Porphyrias
H Puy, L Gouya, JC Deybach - The Lancet, 2010 - thelancet.com
Hereditary porphyrias are a group of eight metabolic disorders of the haem biosynthesis
pathway that are characterised by acute neurovisceral symptoms, skin lesions, or both …
pathway that are characterised by acute neurovisceral symptoms, skin lesions, or both …
Laboratory diagnosis of porphyria
E Di Pierro, M De Canio, R Mercadante, M Savino… - Diagnostics, 2021 - mdpi.com
Porphyrias are a group of diseases that are clinically and genetically heterogeneous and
originate mostly from inherited dysfunctions of specific enzymes involved in heme …
originate mostly from inherited dysfunctions of specific enzymes involved in heme …
[图书][B] Hepatology Principles and Practice: History· Morphology Biochemistry· Diagnostics Clinic· Therapy
E Kuntz - 2006 - Springer
Metabolic processes utilize a variety of differing and contrasting biochemical routes to
enable synthesis of degradation and activation or deactivation of substances; in addition …
enable synthesis of degradation and activation or deactivation of substances; in addition …
Human hereditary hepatic porphyrias
Y Nordmann, H Puy - Clinica chimica acta, 2002 - Elsevier
The human hereditary hepatic porphyrias are diseases due to marked deficiencies of
enzymes in the heme biosynthetic pathway. Porphyrias can be classified as either hepatic or …
enzymes in the heme biosynthetic pathway. Porphyrias can be classified as either hepatic or …
Metabolic and nutritional disorders
RPE Sarkany, SM Breathnach… - Rook's textbook of …, 2010 - Wiley Online Library
Skin changes related to malabsorption, deficiency of the vitamins A, B, C and D are
described. Deficiency of vitamin C (scurvy) and of niacin (pellagra) are described in detail …
described. Deficiency of vitamin C (scurvy) and of niacin (pellagra) are described in detail …
Variegate porphyria in Western Europe: identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between …
SD Whatley, H Puy, RR Morgan, AM Robreau… - The American Journal of …, 1999 - cell.com
Variegate porphyria (VP) is a low-penetrance, autosomal dominant disorder characterized
clinically by skin lesions and acute neurovisceral attacks that occur separately or together. It …
clinically by skin lesions and acute neurovisceral attacks that occur separately or together. It …
Cutaneous porphyrias part I: epidemiology, pathogenesis, presentation, diagnosis, and histopathology
ME Horner, A Alikhan, S Tintle… - International journal …, 2013 - Wiley Online Library
The porphyrias are a group of disorders characterized by defects in the heme biosynthesis
pathway. Many present with skin findings including photosensitivity, bullae, hypertrichosis …
pathway. Many present with skin findings including photosensitivity, bullae, hypertrichosis …
mRNA-based therapy in a rabbit model of variegate porphyria offers new insights into the pathogenesis of acute attacks
D Jericó, KM Córdoba, L Jiang, C Schmitt… - … Therapy-Nucleic Acids, 2021 - cell.com
Variegate porphyria (VP) results from haploinsufficiency of protoporphyrinogen oxidase
(PPOX), the seventh enzyme in the heme synthesis pathway. There is no VP model that …
(PPOX), the seventh enzyme in the heme synthesis pathway. There is no VP model that …
Plasma fluorescence scanning and fecal porphyrin analysis for the diagnosis of variegate porphyria: precise determination of sensitivity and specificity with detection …
RJ Hift, BP Davidson, C van der Hooft… - Clinical …, 2004 - academic.oup.com
Background: Variegate porphyria (VP) is the autosomal dominant disorder associated with
deficiency of the enzyme protoporphyrinogen oxidase (PPOX). Plasma fluorescence …
deficiency of the enzyme protoporphyrinogen oxidase (PPOX). Plasma fluorescence …
1O2-activatable Eu3+-afterglow nanoprobe for highly sensitive detection of porphyria in whole blood
J Liu, J Yin, H Yuan, Y Zhao, S Luo, F Li - Journal of Rare Earths, 2022 - Elsevier
High-sensitivity detection of porphyrin in blood is very important for the early diagnosis and
treatment of porphyria. Based on the advantages of longer luminescence lifetime and lower …
treatment of porphyria. Based on the advantages of longer luminescence lifetime and lower …