Results 71 to 80 of about 6,468 (222)

The Concise Guide to PHARMACOLOGY 2025/26: Enzymes

British Journal of Pharmacology, Volume 182, Issue S1, Page S307-S403, December 2025.
The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,
Stephen P. H. Alexander, Doriano Fabbro, Alasdair J. Gibb, Eamonn Kelly, Alistair A. Mathie, Chloe J. Peach, Emma L. Veale, Jane F. Armstrong, Elena Faccenda, Simon D. Harding, Christopher Southan, Jamie A. Davies, Stephanie Annett, Detlev Boison, Kathryn Elisa Burns, Carmen Dessauer, Jürg Gertsch, Nuala Ann Helsby, Angelo A. Izzo, Rennolds Ostrom, Ester Pagano, Andreas Papapetropoulos, Nigel J. Pyne, Susan Pyne, Tracy Robson, Roland Seifert, Johannes‐Peter Stasch, Csaba Szabo, Mario van der Stelt, Albert van der Vliet, Val Watts, Szu Shen Wong   +31 more
wiley   +1 more source

Recent Advancements in Known and Emerging Risk Factors of Hepatocellular Carcinoma

Cancer Medicine, Volume 14, Issue 21, November 2025.
ABSTRACT Background Hepatocellular carcinoma (HCC) is the most common primary liver malignancy and a leading cause of cancer‐related deaths worldwide. Despite advancements in antiviral therapies for hepatitis B (HBV) and hepatitis C (HCV), HCC incidence continues to rise due to metabolic dysfunction‐associated steatotic liver disease (MASLD), obesity ...
Muhammad Masroor Hussain, Bi Feng, Ju‐Mei Wang, Ao‐Qiang Zhai, Fu‐yu Li, Hai‐jie Hu   +5 more
wiley   +1 more source

A 12-month, longitudinal, intervention study examining a tablet protein substitute preparation in the management of tyrosinemia

Molecular Genetics and Metabolism Reports
Protein substitutes (PS) without tyrosine (Tyr) and phenylalanine (Phe), are an essential source of synthetic protein in the treatment of tyrosinemia (HT).
Anne Daly, Sharon Evans, Alex Pinto, Catherine Ashmore, Anita MacDonald   +4 more
doaj   +1 more source

A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report

Orphanet Journal of Rare Diseases, 2009
A male patient, born to unrelated Belgian parents, presented at 4 months with epistaxis, haematemesis and haematochezia. On physical examination he presented petechiae and haematomas, and a slightly enlarged liver.
Kvittingen Eli-Anne, Holme Elisabeth, Zeevaert Renate, Cassiman David, Jaeken Jaak   +4 more
doaj   +1 more source

Food for thought : palatable eponyms from Pediatrics [PDF]

, 2014
Food-related medical terms are frequently used in the field of pediatrics for the definition, recognition and diagnosis of disease. Almost 40 food-related medical eponyms used in Pediatrics have been ‘cherry picked’ and described by the authors.
Kipersztok, Lisa, Masukume, Gwinyai
core  

Pseudodendritic keratitis in citrullinemia; a report of an unusual and novel ocular finding in this metabolic disorder

American Journal of Ophthalmology Case Reports
Purpose: To report a 15 year old girl with citrullinemia type 1 and 2 accompanied by neurologic signs and symptoms and a novel ocular complaint in cornea like tyrosinemia type 2.
Davoud Amirkashani, Saeid Talebi, Mohammad Vafaei shahi, Ali Zekri, Parisa Abdi, Mahdokht Mehramiz   +5 more
doaj   +1 more source

Clinical and molecular characterization of three patients with Hepatocerebral form of mitochondrial DNA depletion syndrome: a case series

BMC Medical Genetics, 2019
Background Mitochondrial DNA depletion syndromes (MDS) are clinically and phenotypically heterogeneous disorders resulting from nuclear gene mutations.
Ghazale Mahjoub, Parham Habibzadeh, Hassan Dastsooz, Malihe Mirzaei, Arghavan Kavosi, Laila Jamali, Haniyeh Javanmardi, Pegah Katibeh, Mohammad Ali Faghihi, Seyed Alireza Dastgheib   +9 more
doaj   +1 more source

Tyrosinemia [PDF]

Liver Transplantation, 2002
Russell, Lam, Arturo, Armenta, Murat, Kilic, Saul J, Karpen, Fernando, Scaglia, Philip, Seu, John A, Goss   +6 more
openaire   +2 more sources

Pediatric liver transplantation from neonatal donors [PDF]

, 1992
Sixteen recipients of neonatal liver grafts were compared with 114 contemporaneous pediatric recipients of grafts from older donors. Graft and patient survival were worse in the neonatal group although the differences were not statistically significant ...
Bismuth H, Brolsch CE, Buchanan GR, Hamil PVV, Kalayoglu M, Maisels MJ, Starzl TE, Starzl TE, Urbach AH, Zitelli BJ   +9 more
core   +1 more source

Genome editing with Cas9 in adult mice corrects a disease mutation and phenotype [PDF]

, 2013
We demonstrate CRISPR-Cas9–mediated correction of a Fah mutation in hepatocytes in a mouse model of the human disease hereditary tyrosinemia. Delivery of components of the CRISPR-Cas9 system by hydrodynamic injection resulted in initial expression of the
Anderson, Daniel Griffith, Benedetti, Eric, Bogorad, Roman, Chen, Sidi, Grompe, Markus, Jacks, Tyler E, Kotelianski, Victor E., Sharp, Phillip A., Xue, Wen, Yin, Hao   +9 more
core   +1 more source