Results 121 to 130 of about 36,453 (301)

Desensitization in patients with hypersensitivity to haem arginate: A case report

World Allergy Organization Journal, 2019
Background: Porphyria comprises a group of metabolic disorders caused by the irregular activities of enzymes within the haem biosynthetic pathway. This disease can provoke a large variety of symptoms.
Edgardo Chapman, Drixie Leal, Eugenio Matijasevic, Elizabeth García   +3 more
doaj   +1 more source

Inappropriate Antidiuresis: Examples of an Hyponatremic Syndrome Resembling Exogenous Vasopressin Administration in Man [PDF]

, 1966
We have reviewed some of the features of hyponatremic syndromes, unassociated with sodium retention and edema, but associated with primary water retention.
Bower, John D., Kirkland, Richard H., Klingler, Eugene L., Lancestremere, Ruben G., Magee, Joseph H.   +4 more
core   +1 more source

Acute Intermittent Porphyria: A Report of 3 Cases with Neuropathy

Case Reports in Neurology, 2019
The porphyrias are metabolic disorders due to a defect in the heme biosynthetic pathway. Patients have diverse clinical presentations with neuropathy being frequent in acute intermittent porphyria (AIP).
M. Alqwaifly, V. Bril, D. Dodig
semanticscholar   +1 more source

A Prospective, Blinded Study of Symptom Prevalence and Specificity of Porphyrin Precursors in Carriers of Acute Hepatic Porphyria

Liver International, Volume 45, Issue 7, July 2025.
ABSTRACT Background and Aims This study aimed to characterise symptoms and assess the prevalence of elevated urine porphyrin precursors in first‐degree relatives of acute hepatic porphyria (AHP) patients who have never experienced acute attacks and had no previous AHP genetic or biochemical testing.
Mohsen Merati, Nanditha Jayakumar, Yuvraaj Kapoor, Hetanshi Naik, Manisha Balwani, Karl E. Anderson, Herbert L. Bonkovsky, Robert J. Desnick, Brendan McGuire, John Phillips, D. Montgomery Bissell, Bruce Wang   +11 more
wiley   +1 more source

Homotransplantation of the liver in a patientwith hepatoma and hereditary tyrosinemia [PDF]

, 1978
A girl with hereditary tyrosinemia, diagnosed at 6 months of age, was treated with a diet restricted inphenylalanine and tyrosine. At 91/2 years of age she developed an acutely enlarged liver and spleen, and the diagnosis of hepatocarcinoma was made. The
Arnold Silverman, Bolstein, Bélanger, Carver, Chakrabarti, Daloze, Doris Doeden, Edward R.B. McCabe, Fish, Gentz, Gentz, Halsted, Halvorsen, Hardwick, Jerry G. Kohlhoff, Jones, Kang, Kasai, Lawrence J. Koep, Lindblad, Lindemann, MacSween, McCaman, Phillips, Piomelli, Robert O. Fisch, Sandell, Scriver, Starzl, Strife, Thomas E. Starzl, Tomokuni, Weinberg, Williams, Williams   +34 more
core   +1 more source

Patient Perspective on Acute Intermittent Porphyria with Frequent Attacks: A Disease with Intermittent and Chronic Manifestations

Patient, 2018
ObjectiveAcute intermittent porphyria is a rare metabolic disorder that affects heme synthesis. Patients with acute intermittent porphyria may experience acute debilitating neurovisceral attacks that require frequent hospitalizations and negatively ...
A. Simon, F. Pompilus, W. Querbes, Alex Wei, S. Strzok, C. Penz, Desiree Lyon Howe, Jessica R. Hungate, Jae B. Kim, S. Agarwal, P. Marquis   +10 more
semanticscholar   +1 more source

Transient and intensive pharmacological immunosuppression fails to improve AAV-based liver gene transfer in non-human primates [PDF]

, 2012
BACKGROUND: Adeno-associated vectors (rAAV) have been used to attain long-term liver gene expression. In humans, the cellular immune response poses a serious obstacle for transgene persistence while neutralizing humoral immunity curtails re ...
Alfaro, C. (Carlos), Beattie, S.G. (Stuart G.), Benito, A. (Alberto), Fontanellas, A. (Antonio), Hervas-Stubbs, S. (Sandra), Mancheño, U. (Uxua), Mauleon, I. (Itsaso), Melero, I. (Ignacio), Pety, H. (Harald), Prieto, J. (Jesús), Salamanca, E. (Enrique) de, Sampedro, A. (Ana), Unzu, C. (Carmen)   +12 more
core  

Psychometric Properties of the Patient Reported Outcomes Measurement Information System (PROMIS) Scales in Acute Intermittent Porphyria Patients [PDF]

, 2022
Hetanshi Naik, Guy H. Montgomery, Jessica Overbey, Gary Winkel, Karl E. Anderson, Manisha Balwani, Bruce Wang, Brendan M. McGuire, Herbert L. Bonkovsky, Sioḃán Keel, Cynthia Levy, Angelika Erwin, John D. Phillips, Robert J. Desnick   +13 more
openalex   +1 more source

A Pharmacological Chaperone Therapy for Acute Intermittent Porphyria

Molecular Therapy, 2019
Mutations in hydroxymethylbilane synthase (HMBS) cause acute intermittent porphyria (AIP), an autosomal dominant disease where typically only one HMBS allele is mutated.
H. J. Bustad, K. Toska, Caroline Schmitt, M. Vorland, Lars Skjærven, J. Kallio, S. Simonin, P. Lettéron, J. Underhaug, S. Sandberg, Aurora Martínez   +10 more
semanticscholar   +1 more source

Porfiria aguda intermitente: relato de caso e revisão da literatura Acute intermittent porphyria: case report and review of the literature

Revista Brasileira de Terapia Intensiva, 2008
Porfiria aguda intermitente é patologia incomum, com conseqüências potencialmente graves se não reconhecida precocemente. Dentre as possíveis causas de indução de crises de porfiria, a redução da ingestão calórica é descrita na literatura.
Daniela von Ah Lopes, Marcelo Araújo do Valle, Jéfferson Taguti, Regina Celli Thomé Castro Taguti, Gustavo Navarro Betônico, Fabiana Clemente Medeiros   +5 more
doaj   +1 more source