Results 91 to 100 of about 12,610 (204)

State‐of‐the‐Art on Model‐Informed Drug Development Approaches for Pediatric Rare Diseases

CPT: Pharmacometrics &Systems Pharmacology, Volume 14, Issue 11, Page 1743-1759, November 2025.
ABSTRACT Pediatric rare diseases present unique challenges for drug development due to small patient populations, ethical constraints on clinical trial design, and limited prospectively defined natural history data. Model‐Informed Drug Development (MIDD) has emerged as a powerful paradigm to address these challenges by leveraging quantitative methods ...
Rajesh Krishna, Amitava Mitra, Matthew L. Zierhut, Lilly East, Chandra Durairaj   +4 more
wiley   +1 more source

Long-term clinical outcomes and health-related quality of life in patients with isolated methylmalonic acidemia after liver transplantation: experience from the largest cohort study in China

World Journal of Pediatrics
Liver transplantation (LT) has been proposed as a viable treatment option for selected methylmalonic acidemia (MMA) patients. However, there are still controversies regarding the therapeutic value of LT for MMA.
Yi-Zhou Jiang, G. Zhou, Lin Wei, W. Qu, Z. Zeng, Ying Liu, Yule Tan, Jun Wang, Zhi-jun Zhu, Li-Ying Sun   +9 more
semanticscholar   +1 more source

Methylmalonic acidemia with homocystinuria, type cblC [PDF]

, 2020
INSERM
openalex   +1 more source

Design Strategies for Novel Lipid Nanoparticle for mRNA Vaccine and Therapeutics: Current Understandings and Future Perspectives

MedComm, Volume 6, Issue 10, October 2025.
This review summarizes strategies to optimize lipid nanoparticles (LNPs) for improved targeting, endosomal escape, and safety. It highlights mRNA design, alternative delivery systems, and recent therapeutic advances across infectious diseases, cancer, and drug applications.
Xiaochi Li, Junli Li, Jiazheng Wei, Weixin Du, Cheng Su, Xiaobin Shen, Aihua Zhao, Miao Xu   +7 more
wiley   +1 more source

Biochemical Pattern of Methylmalonyl-CoA Epimerase Deficiency Identified in Newborn Screening: A Case Report

International Journal of Neonatal Screening
Methylmalonyl-CoA epimerase enzyme (MCEE) is responsible for catalyzing the isomeric conversion between D- and L-methylmalonyl-CoA, an intermediate along the conversion of propionyl-CoA to succinyl-CoA.
Evelina Maines, Roberto Franceschi, Francesca Rivieri, Giovanni Piccoli, Björn Schulte, Jessica Hoffmann, Andrea Bordugo, Giulia Rodella, Francesca Teofoli, Monica Vincenzi, Massimo Soffiati, Marta Camilot   +11 more
doaj   +1 more source

Metabolic signatures and a diagnostic model for citrin deficiency based on urinary organic acids

Clinical and Translational Medicine, Volume 15, Issue 9, September 2025.
Urinary organic acid profiles in NICCD show enrichment in energy and amino acid pathways. The random forest model differentiates NICCD from non‐specific metabolic abnormalities, both with elevated 4‐hydroxyphenyllactic acid and 4‐hydroxyphenylpyruvic acid, which may cause misdiagnosis. Model explanation and web application help physicians make clinical
Peiyao Wang, Peichun Chen, Xinjie Yang, Ziyan Cen, Yu Zhang, Qimin He, Benqing Wu, Xinwen Huang   +7 more
wiley   +1 more source

Establishment of a Machine Learning‐Based Prediction Model for Short‐Term Adverse Prognosis in Neonatal Bacterial Meningitis

iLABMED, Volume 3, Issue 3, Page 292-302, September 2025.
This study systematically evaluated multiple machine learning models to predict short‐term adverse prognosis in neonatal bacterial meningitis using a retrospective cohort of 433 infants. The logistic regression model, combining mRMR‐selected and clinically prioritized variables, demonstrated optimal predictive performance (AUC = 0.908).
Ying Chen, Shengpei Wang, Chi Wang, Na Zhang, Ying Li, Hangting Shi, Peicen Zou, Huiguang He, Yajuan Wang   +8 more
wiley   +1 more source

NMR Spectroscopy in Diagnosis and Monitoring of Methylmalonic and Propionic Acidemias

Biomolecules
Although both localized nuclear magnetic resonance spectroscopy (MRS) and non-localized nuclear magnetic resonance spectroscopy (NMR) generate the same information, i.e., spectra generated by various groups from the structure of metabolites, they are ...
Calin Deleanu, Alina Nicolescu
doaj   +1 more source

Anaesthetic considerations in a child with methylmalonic acidemia and its literature review [PDF]

, 2020
Anju Gupta, Yamini Dudeja, Rashmi Ramachandran, Rajeshwari Subramaniam   +3 more
openalex   +1 more source

Methylmalonic Acidemia [PDF]

, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop   +3 more
openaire   +2 more sources