Results 71 to 80 of about 8,276 (254)

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, Sobana Balakrishnan, Chris Florkowski, Andrew Davies, Elaine Barrington‐Ward   +4 more
doaj   +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  

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

Seminars in epileptology: How to diagnose status epilepticus in adults and children

Epileptic Disorders, Volume 27, Issue 4, Page 530-549, August 2025.
Abstract Status epilepticus (SE) can be regarded as the most severe expression of seizure activity characterized by a low probability of spontaneous cessation and mechanisms leading to metabolic and inflammatory derangements with increased risk of brain damage, alterations of neural networks, and potentially life‐threatening systemic complications ...
M. Leitinger, P. Bosque‐Varela, G. Kuchukhidze, U. Leitner, J. Höfler, G. Kalss, F. Rossini, G. Pilz, H. Novak, M. Mauritz, K. Poppert, A. Toma, E. Trinka   +12 more
wiley   +1 more source

Sunscreens - Which and what for? [PDF]

, 2005
It is well established that sun exposure is the main cause for the development of skin cancer. Chronic continuous UV radiation is believed to induce malignant melanoma, whereas intermittent high-dose UV exposure contributes to the occurrence of actinic ...
Ananthaswamy HN, Autier P, Azurdia RM, Birt DF, Bush JA, Damian DL, Darlington S, Gallagher RP, Gers-Balag H, Gil EM, Green A, Hallmans G, Hany J, Katiyar SK, Kipp C, Kricker A, Krutman J, Kunz PY, Lapidot N, Levy SB, Loeppky R, Mackie B, Mc Vean M, Mitchnik M, Montemarano AD, Noonan FP, Okereke CS, Perugini P, Petersen AB, Pinnell SR, Poh Agin P, Poon TS, Record IR, Rouabia M, Runger TM, Sayre RM, Scalia S, Schauder S, Schlumpf M, Schrader K, Schulz J, Schwarz VA, Stern RS, Tebbe B, Wamer W, Wang ZY, Wolf R, Wulf HC, Yarosh D, Zhao J   +49 more
core   +1 more source

Gene Dosage Sensitivity and Human Genetic Diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT Here we review the historical background and contemporary insights into genetic dominance, focusing on haploinsufficiency (HI), that is, when the function of only one allele of a gene is not enough to ensure a normal phenotype in a diploid organism.
Reiner A. Veitia, Johannes Zschocke, James A. Birchler   +2 more
wiley   +1 more source

Cardiac calcification in acute intermittent porphyria

Annals of Pediatric Cardiology, 2011
Aetiology of pericardial calcifications can be multifactorial. Tuberculosis has been reported as the most common cause. Other known causes include uraemia, asbestosis, post-traumatic or postoperative.
Tanmoy Ghatak, Afzal Azim, Arvind K Baronia, Banani Poddar   +3 more
doaj   +1 more source

Dental Treatment of the Patient with Porphyria [PDF]

, 2005
Porfirije su skupina nasljednih bolesti uzrokovanih defektnim enzimima na biosintetskom putu hema. Ovisno o defektu pojedinog enzima razlikujemo i razne vrste porfirija.
Berislav Perić, Niko Krakar
core   +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

Preventing hyperhomocysteinemia using vitamin B6 supplementation in Givosiran-treated acute intermittent porphyria: Highlights from a case report and brief literature review

Molecular Genetics and Metabolism Reports
Acute hepatic porphyrias are inherited metabolic disorders of heme biosynthesis characterized by the accumulation of toxic intermediate metabolites responsible for disabling acute neurovisceral attacks. Givosiran is a newly approved siRNA-based treatment
Isabelle Redonnet-Vernhet, Patrick Mercié, Louis Lebreton, Jean-Marc Blouin, Didier Bronnimann, Samir Mesli, Claire Guibet, Emmanuel Ribeiro, Noémie Gensous, Pierre Duffau, Laurent Gouya, Emmanuel Richard   +11 more
doaj   +1 more source