Results 31 to 40 of about 17,878 (259)
Erythrocytes as Carriers of Therapeutic Enzymes. [PDF]
, 2020 Therapeutic enzymes are administered for the treatment of a wide variety of diseases. They exert their effects through binding with a high affinity and specificity to disease-causing substrates to catalyze their conversion to a non-noxious product, to ...
Bax, BE
core +1 more source
Clinical Guide and Update on Porphyrias.
Gastroenterology, 2019 Physicians should be aware of porphyrias, which could be responsible for unexplained gastrointestinal, neurologic, or skin disorders. Despite their relative rarity and complexity, most porphyrias can be easily defined and diagnosed.
U. Stölzel, M. Doss, D. Schuppan
semanticscholar +1 more source
Evaluating quality of life tools in North American patients with erythropoietic protoporphyria and X-linked protoporphyria. [PDF]
, 2019 BackgroundErythropoietic protoporphyria (EPP) and X-linked Protoporphyria (XLP) are rare photodermatoses presenting with severe phototoxicity. Although anecdotally, providers who treat EPP patients acknowledge their life-altering effects, tools that ...
Anderson, Karl E +10 more
core +1 more source
Heme biosynthesis and the porphyrias.
Molecular Genetics and Metabolism, 2019 Porphyrias, is a general term for a group of metabolic diseases that are genetic in nature. In each specific porphyria the activity of specific enzymes in the heme biosynthetic pathway is defective and leads to accumulation of pathway intermediates ...
J. Phillips
semanticscholar +1 more source
Urinary porphyrin excretion in hepatitis C infection [PDF]
, 1999 A high prevalence of hepatitis C virus infection in porphyria cutanea tarda in some populations suggests a close link between viral hepatitis and alteration of porphyrin metabolism.
Jacob, Karl +2 more
core +1 more source
Revista Brasileira de Reumatologia, 2012 A associação de porfiria cutânea tarda (PCT) e lúpus eritematoso sistêmico (LES) é rara. O LES, de fisiopatologia complexa e manifestações clínicas pleomórficas, assemelha-se à PCT pela fotossensibilidade.
Scheila Fritsch +5 more
doaj +1 more source
High penetrance, recurrent attacks and thrombus formation in a family with hereditary coproporphyria
JIMD Reports, 2022 Hereditary coproporphyria (HCP) is the rarest of the autosomal dominant acute porphyrias with an estimated incidence of 0.02 per 10 million per year.
Cindy Towns +4 more
doaj +1 more source
Development and validation of a method for porphyrins quantification using HPLC-UV in urine
Фармакокинетика и Фармакодинамика, 2022 Porphyrias are the group of orphan diseases, related to pathological disruptions of heme biosynthesis. These diseases are hard to diagnose timely and existing methods lack universality.
D. A. Kildyushkin +2 more
doaj +1 more source
Spot urine porphyrins/creatinine ratio profile of healthy Brazilian individuals adjusted for personal habits [PDF]
, 2009 Changes in urinary porphyrin excretion may be the result of hereditary causes and/or from environmental or occupational exposure. The objective of this study was to measure the amount of some porphyrins in spot urine samples obtained from volunteers ...
ALVES, A.N.L. +3 more
core +2 more sources
Evaluation of a commercially available rapid urinary porphobilinogen test [PDF]
, 2011 Background: Demonstration of substantially increased urinary excretion of porphobilinogen is the cornerstone of diagnosing acute porphyria crisis. Because porphobilinogen testing is not implemented on clinical chemistry analysers, respective analyses are
Buttery JE +4 more
core +1 more source