1 |
The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH.
6
25
|
Gouya L...Deybach JC
|
11753383 |
2002 |
2 |
Clinical, biochemical, and genetic study of 11 patients with erythropoietic protoporphyria including one with homozygous disease.
6
|
Herrero C...Lecha M
|
17875872 |
2007 |
3 |
Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria.
6
|
Gouya L...Deybach JC
|
16385445 |
2006 |
4 |
Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias.
6
|
Gouya L...Deybach JC
|
14669009 |
2004 |
5 |
Mutations in the iron-sulfur cluster ligands of the human ferrochelatase lead to erythropoietic protoporphyria.
6
|
Schneider-Yin X...Ferreira GC
|
10942404 |
2000 |
6 |
Molecular defects in ferrochelatase in patients with protoporphyria requiring liver transplantation.
6
|
Bloomer J...Brenner D
|
9649563 |
1998 |
7 |
Recessive inheritance of erythropoietic protoporphyria with liver failure.
6
|
Sarkany RP...Cox TM
|
7910885 |
1994 |
8 |
Molecular defect in human erythropoietic protoporphyria with fatal liver failure.
6
|
Nakahashi Y...Taketani S
|
8500787 |
1993 |
9 |
A novel mutation in erythropoietic protoporphyria: an aberrant ferrochelatase mRNA caused by exon skipping during RNA splicing.
6
|
Wang X...Piomelli S
|
8481408 |
1993 |
10 |
A molecular defect in human protoporphyria.
6
|
Brenner DA...Dailey HA
|
1376018 |
1992 |
11 |
The molecular defect of ferrochelatase in a patient with erythropoietic protoporphyria.
6
|
Nakahashi Y...Sassa S
|
1729699 |
1992 |
12 |
Human erythropoietic protoporphyria: two point mutations in the ferrochelatase gene.
6
|
Lamoril J...Deybach JC
|
1755842 |
1991 |
13 |
The effect of liver transplantation in a 13-year-old boy with erythropoietic protoporphyria.
6
|
Polson RJ...Williams R
|
3047929 |
1988 |
14 |
Fatal liver failure in protoporphyria. Synergism between ethanol excess and the genetic defect.
6
|
Bonkovsky HL...Schned AR
|
3940245 |
1986 |
15 |
Patients with erythropoietic protoporphyria have reduced erythrocyte protoporphyrin IX from early in pregnancy.
25
|
Heerfordt IM...Wulf HC
|
27943252 |
2017 |
16 |
Clinical, Biochemical, and Genetic Characterization of North American Patients With Erythropoietic Protoporphyria and X-linked Protoporphyria.
25
|
Balwani M...Desnick RJ
|
28614581 |
2017 |
17 |
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.
25
|
Stenson PD...Cooper DN
|
28349240 |
2017 |
18 |
X-chromosomal inactivation directly influences the phenotypic manifestation of X-linked protoporphyria.
25
|
Brancaleoni V...Di Pierro E
|
25615817 |
2016 |
19 |
Afamelanotide for Erythropoietic Protoporphyria.
25
|
Langendonk JG...Desnick RJ
|
26132941 |
2015 |
20 |
Long-term observational study of afamelanotide in 115 patients with erythropoietic protoporphyria.
25
|
Biolcati G...Minder EI
|
25494545 |
2015 |
21 |
Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria.
25
|
Balwani M...Porphyrias Consortium of the National Institutes of Health Rare Diseases Clinical Research Network
|
23364466 |
2013 |
22 |
Liver transplantation for erythropoietic protoporphyria in Europe.
25
|
Wahlin S...European Liver and Intestine Transplant Association
|
21604355 |
2011 |
23 |
Erythropoietic protoporphyria in Sweden: demographic, clinical, biochemical and genetic characteristics.
25
|
Wahlin S...Harper P
|
20412370 |
2011 |
24 |
Afamelanotide, an agonistic analog of α-melanocyte-stimulating hormone, in dermal phototoxicity of erythropoietic protoporphyria.
25
|
Minder EI
|
21073357 |
2010 |
25 |
Vitamin D deficiency in patients with erythropoietic protoporphyria.
25
|
Spelt JM...Zandbergen AA
|
24137761 |
2010 |
26 |
A homoallelic FECH mutation in a patient with both erythropoietic protoporphyria and palmar keratoderma.
25
|
Minder EI...Schoenfeld N
|
20337824 |
2010 |
27 |
Acquired erythropoietic protoporphyria.
25
|
Blagojevic D...Trautinger F
|
19902211 |
2010 |
28 |
Molecular epidemiology of erythropoietic protoporphyria in the U.K.
25
|
Whatley SD...Badminton MN
|
20105171 |
2010 |
29 |
Mitigating photosensitivity of erythropoietic protoporphyria patients by an agonistic analog of alpha-melanocyte stimulating hormone.
25
|
Harms JH...Minder EI
|
19656325 |
2009 |
30 |
A homozygous mutation in the ferrochelatase gene underlies erythropoietic protoporphyria associated with palmar keratoderma.
25
|
Mendez M...de Salamanca RE
|
19298273 |
2009 |
31 |
Seasonal palmar keratoderma in erythropoietic protoporphyria indicates autosomal recessive inheritance.
25
|
Holme SA...Badminton MN
|
18787536 |
2009 |
32 |
A systematic review of treatment options for dermal photosensitivity in erythropoietic protoporphyria.
25
|
Minder EI...Bachmann LM
|
19268006 |
2009 |
33 |
C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload.
25
|
Whatley SD...Puy H
|
18760763 |
2008 |
34 |
Protection from phototoxic injury during surgery and endoscopy in erythropoietic protoporphyria.
25
|
Wahlin S...Brun A
|
18756472 |
2008 |
35 |
Serum 25-hydroxyvitamin D in erythropoietic protoporphyria.
25
|
Holme SA...Elder GH
|
18476956 |
2008 |
36 |
Gene dosage analysis identifies large deletions of the FECH gene in 10% of families with erythropoietic protoporphyria.
25
|
Whatley SD...Badminton MN
|
17597821 |
2007 |
37 |
Symptomatic response of erythropoietic protoporphyria to iron supplementation.
25
|
Holme SA...Badminton MN
|
17504727 |
2007 |
38 |
Increased plasma transferrin, altered body iron distribution, and microcytic hypochromic anemia in ferrochelatase-deficient mice.
25
|
Lyoumi S...Puy H
|
17003376 |
2007 |
39 |
Sequential liver and bone marrow transplantation for treatment of erythropoietic protoporphyria.
25
|
Rand EB...Bloomer JR
|
17074841 |
2006 |
40 |
Erythropoietic protoporphyria in the U.K.: clinical features and effect on quality of life.
25
|
Holme SA...Badminton MN
|
16911284 |
2006 |
41 |
Acquired erythropoietic protoporphyria as a result of myelodysplasia causing loss of chromosome 18.
25
|
Sarkany RP...Willis F
|
16882191 |
2006 |
42 |
Liver transplantation for erythropoietic protoporphyria liver disease.
25
|
McGuire BM...Bloomer JR
|
16315313 |
2005 |
43 |
Benefits of chronic plasmapheresis and intravenous heme-albumin in erythropoietic protoporphyria after orthotopic liver transplantation.
25
|
Do KD...Bonkovsky HL
|
11884947 |
2002 |
44 |
A genotype-phenotype correlation between null-allele mutations in the ferrochelatase gene and liver complication in patients with erythropoietic protoporphyria.
25
|
Minder EI...Deybach JC
|
11929053 |
2002 |
45 |
Late-onset erythropoietic porphyria caused by a chromosome 18q deletion in erythroid cells.
25
|
Aplin C...Elder GH
|
11886534 |
2001 |
46 |
New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care.
25
|
Schneider-Yin X...Minder EI
|
11039124 |
2000 |
47 |
Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation.
25
|
Gouya L...Deybach JC
|
10068685 |
1999 |
48 |
Human protoporphyria: reduced cutaneous photosensitivity and lower erythrocyte porphyrin levels during pregnancy.
25
|
Poh-Fitzpatrick MB
|
8996259 |
1997 |
49 |
The liver in protoporphyria.
25
|
Bloomer JR
|
3281889 |
1988 |
50 |
Fecal protoporphyrin excretion in erythropoietic protoporphyria: effect of cholestyramine and bile acid feeding.
25
|
McCullough AJ...Bickers DR
|
3335288 |
1988 |