Results 81 to 90 of about 1,465,884 (208)

Pretransplant Evaluation of a Patient with Acute Intermittent Porphyria

, 2001
The pretransplant evaluation of a patient with a rare diagnosis requires knowledge of the pathophysiology and the transplant literature. A 55-year-old man presented with hypertensive kidney failure and the clinical diagnosis of acute intermittent ...
Karl E. Anderson, Bill J. Gurley, Sameh R. Abul-Ezz, Susan Turton-Weeks, Meredith L. Lightfoot, Gary W. Barone, Beverley L. Ketel   +6 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., Handschin, Christoph, Rhee, James, Peyer, Anne-Kathrin, Meyer, Urs A, Spiegelman, Bruce M., Handschin, C., Spiegelman, Bruce M, Meyer, U. A., Lin, Jiandie, Rhee, J., Wu, P. -H., Peyer, A. -K., Chin, Sherry, Meyer, Urs A., Spiegelman, B. M., Chin, S., Wu, Pei-Hsuan   +17 more
core   +1 more source

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

Treatment options in acute porphyria, porphyria cutanea tarda, and erythropoietic protoporphyria

, 2007
The porphyrias are a group of uncommon metabolic diseases caused by enzyme deficiencies within heme biosynthesis that lead to neurotoxic or phototoxic heme precursor accumulation. There are four acute porphyrias characterized by neuropsychiatric symptoms:
Harper, P,, Wahlin, S,
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

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., Briones, J.P., Clochesy, J.M., Kloos, J.A., Shively, B.D.   +4 more
core   +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, Parunyou Julayanont, Supannee Rassameehiran   +2 more
doaj  

The Management of Motor Neuropathy With Plasmapheresis in a Patient With Acute Porphyria: A Case Report. [PDF]

Cureus, 2023
Maqbool U, Khan MA, Maqbool A, Aslam W, Naseem MA.   +4 more
europepmc   +1 more source

Long-term follow-up of givosiran treatment in patients with acute intermittent porphyria from a phase 1/2, 48-month open-label extension study

Orphanet Journal of Rare Diseases
Background 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, Manisha Balwani, David C. Rees, Karl E. Anderson, Gang Jia, Marianne T. Sweetser, Bruce Wang   +6 more
doaj   +1 more source

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, Matilda Lillian Culp, Joseph Bloomer, John Phillips, Yong-Fang Kuo, Victor Darley-Usmar, Ashwani K. Singal   +6 more
doaj   +1 more source