Results 41 to 50 of about 12,176 (132)

Methylmalonic acidemia caused by Homozygous Missense variant c.1837C>T in Exon 11 of the MMUT gene which is Variant of Uncertain Significance: A Case Report

Fortune Journal of Health Sciences, 2023
Methylmalonic ac i demia (MMA) is an autosomal recessive Inborn Error of Metabolism originating from a disorder of propionate metabolism. Although rare, it is one of the most frequent inborn errors of organic acid metabolism.
Susheel kumar, MD Pediatrics Fnb Saini. MBBS, G. Durga, Phani Kumar, Mashingbonio Dirinamai, Bhutwala Senky, Susheel Manishkumar, Ajay kumar saini, Seema kumari kumar Saini, Methylmalonic, B. Manishkumar, S. K. Saini, S. Kumari   +12 more
semanticscholar   +1 more source

Trial Readiness: Understanding the Natural History of Rare Diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Inherited metabolic diseases (IMD) represent the largest and still growing group of treatable genetic disorders and are increasingly amenable to targeted interventions that achieve varying degrees of prognostic improvement. Innovative therapies are on the horizon and offer promising opportunities for disease‐changing treatment for a variety of
Thomas Opladen, Ulrike Mütze, Florian Gleich, Sven F. Garbade, Oya Kuseyri Hübschmann, Matthias Zielonka, Stefan Kölker   +6 more
wiley   +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

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

Aberrant methylmalonylation underlies methylmalonic acidemia and is attenuated by an engineered sirtuin

Science Translational Medicine, 2022
Organic acidemias such as methylmalonic acidemia (MMA) are a group of inborn errors of metabolism that typically arise from defects in the catabolism of amino and fatty acids.
PamelaSara E. Head, S. Myung, Yong Chen, Jessica L. Schneller, Cindy X Wang, N. Duncan, Pauline R. Hoffman, David Chang, Abigael Gebremariam, M. Gucek, I. Manoli, C. Venditti   +11 more
semanticscholar   +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

Delivering the Message: Translating mRNA Therapy for Liver Inherited Metabolic Diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.
ABSTRACT mRNA encapsulated in lipid nanoparticles (LNPs) provides a dual revolution in the field of gene therapy. mRNA brings fleeting efficacy and the possibility to adjust the therapy to clinical needs. LNP, as a non‐viral vehicle with flexible organ‐targeting, overcomes most immune complications of viral gene therapy. mRNA‐LNP has rapidly progressed
Sonam Gurung, Dany Perocheau, Roopkatha Ghosh, Stephen L. Hart, Julien Baruteau   +4 more
wiley   +1 more source

Management of Atypical Haemolytic Uraemic Syndrome With Triggers: Diagnostic and Treatment Algorithms From an Asia‐Pacific Perspective

Nephrology, Volume 30, Issue 9, September 2025.
Management of trigger‐related aHUS in Asia‐Pacific regions. ABSTRACT Complement‐amplifying events/conditions associated with thrombotic microangiopathy (TMA) include pregnancy/postpartum period, severe hypertension, autoimmune diseases, drug exposures, infections and organ transplantation.
Hee Gyung Kang, Danny Hsu, Noritoshi Kato, Jin Seok Kim, Masayoshi Okumi, Min‐Hua Tseng, Kun‐Hua Tu, Desmond Yat Hin Yap, Wai H. Lim   +8 more
wiley   +1 more source

Exploring the Potential and Advancements of Circular RNA Therapeutics

Exploration, Volume 5, Issue 4, August 2025.
Given the remarkable advantages in terms of stability, sustained expression profile, safety, wide range of druggable targets, scalable and cost‐effective manufacturing capabilities, circRNA is currently undergoing intensive investigation for various therapeutic applications such as vaccines, protein replacement, genetic disease treatment, gene therapy,
Lei Wang, Lianqing Wang, Chunbo Dong, Jialong Liu, Guoxin Cui, Shan Gao, Zhida Liu   +6 more
wiley   +1 more source

Late‐Onset Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD): A Case Report With a Complex Biochemical Profile

JIMD Reports, Volume 66, Issue 4, July 2025.
ABSTRACT Three clinical entities of multiple acyl‐CoA dehydrogenase deficiency (MADD, OMIM#231680) can be differentiated: two severe neonatal forms and one later‐onset form that can manifest in adulthood. The latter typically presents with muscle‐related symptoms, such as exercise intolerance and muscle weakness, with an increase in all chain‐length ...
Romain Penicaud, Jean‐Baptiste Ferron, Xavier Valette, Pierrick Bauduin, Maxime Faisant, Manuel Schiff, Alexandre Nguyen, Fanny Fontaine, Stéphane Allouche   +8 more
wiley   +1 more source