Associated Papers
Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.
Kaschta D et al.
Genome Medicine, 2025
Estimating carrier rates and prevalence of porphyria-associated gene variants in the Chinese population based on genetic databases.
Wang Y et al.
Orphanet Journal of Rare Diseases, 2024
Insight into the Role of an α-Helix Cluster in Protoporphyrinogen IX Oxidase.
Wang B et al.
Biochemistry, 2024
Acute porphyrias - A neurological perspective.
Gerischer LM et al.
Brain and Behavior, 2021
Molecular analysis of 19 Spanish patients with mixed porphyrias.
Borrero Corte MJ et al.
European Journal of Medical Genetics, 2019
Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes.
Yasuda M et al.
Molecular Genetics and Metabolism, 2019
An Unusual Cause of Headache and Fatigue in a Division 1 Collegiate Athlete.
Makki AY et al.
Clinical Journal of Sport Medicine : Official Journal of the Canadian Academy of Sport Medicine, 2017
Quantitative structural insight into human variegate porphyria disease.
Wang B et al.
The Journal of Biological Chemistry, 2013
Structural insight into human variegate porphyria disease.
Qin X et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2011
A recurrent mutation in variegate porphyria patients from Chile and Sweden: Evidence for a common genetic background?
van Serooskerken AM et al.
Journal of Dermatological Science, 2011
Variegate porphyria in a 46-year-old patient taking sibutramine for weight loss.
Reiser M et al.
Obesity Reviews : an Official Journal of the International Association for the Study of Obesity, 2010
Genetic and biochemical studies in Argentinean patients with variegate porphyria.
Rossetti MV et al.
Bmc Medical Genetics, 2008
Kinetic and physical characterisation of recombinant wild-type and mutant human protoporphyrinogen oxidases.
Maneli MH et al.
Biochimica Et Biophysica Acta, 2003
Functional studies of mutations in the human protoporphyrinogen oxidase gene in variegate porphyria.
Morgan RR et al.
Cellular and Molecular Biology (noisy-le-grand, France), 2002
A spectrum of novel mutations in the protoporphyrinogen oxidase gene in 13 families with variegate porphyria.
Frank J et al.
The Journal of Investigative Dermatology, 2001
Identification of a founder mutation in the protoporphyrinogen oxidase gene in variegate porphyria patients from chile.
Frank J et al.
Human Heredity, 2001
A novel mutation (1320InsT) identified in two Argentine families with variegate porphyria.
Siervi AD et al.
Human Mutation, 2000
Variegate porphyria in Western Europe: identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation.
Whatley SD et al.
American Journal of Human Genetics, 1999
Recurrent missense mutation in the protoporphyrinogen oxidase gene underlies variegate porphyria.
Frank J et al.
American Journal of Medical Genetics, 1998
Variegate porphyria: past, present and future.
Frank J et al.
Skin Pharmacology and Applied Skin Physiology, 0
[Identification of mutations in the protoporphyrin oxidase gene and its diagnostic implications in porphyria variegata in Chile].
Wolff C et al.
Revista De Investigacion Clinica; Organo Del Hospital De Enfermedades De La Nutricion, 0