The porphyrias: clinical presentation, diagnosis and treatment.

No abstract is available for this paper.

• Publication year

  2006

• Venue

  EJD. European journal of dermatology

• Publication date

  2006-05-01

• Fields of study

  Medicine

• Identifiers
  PMID 16709484
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Recommendations for the Diagnosis and Treatment of the Acute Porphyrias

  2005cited by this paper
• Increased mitochondrial respiratory chain enzyme activities correlate with minor extent of liver damage in mice suffering from erythropoietic protoporphyria

  2005cited by this paper
• Porphyrias.

  2005cited by this paper
• The molecular basis of porphyria cutanea tarda in Chile: Identification and functional characterization of mutations in the uroporphyrinogen decarboxylase gene

  2004cited by this paper
• Hemochromatosis (HFE) gene mutations and response to chloroquine in porphyria cutanea tarda.

  2003cited by this paper
• Erythropoietic protoporphyria

  2003cited by this paper
• Subepidermal blistering disorders: a clinical and histopathologic review.

  2003cited by this paper
• Molecular and biochemical studies of acute intermittent porphyria in 196 patients and their families.

  2002cited by this paper
• Congenital erythropoietic porphyria: advances in pathogenesis and treatment

  2002cited by this paper
• The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH

  2002cited by this paper
• Diseases associated with photosensitivity.

  2001cited by this paper
• Diagnosis and Treatment of the Acute Porphyrias: An Interdisciplinary Challenge

  2001cited by this paper
• The management of porphyria cutanea tarda

  2001cited by this paper
• Co-inheritance of mutations in the uroporphyrinogen decarboxylase and hemochromatosis genes accelerates the onset of porphyria cutanea tarda.

  2000cited by this paper
• Porphyrins, porphyrin metabolism and porphyrias. II. Diagnosis and monitoring in the acute porphyrias

  2000cited by this paper
• Congenital Erythropoietic Porphyria

  1998cited by this paper
• Variegate Porphyria: Past, Present and Future

  1998cited by this paper
• The Genetic Bases of the Porphyrias

  1998cited by this paper
• Acute Porphyria: Treatment with Heme

  1998cited by this paper
• Hereditary Coproporphyria

  1998cited by this paper
• Drugs in the acute porphyrias--toxicogenetic diseases.

  1997cited by this paper
• The little imitator--porphyria: a neuropsychiatric disorder.

  1997cited by this paper
• Erythropoietic protoporphyria

  1997cited by this paper
• Review: Molecular pathogenesis of hepatic acute porphyrias

  1996cited by this paper
• Variegate porphyria: diagnostic value of fluorometric scanning of plasma porphyrins.

  1995cited by this paper
• Uroporphyrinogen decarboxylase

  1995cited by this paper
• [Porphyria cutanea tarda, chronic liver disease caused by the C virus and hepatocarcinoma. Clinical case].

  1994cited by this paper
• Terminal hepatic failure in erythropoietic protoporphyria.

  1993cited by this paper
• Early administration of heme arginate for acute porphyric attacks.

  1993cited by this paper
• Severe Liver Disease in Protoporphyria1

  1991cited by this paper
• Severe liver disease in protoporphyria.

  1991cited by this paper
• Acute intermittent porphyria. More than just abdominal pain.

  1989cited by this paper
• Genetics and pathogenesis of human uroporphyrinogen decarboxylase defects.

  1989cited by this paper
• Coupled-enzyme and direct assays for uroporphyrinogen III synthase activity in human erythrocytes and cultured lymphoblasts. Enzymatic diagnosis of heterozygotes and homozygotes with congenital erythropoietic porphyria.

  1987cited by this paper
• Instability of hematin used in the treatment of acute hepatic porphyria.

  1986cited by this paper
• The mitochondrial location of protoporphyrinogen oxidase.

  1985cited by this paper
• New type of hepatic porphyria with porphobilinogen synthase defect and intermittent acute clinical manifestation

  1979cited by this paper
• Familial and sporadic porphyria cutanea

  1978cited by this paper
• Effects of hematin in hepatic porphyria. Further studies.

  1975cited by this paper

• Die Porphyrien

  2022cites this paper
• The Porphyrias

  2022cites this paper
• Laboratory Diagnosis of Porphyria

  2021cites this paper
• Disorders of porphyrin metabolism

  2021cites this paper
• The Porphyrias

  2019cites this paper
• Photosensitization in Porphyrias and Photodynamic Therapy Involves TRPA1 and TRPV1

  2016cites this paper
• Characterisation of the terminal enzymes of haem biosynthesis from Staphylococcus aureus

  2016cites this paper
• Metabolische Erkrankungen der Hämbiosynthese

  2016cites this paper
• Porphyrien

  2016cites this paper
• A Porphyria : Pathophysiology , diagnosis , and treatment

  2016influential citation
• Acute porphyria: The drug demon etiology

  2015cites this paper
• Praktische Aspekte der molekularen Diagnostik bei Genodermatosen

  2015cites this paper
• Porphyria: Pathophysiology, diagnosis, and treatment.

  2015cites this paper
• A case of difficult hemodialysis induction in a patient with acute intermittent porphyria

  2015cites this paper
• Emergency Medicine Trauma and Surgical Care Review Article

  2015cites this paper
• Emergency Medicine, Trauma and Surgical Care

  2015cites this paper
• Characterization of variegate porphyria mutations using a minigene approach.

  2015cites this paper
• Skin Reactions to Light

  2014cites this paper
• Laser and Optical Radiation Safety in Biophotonics

  2014cites this paper
• From metabolism to psychiatric symptoms: psychosis as a manifestation of acute intermittent porphyria.

  2014cites this paper
• Drugs and Acute Porphyrias: Reasons for a Hazardous Relationship

  2014cites this paper
• Genodermatoses. Part II: Other Hereditary Dermatologic Disease

  2014cites this paper
• The role of nutrition in dermatologic diseases: facts and controversies.

  2013cites this paper
• Dermacase. Can you identify this condition? Porphyria cutanea tarda.

  2013cites this paper
• Metabolic diseases with paraneoplastic features

  2013cites this paper
• A case report of porphyria variegata management in the emergency department.

  2012cites this paper
• Clinical Communications: Adults A CASE REPORT OF PORPHYRIA VARIEGATA MANAGEMENT IN THE EMERGENCY DEPARTMENT

  2012cites this paper
• Acute Intermittent Porphyria: A Reversible Cause of Cachexia

  2012influential citation
• Octabromodiphenyl ether — porphyrogenicity after repeated administration to rats

  2012cites this paper
• Role of heme arginate in modulation of inflammation and type 2 diabetes

  2012cites this paper
• Porphyrins profile by high performance liquid chromatography/electrospray ionization tandem mass spectrometry for the diagnosis of porphyria

  2011cites this paper
• A case report : Featuring a young boy presenting with excessive hair growth & red colored urine

  2011cites this paper
• Monogenic Diseases Masquerading as Multiple Sclerosis: A Systematic Review

  2011cites this paper
• [Could Aleijadinho have suffered from scleroderma].

  2011cites this paper
• Skin signs of systemic diseases.

  2011cites this paper
• Aminolevulinic acid synthase of Rhodobacter capsulatus

  2011cites this paper
• Congenital erythropoietic porphyria and Parkinson's disease: clinical association in a patient with a long-term follow-up.

  2011cites this paper
• Porphyrogenic effect of pentabromodiphenyl ether after repeated administration to rats

  2011cites this paper
• Porfirias: quadro clínico, diagnóstico e tratamento

  2010cites this paper
• Acute Exacerbation of Hereditary Coproporphyria Mimics Early Surgical Infection Following Intrathecal Pump Implantation for Chronic Abdominal Pain: A Case Report

  2010cites this paper
• Nutrition and bullous skin diseases.

  2010cites this paper
• Porphyria cutanea tarda and beta‐thalassaemia major: causal or casual?

  2010cites this paper
• The Porphyrias: Clinic, Diagnostics, Novel Investigative Tools and Evolving Molecular Therapeutic Strategies

  2010cites this paper
• Structure and function of enzymes in heme biosynthesis

  2010cites this paper
• Porphyrias: clinical presentation, diagnosis and treatment

  2010cites this paper
• 14 Metabole leverziekten

  2009cites this paper
• Sevoflurane: its action on heme metabolism and Phase I drug metabolizing system.

  2009cites this paper
• Spot urine porphyrins/creatinine ratio profile of healthy Brazilian individuals adjusted for personal habits.

  2009cites this paper
• Calcinosis cutis in porphyria cutanea tarda -- not always a marker of disease activity.

  2009cites this paper
• The biochemistry of heme biosynthesis.

  2008cites this paper
• Genetic and biochemical studies in Argentinean patients with variegate porphyria

  2008cites this paper
• La malattia dell'Aleijadinho potrebbe essere stata una sclerodermia? Could Aleijadinho have suffered from scleroderma?

  2008cites this paper