We're unable to sign you in at this time. Please try again in a few minutes.
We were able to sign you in, but your subscription(s) could not be found. Please try again in a few minutes.
There may be a problem with your account. Please contact the AMA Service Center to resolve this issue.
Contact the AMA Service Center:
Telephone: 1 (800) 262-2350 or 1 (312) 670-7827  *   Email: subscriptions@jamanetwork.com
Error Message ......
Correspondence |

Hepatoerythropoietic Porphyria and Familial Porphyria Cutanea Tarda in Spanish Patients: G281E Mutation in the Uroporphyrinogen Decarboxylase Gene

Esteve Darwich, MD; Jordi To-Figueras, PhD; Celia Badenas, PhD; Carmen Herrero, MD
Arch Dermatol. 2010;146(11):1313-1314. doi:10.1001/archdermatol.2010.314.
Text Size: A A A
Published online


Elder  GH Porphyria cutanea tarda and related disorders. Kadish  KMSmith  KMGuilard  Reds.The Porphyrin Handbook: Medical Aspects of Porphyria.14 San Diego, CA Academic Press2003;67- 92
Ged  COzalla  DHerrero  C  et al.  Description of a new mutation in hepatoerythropoietic porphyria and prenatal exclusion of a homozygous fetus. Arch Dermatol 2002;138 (7) 957- 960
Roberts  AGElder  GHDe Salamanca  REHerrero  CLecha  MMascaro  JM A mutation (G281E) of the human uroporphyrinogen decarboxylase gene causes both hepatoerythropoietic porphyria and overt familial porphyria cutanea tarda: biochemical and genetic studies on Spanish patients. J Invest Dermatol 1995;104 (4) 500- 502
PubMed Link to Article[[XSLOpenURL/10.1111/jid.1995.104.issue-4]]
Moran-Jimenez  MJGed  CRomana  M  et al.  Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria. Am J Hum Genet 1996;58 (4) 712- 721
de Verneuil  HGrandchamp  BBeaumont  CPicat  CNordmann  Y Uroporphyrinogen decarboxylase structural mutant (Gly281----Glu) in a case of porphyria. Science 1986;234 (4777) 732- 734
PubMed Link to Article[[XSLOpenURL/10.1126/science.3775362]]
Méndez  MPoblete-Gutiérrez  PGarcíia-Bravo  M  et al.  Molecular heterogeneity of familial porphyria cutanea tarda in Spain: characterization of 10 novel mutations in the UROD gene. Br J Dermatol 2007;157 (3) 501- 507
PubMed Link to Article[[XSLOpenURL/10.1111/bjd.2007.157.issue-3]]
Badenas  CTo-Figueras  JPhillips  JDWarby  CAMuñoz  CHerrero  C Identification and characterization of novel uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relatives. Clin Genet 2009;75 (4) 346- 353
PubMed Link to Article[[XSLOpenURL/10.1111/cge.2009.75.issue-4]]
Phillips  JDWhitby  FGStadtmueller  BMEdwards  CQHill  CPKushner  JP Two novel uroporphyrinogen decarboxylase (URO-D) mutations causing hepatoerythropoietic porphyria (HEP). Transl Res 2007;149 (2) 85- 91
PubMed Link to Article[[XSLOpenURL/10.1016/j.trsl.2006.08.006]]
Armstrong  DKSharpe  PCChambers  CRWhatley  SDRoberts  AGElder  GH Hepatoerythropoietic porphyria: a missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion pattern. Br J Dermatol 2004;151 (4) 920- 923
PubMed Link to Article[[XSLOpenURL/10.1111/bjd.2004.151.issue-4]]
Meguro  KFujita  HIshida  N  et al.  Molecular defects of uroporphyrinogen decarboxylase in a patient with mild hepatoerythropoietic porphyria. J Invest Dermatol 1994;102 (5) 681- 685
PubMed Link to Article[[XSLOpenURL/10.1111/jid.1994.102.issue-5]]

Sign in

Purchase Options

• Buy this article
• Subscribe to the journal
• Rent this article ?

First Page Preview

View Large
First page PDF preview





Also Meets CME requirements for:
Browse CME for all U.S. States
Accreditation Information
The American Medical Association is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians. The AMA designates this journal-based CME activity for a maximum of 1 AMA PRA Category 1 CreditTM per course. Physicians should claim only the credit commensurate with the extent of their participation in the activity. Physicians who complete the CME course and score at least 80% correct on the quiz are eligible for AMA PRA Category 1 CreditTM.
Note: You must get at least of the answers correct to pass this quiz.
Please click the checkbox indicating that you have read the full article in order to submit your answers.
Your answers have been saved for later.
You have not filled in all the answers to complete this quiz
The following questions were not answered:
Sorry, you have unsuccessfully completed this CME quiz with a score of
The following questions were not answered correctly:
Commitment to Change (optional):
Indicate what change(s) you will implement in your practice, if any, based on this CME course.
Your quiz results:
The filled radio buttons indicate your responses. The preferred responses are highlighted
For CME Course: A Proposed Model for Initial Assessment and Management of Acute Heart Failure Syndromes
Indicate what changes(s) you will implement in your practice, if any, based on this CME course.


Some tools below are only available to our subscribers or users with an online account.

3 Citations

Sign in

Purchase Options

• Buy this article
• Subscribe to the journal
• Rent this article ?

Related Content

Customize your page view by dragging & repositioning the boxes below.

Articles Related By Topic
Related Collections
PubMed Articles