosynthetic pathway. Clinically, CEP presents with blistering over face and extremities, scarring, hypertrichosis and dyspigmentation. Acral blistering leads to mutilation of the fingers with acro-osteolysis of distal phalanx We, hereby, report an 8-years-old boy with classical clinical features and porphyrin assays. | ||
| 546 | |a EN | ||
| 690 | |a Congenital erythropoietic porphyria | ||
| 690 | |a porphyria | ||
| 690 | |a uroporphyrinogen III synthase | ||
| 690 | |a Dermatology | ||
| 690 | |a RL1-803 | ||
| 690 | |a Pediatrics | ||
| 690 | |a RJ1-570 | ||
| 655 | 7 | |a article |2 local | |
| 786 | 0 | |n Indian Journal of Paediatric Dermatology, Vol 20, Iss 2, Pp 141-144 (2019) | |
| 787 | 0 | |n http://www.ijpd.in/article.asp?issn=2319-7250;year=2019;volume=20;issue=2;spage=141;epage=144;aulast=Singal | |
| 787 | 0 | |n https://doaj.org/toc/2319-7250 | |
| 856 | 4 | 1 | |u https://doaj.org/article/01d8ab919bb84ee9bb72c4df8ed6ac09 |z Connect to this object online. |