Results 241 to 250 of about 113,305 (364)

Mechanisms of chlorpromazine cholestasis: Hypersensitivity or toxic metabolite?

, 1978
James L. Boyer
openalex   +1 more source

Cholestasis in amoebic liver abscess. [PDF]

, 1985
Pranesh Nigam, Anju Gupta, Komal Kapoor, Guru Sharan, Binita Goyal, L D Joshi   +5 more
openalex   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Cholestatic Drug-Induced Liver Injury From Rad-140 Successfully Treated With Corticosteroids. [PDF]

ACG Case Rep J
Niazi B, Quach B, Fisher K, Peeraphatdit T.   +3 more
europepmc   +1 more source

Information Theory Analysis of CTX Shows Consistent Clinical Presentation

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Cerebrotendinous xanthomatosis (CTX) is a rare, metabolic disorder caused by pathogenic variants in CYP27A1. The classic clinical presentation includes infantile‐onset chronic diarrhea, juvenile‐onset bilateral cataracts, with development of tendon xanthomas and progressive neurological dysfunction.
Jennifer Hanson, Penelope E. Bonnen
wiley   +1 more source

<i>SCYL1</i> deficiency and intrafamilial variability: Two cases from Kuwait. [PDF]

Mol Genet Metab Rep
Kazem L, Al-Qabandi W, Albash B, Elshafie R, He M, Alsharhan H.   +5 more
europepmc   +1 more source

Nitrogen Scavengers: History, Clinical Considerations and Future Prospects

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Nitrogen scavengers play a critical role in treating acute and chronic hyperammonemia, especially in urea cycle disorders (UCDs), where impaired ammonia detoxification leads to toxic nitrogen accumulation. These agents complement low‐protein diets and urea cycle intermediates.
Sven Klassa, Johannes Häberle
wiley   +1 more source

iPSC-based hepatic organoids reveal a heterozygous MYO5B variant as driver of intrahepatic cholestasis. [PDF]

Hepatol Commun
Sgodda M, Gebel E, Dignas L, Alfken S, Eggenschwiler R, Stalke A, Dröge C, Pfister ED, Baumann U, Luedde T, Esposito I, Keitel V, Cantz T.   +12 more
europepmc   +1 more source

Urinary sulfated bile acid of patients with cholestasis.

, 1976
Isao Makino, Hirosuke HASHIMOTO, Akiko Tashiro, Kenjiro Shinozaki, Shoichi Nakagawa   +4 more
openalex   +2 more sources

Preoperative Multifrequency MR Elastography for Stratifying Wnt/β‐Catenin Pathway and Microvascular Invasion Phenotypes in Hepatocellular Carcinoma

Journal of Magnetic Resonance Imaging, Volume 62, Issue 5, Page 1466-1480, November 2025.
ABSTRACT Background The Wnt/β‐catenin signaling pathway and microvascular invasion (MVI) are associated with the prognosis of hepatocellular carcinoma (HCC). Purpose To evaluate the Wnt/β‐catenin pathway and MVI states using preoperative MR elastography (MRE). Study Type Prospective.
Huanhuan Chong, Yuchen Yang, Ruokun Li, Weiwei Rui, Jiahao Zhou, Yikun Wang, Qi Lin, Jing Guo, Huimin Lin, Fuhua Yan   +9 more
wiley   +1 more source