Results 81 to 90 of about 8,404 (212)
Atypical Guillain‐Barré Syndrome Preceding Icteric Hepatitis A: A Diagnostic Challenge—A Case Report
Clinical Case Reports, Volume 14, Issue 4, April 2026.ABSTRACT Guillain–Barré syndrome (GBS) is an acute immune‐mediated neuropathy typically triggered by infections. Rarely, it may precede acute hepatitis A (HAV), creating diagnostic challenges. We report a 32‐year‐old male presenting with ascending weakness and tingling in limbs without initial hepatic symptoms.
Asem Afana +4 more
wiley +1 more source
Caring for patients with acute intermittent porphyria.
, 1994 The porphyrias are a group of metabolic disorders of heme biosynthesis genetically determined defects. Acute intermittent porphyria is the most common form of porphyria found in the United States.
Spositio, D.L. +4 more
core +1 more source
Nutritional Regulation of Hepatic Heme Biosynthesis and Porphyria through PGC-1α [PDF]
, 2005 Inducible hepatic porphyrias are inherited genetic disorders of enzymes of heme biosynthesis. The main clinical manifestations are acute attacks of neuropsychiatric symptoms frequently precipitated by drugs, hormones, or fasting, associated with ...
Lin, J. +17 more
core +1 more source
Acute intermittent porphyria case in clinical practice internist
Journal of Education, Health and Sport, 2019 Porphyria is group of eight metabolic disorders characterized by defects in hemebiosynthesis. The presentation of porphyria is highly variable, and the symptoms are non specific, which accounts in part for delay sinestablishing a diagnosis.
V. V. Chopyak, Y. F. Tolstyak
doaj +3 more sources
Porphyria: What Is It and Who Should Be Evaluated?
Rambam Maimonides Medical Journal, 2018 The porphyrias are a group of rare metabolic disorders, inherited or acquired, along the heme biosynthetic pathway, which could manifest with neurovisceral and/or cutaneous symptoms, depending on the defective enzyme.
Yonatan Edel, Rivka Mamet
doaj +1 more source
Expression, purification and characterisation of protoporphyrinogen oxidases from diverse species
, 2000 Bibliography: leaves 163-203.This work involved the characterisation of protoporphyrinogen oxidase (PPO), the penultimate enzyme in haem biosynthesis, from Bacillus subtilis, Myxococcus xanthus, and human. A defect in human PPO causes variegate porphyria,
Siziba, Kwanele Bennett
core
Nihon Naika Gakkai Zasshi, 1962 典型的な急性ポルフィリン症を経験し,かつ剖検する機会を得た.症例は32才の男.腹痛,高血圧,精神症状,四肢運動麻痺,横隔膜麻痺を主要症状とし,ついに呼吸麻痺のため死亡した.尿は入院期間中,終始,赤褐色ないしブドウ酒色を呈し,ポルフォビリノーゲン強陽性,コプロポルフィリン陽性,ウロポルフィリン弱陽性であつた.剖検により横隔膜神経は左右とも内鞘は浮腫状を呈し,髄鞘は顆粒状変性,崩壊,脱髄などの所見を認め,軸素にも部位的に腫張,顆粒状変性,断裂などを認めた.このことは本症の横隔膜麻痺を裏づける意味あるものと考える.
AWAYA, Hironobu +2 more
openaire +3 more sources
Feasibility of cellular bioenergetics as a biomarker in porphyria patients
Molecular Genetics and Metabolism Reports, 2019 Porphyria is a group of metabolic disorders due to altered enzyme activities within the heme biosynthetic pathway. It is a systemic disease with multiple potential contributions to mitochondrial dysfunction and oxidative stress.
Balu Chacko +6 more
doaj +1 more source
Acute porphyrias and porphyric neuropathy
Southwest Respiratory and Critical Care Chronicles, 2016 The porphyrias are a group of uncommon inherited metabolic disorders of heme biosynthesis. Acute porphyrias are specific types of porphyrias characterized by the presence of acute attacks that usually present with abdominal pain, psychiatric symptoms ...
Doungporn Ruthirago +2 more
doaj
Orphanet Journal of Rare DiseasesBackground Acute hepatic porphyria is a group of multisystem disorders of which acute intermittent porphyria is the most common subtype. Givosiran, a subcutaneously administered RNA interference therapeutic targeting liver ALAS mRNA, is approved for ...
Eliane Sardh +6 more
doaj +1 more source