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Search for publications relevant for "porphyria"
porphyria
Publication
Class
Person
Publication
Programmes
publication
Porphyria cutanea tarda with sclerodermiform changes
1998 |
Faculty of Medicine in Pilsen
publication
Unrecognized hypertrichosis
2011 |
Second Faculty of Medicine
publication
Needle-shaped Liver Cell Inclusions Represent a Specific Diagnostic Feature of Porphyria Cutanea Tarda
1998 |
Faculty of Medicine in Pilsen, Third Faculty of Medicine
publication
Laboratory aspects of porphyria diagnostics
2008 |
First Faculty of Medicine
publication
International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias
2019 |
First Faculty of Medicine
publication
Gene symbol: HMBS. Disease: Porphyria, acute intermittent
2008 |
First Faculty of Medicine
publication
De Novo Mutation Found in the Porphobilinogen Deaminase Gene in Slovak Acute Intermittent Porphyria Patient: Molecular Biochemical Study
2006 |
First Faculty of Medicine
publication
Klinický případ: Puchýře a eroze na rukou
2016 |
First Faculty of Medicine
publication
Porphyrias
+1
2010 |
First Faculty of Medicine
publication
The porphyrias: An overview
2001 |
First Faculty of Medicine
publication
Porphyria in childhood
Publication without faculty affiliation
publication
Hepatoerythropoietic Porphyria Caused by a Novel Homoallelic Mutation in Uroporphyrinogen Decarboxylase Gene in Egyptian Patients
2015 |
First Faculty of Medicine
publication
Congenital erythropoetic porphyria
Publication without faculty affiliation
publication
Acute intermittent porphyria - impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties
2009 |
First Faculty of Medicine
publication
Hepatic porphyrias: An overview
2001 |
First Faculty of Medicine
publication
Characterization of two missense variants in the hydroxymethylbilane synthase gene in the Israeli population, which differ in their associations with acute intermittent porphyria
2008 |
First Faculty of Medicine
publication
European porphyria initiative (EPI)
Publication without faculty affiliation
publication
Netypické ložiskové postižení jater u porphyria cutanea tarda
Publication without faculty affiliation
publication
High prevalence of HFE gene mutations in patients with porphyria cutanea tarda in the Czech Republic
2008 |
Third Faculty of Medicine
publication
European Porphyria Initiative (EPI): A Platform to Develop a Common Approach to the Management of Porphyrias and to Promote Research in Field
2006 |
First Faculty of Medicine
publication
European Porphyria Initiative (EPI): A Platform to Develop a Common Approach to the Management of Porphyrias and to Promote Research in Field
2006 |
Faculty of Physical Education and Sport
publication
May 2006 Update in Porphobilinogen Deaminase Gene Polymorphisms and Mutations Causing Acute Intermittent Porphyria. Comparison with the Situation in Slavic Population
2006 |
First Faculty of Medicine
publication
Homozygous form of porphyria variegata in childhood
Publication without faculty affiliation
publication
Congenital erythropoietic porphyria (Gunther disease)
2001 |
Faculty of Physical Education and Sport
publication
Porphyria with clinic manifestation in child age.
2000 |
Faculty of Physical Education and Sport
publication
Porphyria variegata
2003 |
First Faculty of Medicine
publication
EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks
2020 |
First Faculty of Medicine
publication
Mutation analysis in Czech patients with porphyria variegata
Publication without faculty affiliation
publication
Chronic liver porphyria
2003 |
First Faculty of Medicine