Congenital erythropoietic porphyria: advances in pathogenesis and treatment

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A novel point mutation in congenital erythropoietic porphyria in two members of Japanese family

May 1, 1996·Human Genetics·K TanigawaC Ged

Correction of congenital erythropoietic porphyria by bone marrow transplantation

Sep 1, 1996·The Journal of Pediatrics·C ThomasS Blanche

Prenatal diagnosis in congenital erythropoietic porphyria by metabolic measurement and DNA mutation analysis

Jan 1, 1996·Prenatal Diagnosis·C GedH de Verneuil

Molecular basis of congenital erythropoietic porphyria: mutations in the human uroporphyrinogen III synthase gene

Jan 1, 1996·Human Mutation·W XuRobert J Desnick

Correction of the enzyme deficit of bone marrow cells in congenital erythropoietic porphyria by retroviral gene transfer

Apr 1, 1996·Hematology and Cell Therapy·F Moreau-GaudryH de Verneuil

A systematic analysis of the mutations of the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria

Jan 1, 1996·European Journal of Human Genetics : EJHG·A FontanellasC Ged

Congenital erythropoietic porphyria

Apr 1, 1997·Journal of the American Academy of Dermatology·C FritschG Goerz

Interdependence between degree of porphyrin excess and disease severity in congenital erythropoietic porphyria (Günther's disease)

Apr 1, 1997·Archives of Dermatological Research·A G FreesemannM O Doss

Novel point mutation in the uroporphyrinogen III synthase gene causes congenital erythropoietic porphyria of a Japanese family

Jun 13, 1997·American Journal of Medical Genetics·N TakamuraS Yamashita

Gene transfer of the uroporphyrinogen III synthase cDNA into haematopoietic progenitor cells in view of a future gene therapy in congenital erythropoietic porphyria

Jun 1, 1997·Journal of Inherited Metabolic Disease·F MazurierH de Verneuil

Coupled assay for uroporphyrinogen III synthase

Jan 1, 1997·Methods in Enzymology·P M Shoolingin-Jordan, R Leadbeater

Molecular genetics of congenital erythropoietic porphyria

Mar 28, 1998·Seminars in Liver Disease·Robert J DesnickKenneth H Astrin

Congenital erythropoietic porphyria: prolonged high-level expression and correction of the heme biosynthetic defect by retroviral-mediated gene transfer into porphyric and erythroid cells

Oct 27, 1998·Molecular Genetics and Metabolism·R KauppinenRobert J Desnick

C73R is a hotspot mutation in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria

Nov 6, 1998·Annals of Human Genetics·J FrankA M Christiano

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

Dec 23, 1998·Biomedical Chromatography : BMC·A GorcheinA J Bellingham

Congenital erythropoietic porphyria

May 27, 1999·Skin Pharmacology and Applied Skin Physiology·C FritschT Ruzicka

Non-erythroid form of acute intermittent porphyria caused by promoter and frameshift mutations distant from the coding sequence of exon 1 of the HMBS gene

Nov 9, 2000·Human Genetics·S D WhatleyG H Elder

Human uroporphyrinogen-III synthase: genomic organization, alternative promoters, and erythroid-specific expression

Dec 9, 2000·Genomics·G I AizencangRobert J Desnick

Congenital erythropoietic porphyria: prenatal diagnosis and autopsy findings in two sibling fetuses

Feb 15, 2001·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·F Daïkha-DahmaneF Muller

Treatment of congenital erythropoietic porphyria in children by allogeneic stem cell transplantation: a case report and review of the literature

Mar 13, 2001·Bone Marrow Transplantation·P H ShawM Kletzel

Uroporphyrinogen III synthase erythroid promoter mutations in adjacent GATA1 and CP2 elements cause congenital erythropoietic porphyria

Mar 20, 2001·The Journal of Clinical Investigation·C SolisRobert J Desnick

Correction of deficient CD34+ cells from peripheral blood after mobilization in a patient with congenital erythropoietic porphyria

Mar 29, 2001·Molecular Therapy : the Journal of the American Society of Gene Therapy·F MazurierH de Verneuil

Treatment of severe congenital erythropoietic porphyria by bone marrow transplantation

Jul 21, 2001·Journal of the American Academy of Dermatology·F A HaradaH W Lim

Crystal structure of human uroporphyrinogen III synthase

Nov 2, 2001·The EMBO Journal·M A MathewsC P Hill

Congenital erythropoietic porphyria: identification and expression of eight novel mutations in the uroporphyrinogen III synthase gene

Jun 13, 2002·British Journal of Haematology·Amr A ShadyRobert J Desnick

Porphyrin content of bone marrow and liver in the various forms of porphyria

Feb 1, 1954·A.M.A. Archives of Internal Medicine·R SCHMIDC J WATSON

Haematological aspects in a case of erythropoietic porphyria

Jul 1, 1958·British Journal of Haematology·S VARADI

Some studies of the comparative biology of human and bovine erythropoietic porphyria

Mar 1, 1959·A.M.A. Archives of Internal Medicine·C J WATSONS SCHWARTZ

Effect of splenectomy on antrycide therapy of trypanosoma evansi infection in rats

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Laboratory tests and therapeutic strategies for the porphyrias

Jun 6, 2006·Der Hautarzt; Zeitschrift für Dermatologie, Venerologie, und verwandte Gebiete·P Poblete-GutiérrezJ Frank

Congenital erythropoietic porphyria: anesthetic implications

Nov 19, 2009·Journal of Anesthesia·Mritunjay KumarJyotsna Punj

Epilepsy and porphyria: new perspectives

Apr 15, 2004·Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia·Carlo Solinas, Frank J Vajda

Pregnancy in a patient with congenital erythropoietic porphyria

Aug 10, 2007·The New England Journal of Medicine·Nirmala HallaiM N Badminton

Intracellular rescue of the uroporphyrinogen III synthase activity in enzymes carrying the hotspot mutation C73R.

Feb 24, 2011·The Journal of Biological Chemistry·Arola FortianOscar Millet

Report of a novel Indian case of congenital erythropoietic porphyria and overview of therapeutic options

Apr 25, 2013·Journal of Pediatric Hematology/oncology·Meenu PandeyAnju Seth

Microcytic anemia, erythropoietic protoporphyria, and neurodegeneration in mice with targeted deletion of iron-regulatory protein 2.

Apr 16, 2005·Blood·Sharon S CoopermanTracey A Rouault

Congenital erythropoietic porphyria: characterization of murine models of the severe common (C73R/C73R) and later-onset genotypes

Mar 3, 2011·Molecular Medicine·David F BishopRobert J Desnick

Congenital erythropoietic porphyria: two case reports

May 17, 2011·Indian Journal of Dermatology·Sankha Koley, Vikrant Saoji

Phylogenetic analysis of uroporphyrinogen III synthase (UROS) gene

Jan 1, 2013·Bioinformation·Abjal Pasha ShaikAsma Sultana

The cutaneous porphyrias

Jun 4, 2014·Dermatologic Clinics·Danja Schulenburg-BrandM N Badminton

Successful match-unrelated donor bone marrow transplantation for congenital erythropoietic porphyria (Günther disease)

Feb 11, 2005·European Journal of Pediatrics·Sophie Dupuis-GirodYves Bertrand

Tuning intracellular homeostasis of human uroporphyrinogen III synthase by enzyme engineering at a single hotspot of congenital erythropoietic porphyria

Jun 14, 2014·Human Molecular Genetics·Fredj ben BdiraOscar Millet

The role of photography in dermatology research

Mar 9, 2012·Journal of Visual Communication in Medicine·R P Katugampola, Amy Lake

New developments in erythropoietic porphyrias

Jul 7, 2012·Actas dermo-sifiliográficas·E Darwich, Carmen Herrero

Hemolytic anemia in adults: Main causes and diagnostic procedure

Feb 8, 2011·La Presse médicale·Valentine LoustauMarc Michel

Erythropoietic uroporphyria associated with myeloid malignancy is likely distinct from autosomal recessive congenital erythropoietic porphyria

Feb 18, 2011·The Journal of Investigative Dermatology·Robert P E SarkanyG H Elder

Congenital erythropoietic porphyria: report of a novel mutation with absence of clinical manifestations in a homozygous mutant sibling

Aug 12, 2004·The Journal of Investigative Dermatology·C GedH de Verneuil

The eye and the skin in nonendocrine metabolic disorders

Feb 24, 2016·Clinics in Dermatology·Julio A Urrets-ZavalíaAndrzej Grzybowski

Study of the genotype-phenotype relationship in four cases of congenital erythropoietic porphyria

Feb 3, 2007·Blood Cells, Molecules & Diseases·J To-FiguerasCarmen Herrero

Allogeneic bone marrow transplantation in a 7-year-old girl with congenital erythropoietic porphyria: a treatment dilemma

Feb 16, 2007·The British Journal of Dermatology·S M TaibjeeM N Badminton

Compound heterozygosity for a premature termination codon and missense mutation in the exon 10 of the uroporphyrinogen III cosynthase gene causes a severe phenotype of congenital erythropoietic porphyria

Jul 24, 2008·Journal of the European Academy of Dermatology and Venereology : JEADV·T-W KangS-C Kim

Unrelated HSCT in an adolescent affected by congenital erythropoietic porphyria

Jan 12, 2008·Pediatric Transplantation·Maura FaraciBarbara Cappelli

Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases

Jul 24, 2012·The British Journal of Dermatology·R P KatugampolaA V Anstey

Successful treatment of congenital erythropoietic porphyria using matched unrelated hematopoietic stem cell transplantation

Apr 6, 2013·Pediatric Dermatology·Carmen Martinez PeinadoCarmen Herrero

A management algorithm for congenital erythropoietic porphyria derived from a study of 29 cases

Jul 19, 2012·The British Journal of Dermatology·R P KatugampolaM N Badminton

Cutaneous porphyrias part II: treatment strategies

Oct 19, 2013·International Journal of Dermatology·Suzanne TintleDawn Marie R Davis

Inducing iron deficiency improves erythropoiesis and photosensitivity in congenital erythropoietic porphyria.

May 15, 2015·Blood·Daniel N EganJanis L Abkowitz

Hematopoietic chimerism and central tolerance created by peripheral-tolerance induction without myeloablative conditioning

Sep 4, 2003·The Journal of Clinical Investigation·Edward SeungDale L Greiner

Biosynthesis of heme in mammals

Jul 15, 2006·Biochimica Et Biophysica Acta·Richard S AjiokaJames P Kushner

Günther disease in an infant

Jan 13, 2010·Hematology/oncology and Stem Cell Therapy·Yasmeen BhatAsif Baba

Practice guidelines for the diagnosis and management of microcytic anemias due to genetic disorders of iron metabolism or heme synthesis.

Mar 26, 2014·Blood·Albertine E DonkerDorine W Swinkels

The porphyrias: advances in diagnosis and treatment.

Jul 14, 2012·Blood·Manisha Balwani, Robert J Desnick

ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria

Jun 10, 2011·Blood·J To-FiguerasHerve Puy

UROS and ALAS-2: erstwhile partners in crime

Aug 13, 2011·Blood·H Franklin Bunn

Congenital erythropoietic porphyria: a novel uroporphyrinogen III synthase branchpoint mutation reveals underlying wild-type alternatively spliced transcripts

Dec 8, 2009·Blood·David F BishopRobert J Desnick

Advances in understanding the pathogenesis of congenital erythropoietic porphyria

Mar 13, 2016·British Journal of Haematology·Elena Di PierroFrancesca Granata

Late-onset cutaneous porphyria in a patient heterozygous for a uroporphyrinogen III synthase gene mutation

Apr 19, 2016·The British Journal of Dermatology·P AguileraJ To-Figueras

Congenital Erythropoietic Porphyria With Calcific Constrictive Pericarditis: A Case Report and Brief Review of Literature

Oct 16, 2015·World Journal for Pediatric & Congenital Heart Surgery·Ujjwal K ChowdhuryManoj Sahu

Congenital erythropoietic porphyria with erythrodontia: A case report

Feb 2, 2019·International Journal of Paediatric Dentistry·Volkan CiftciMuharrem Cem Dogan

Porphyrias and photosensitivity: pathophysiology for the clinician

Oct 10, 2018·Postgraduate Medicine·Loukas KakoullisGeorge Panos

Feline congenital erythropoietic porphyria: two homozygous UROS missense mutations cause the enzyme deficiency and porphyrin accumulation

May 21, 2010·Molecular Medicine·Sonia ClaveroRobert J Desnick

Mutational analysis of uroporphyrinogen III cosynthase gene in Iranian families with congenital erythropoietic porphyria

Feb 22, 2012·Molecular Biology Reports·Meysam MoghbeliMohammad Reza Abbaszadegan

Neurological and neuropsychiatric manifestations of porphyria

Aug 14, 2019·The International Journal of Neuroscience·Yiji SuhSardar Ali Khan

Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias

Jul 2, 2015·Current Protocols in Human Genetics·Vaithamanithi-Mudumbai Sadagopa Ramanujam, Karl Elmo Anderson

Neonatal hemolytic anemia does not always indicate thalassemia: a case report

Sep 14, 2017·BMC Research Notes·Arwa A Al-HaraziButheinah A Al-Sharafi

Role of genetic testing in the management of patients with inherited porphyria and their families

Apr 23, 2013·Annals of Clinical Biochemistry·S D Whatley, M N Badminton

Ocular manifestations in patient with congenital erythropoietic porphyria

Sep 25, 2019·Indian Journal of Ophthalmology·C Isanta-OtalL E Pablo

Congenital erythropoietic porphyria (Gunther disease): a case report

Jul 31, 2020·Oxford Medical Case Reports·Ali KahilaAyham Badran

Uroporphyrinogen III synthase mutations related to congenital erythropoietic porphyria identify a key helix for protein stability

Dec 23, 2008·Biochemistry·Arola FortianOscar Millet

Related Concepts

Heme

Uroporphyrinogen III Synthetase

Genetic Therapy, Somatic

Bone Marrow Cell Transplantation

Deficiency of Uroporphyrinogen III Synthase

Mice, Knockout

Hemopoietic Stem Cell Transplant

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