Results 61 to 70 of about 7,124 (172)
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
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
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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
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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
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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
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The Management of Motor Neuropathy With Plasmapheresis in a Patient With Acute Porphyria: A Case Report. [PDF]
Cureus, 2023 Maqbool U +4 more
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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
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Clinical Challenges of Acute Porphyria in the Young Adult. [PDF]
Neurohospitalist, 2022 Burns S +6 more
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Radiopharmaceuticals in Acute Porphyria
Clinical Therapeutics, 2016 The acute porphyrias are a group of rare metabolic disorders of the heme biosynthetic pathway. Carriers of the acute porphyria gene are prone to potentially fatal acute attacks, which can be precipitated by drug exposure. It is therefore important to know whether a drug is safe for carriers of the acute porphyria gene.
Schreuder, Nanno +2 more
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Case Reports in TransplantationAcute intermittent porphyria is a rare inborn disease of porphyrin metabolism which can cause severe abdominal pain attacks and neurological symptoms. Here, we report a patient with a 20-year history of severe chronic manifestations of acute intermittent
Petro E. Petrides +5 more
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