Porphyria cutanea tarda: A novel mutation
A 5 year old child with waxing and waning vesicobullous lesions on exposed parts since two years. Blood porphyrin levels were increased and Woods lamp revealed erythrodontia. DNA analysis showed the child was homozygous and both parents were heterozygous for a novel pathogenic mutation V256M in urop...
保存先:
| 主要な著者: | , , , , , |
|---|---|
| フォーマット: | 図書 |
| 出版事項: |
Elsevier,
2016-05-01T00:00:00Z.
|
| 主題: | |
| オンライン･アクセス: | Connect to this object online. |
| タグ: |
タグ追加
タグなし, このレコードへの初めてのタグを付けませんか!
|
MARC
| LEADER | 00000 am a22000003u 4500 | ||
|---|---|---|---|
| 001 | doaj_bcac37f67bf84ca5a84fb93aa6b5f38a | ||
| 042 | |a dc | ||
| 100 | 1 | 0 | |a Rajesh Patil |e author |
| 700 | 1 | 0 | |a Bhavna Dhingra |e author |
| 700 | 1 | 0 | |a Dinesh Asati |e author |
| 700 | 1 | 0 | |a Garima Goel |e author |
| 700 | 1 | 0 | |a Ujjawal Khurana |e author |
| 700 | 1 | 0 | |a Girish Chandra Bhatt |e author |
| 245 | 0 | 0 | |a Porphyria cutanea tarda: A novel mutation |
| 260 | |b Elsevier, |c 2016-05-01T00:00:00Z. | ||
| 500 | |a 2468-1245 | ||
| 500 | |a 10.1016/j.phoj.2016.04.001 | ||
| 520 | |a A 5 year old child with waxing and waning vesicobullous lesions on exposed parts since two years. Blood porphyrin levels were increased and Woods lamp revealed erythrodontia. DNA analysis showed the child was homozygous and both parents were heterozygous for a novel pathogenic mutation V256M in uroporphyrinogen decarboxylase gene, thus diagnosed as type II recessive form of porphyria cutanea tarda. The child responded to sunscreens and antioxidants. | ||
| 546 | |a EN | ||
| 690 | |a Porphyria | ||
| 690 | |a Mutation | ||
| 690 | |a Uroporphyrinogen decarboxylase | ||
| 690 | |a Pediatrics | ||
| 690 | |a RJ1-570 | ||
| 655 | 7 | |a article |2 local | |
| 786 | 0 | |n Pediatric Hematology Oncology Journal, Vol 1, Iss 1, Pp 18-19 (2016) | |
| 787 | 0 | |n http://www.sciencedirect.com/science/article/pii/S2468124516300092 | |
| 787 | 0 | |n https://doaj.org/toc/2468-1245 | |
| 856 | 4 | 1 | |u https://doaj.org/article/bcac37f67bf84ca5a84fb93aa6b5f38a |z Connect to this object online. |