Is hepatoerythropoietic porphyria a homozygous form of porphyria cutanea tarda Inheritance of uroporphyrinogen decarboxylase deficiency in a Spanish family

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Duration: 3 min 30 s
Description: A patient with hepatoerythropoietic porphyria (HEP) is described. He was shown by a family study to be homozygous for a gene that causes greater than 95% suppression of erythrocyte uroporphyrinogen decarboxylase activity.
Priscila C. F. Lazaro; RAFAEL E DE SALAMANCA; George H. Elder; M.L. VILLASECA; Sagrario Chinarro; G Jaqueti
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F. Lazaro', 'orcid': None}, 'institutions': [], 'countries': ['ES'], 'is_corresponding': False, 'raw_author_name': 'P. LAZARO', 'raw_affiliation_strings': ['Department of Dermatology, Hospital Provincial, Madrid, Spain'], 'affiliations': [{'raw_affiliation_string': 'Department of Dermatology, Hospital Provincial, Madrid, Spain', 'institution_ids': []}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5110156140', 'display_name': 'RAFAEL E DE SALAMANCA', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I2961216182', 'display_name': 'Hospital Clínico San Carlos', 'ror': 'https://ror.org/04d0ybj29', 'country_code': 'ES', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2961216182', 'https://openalex.org/I4210139293']}], 'countries': ['ES'], 'is_corresponding': False, 'raw_author_name': 'R.E. SALAMANCA', 'raw_affiliation_strings': ['Department of Internal Medicine, Porphyria Research Unit, Hospital Clinico de San Carlos, Madrid, Spain'], 'affiliations': [{'raw_affiliation_string': 'Department of Internal Medicine, Porphyria Research Unit, Hospital Clinico de San Carlos, Madrid, Spain', 'institution_ids': ['https://openalex.org/I2961216182']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5066619588', 'display_name': 'George H. Elder', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I2802160682', 'display_name': 'Welsh Government', 'ror': 'https://ror.org/000wh6t45', 'country_code': 'GB', 'type': 'government', 'lineage': ['https://openalex.org/I2802160682']}], 'countries': ['GB'], 'is_corresponding': False, 'raw_author_name': 'G.H. ELDER', 'raw_affiliation_strings': ['Department of Medical Biochemistry, Welsh National School of Medicine, Cardiff, Wales'], 'affiliations': [{'raw_affiliation_string': 'Department of Medical Biochemistry, Welsh National School of Medicine, Cardiff, Wales', 'institution_ids': ['https://openalex.org/I2802160682']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5059676025', 'display_name': 'M.L. VILLASECA', 'orcid': None}, 'institutions': [], 'countries': ['ES'], 'is_corresponding': False, 'raw_author_name': 'M.L. VILLASECA', 'raw_affiliation_strings': ['Department of Dermatology, Hospital Provincial, Madrid, Spain'], 'affiliations': [{'raw_affiliation_string': 'Department of Dermatology, Hospital Provincial, Madrid, Spain', 'institution_ids': []}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5012879089', 'display_name': 'Sagrario Chinarro', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I2961216182', 'display_name': 'Hospital Clínico San Carlos', 'ror': 'https://ror.org/04d0ybj29', 'country_code': 'ES', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2961216182', 'https://openalex.org/I4210139293']}], 'countries': ['ES'], 'is_corresponding': False, 'raw_author_name': 'S. CHINARRO', 'raw_affiliation_strings': ['Department of Internal Medicine, Porphyria Research Unit, Hospital Clinico de San Carlos, Madrid, Spain'], 'affiliations': [{'raw_affiliation_string': 'Department of Internal Medicine, Porphyria Research Unit, Hospital Clinico de San Carlos, Madrid, Spain', 'institution_ids': ['https://openalex.org/I2961216182']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5022916223', 'display_name': 'G Jaqueti', 'orcid': None}, 'institutions': [], 'countries': ['ES'], 'is_corresponding': False, 'raw_author_name': 'G. 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