Results 51 to 60 of about 12,176 (132)

Long‐Term Outcomes of Living Donor Liver Transplantation for Methylmalonic Acidemia

Pediatric Transplantation
Despite early diagnosis and medical interventions, patients with methylmalonic acidemia (MMA) suffer from multi‐organ damage and recurrent metabolic decompensations.
R. Minnee, S. Sakamoto, A. Fukuda, H. Uchida, K. Hirukawa, Masaki Honda, Shinya Okumura, Takashi Ito, T. U. Yilmaz, Yitian Fang, Toru Ikegami, Kwang-Woong Lee, M. Kasahara   +12 more
semanticscholar   +1 more source

Enhancing Functional Protein Design Using Heuristic Optimization and Deep Learning for Anti‐Inflammatory and Gene Therapy Applications

Proteins: Structure, Function, and Bioinformatics, Volume 93, Issue 7, Page 1238-1256, July 2025.
ABSTRACT Protein sequence design is a highly challenging task, aimed at discovering new proteins that are more functional and producible under laboratory conditions than their natural counterparts. Deep learning‐based approaches developed to address this problem have achieved significant success.
Ayşenur Soytürk Patat, Özkan Ufuk Nalbantoğlu   +1 more
wiley   +1 more source

Elucidation of Mechanism of Action in Drug Invention: Using Stable Isotope Tracers to Unravel Biochemical Kinetics

Pharmacology Research &Perspectives, Volume 13, Issue 3, June 2025.
ABSTRACT The invention of a therapeutic begins by characterizing features that differentiate healthy versus diseased states; this often presents as changes in the concentration of an analyte. Examples include elevated blood glucose in diabetes, high cholesterol in heart disease, and protein aggregation in neurodegeneration.
Rebecca A. Kohnz, Dan Zhou, Bin Lou, Huifang Yao, David McKenney, Dhiraj Dokwal, Ruth Villanueva, Heidi Kocalis, Jeanine E. Ballard, Jennifer Piesvaux, Stephen F. Previs   +10 more
wiley   +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

The Role of Metabolic Testing in the Diagnostic Evaluation of Adult NORSE: A Retrospective, Single‐Centre Study

European Journal of Neurology, Volume 32, Issue 6, June 2025.
ABSTRACT Background New‐onset refractory status epilepticus (NORSE) is a diagnostically challenging and severe epileptic presentation in which aetiology is an important predictor of outcome. This retrospective study aimed to investigate the utility of metabolic screening to determine the underlying cause in 42 patients with suspected NORSE, admitted to
Jennifer Kilmer, George Ransley, Elaine Murphy, Michael G. Hanna, Robert D. S. Pitceathly, Sanjeev Rajakulendran, Chiara Pizzamiglio   +6 more
wiley   +1 more source

Rapid Improvement of Hyperpigmentation, Growth, and Developmental Milestones With High‐Dose Hydroxocobalamin, Betaine, and Folinic Acid Treatment: The First Patient With Cobalamin G Deficiency in Taiwan

JIMD Reports, Volume 66, Issue 3, May 2025.
ABSTRACT In this report, we present the case of a 16‐month‐old patient who was diagnosed with cobalamin G deficiency at 4 months of age via whole exome sequencing by detecting compound heterozygous variants of uncertain significance (VUS) in the MTR gene: (1) c.1283T>A, p.Met428Lys; (2) c.2411T>C, p.Ile804Thr. Before the diagnosis, the initial clinical
Chi‐Tang Wu, Shih‐Ju Huang, Chu‐Chin Chen, Pao‐Chin Chiu   +3 more
wiley   +1 more source

Methylmalonic acidemia with homocystinuria, type cblC [PDF]

, 2020
Inserm
openalex   +1 more source

Refractory Myoclonus as a Presentation of Metabolic Stroke in A Child With Cobalamin B Methylmalonic Acidemia After Liver and Kidney Transplant

, 2022
Valerie G. Olson, Irene J. Chang, J. Lawrence Merritt, Dararat Mingbunjerdsuk   +3 more
openalex   +1 more source

Impaired Health‐Related Quality of Life in Children and Families Affected by Methylmalonic Acidemia [PDF]

, 2015
Kimberly Splinter, Anna‐Kaisa Niemi, Rachel Cox, Julia Platt, M. K. SHAH, Gregory M. Enns, Mureo Kasahara, Jonathan A. Bernstein   +7 more
openalex   +1 more source

Transcriptome analysis reveals a new insights toward molecular mechanisms of Methylmalonic acidemia in hepatocytes [PDF]

, 2023
Zhilei Zhang, Xin Wang, Yanyun Wang, Yahong Li, Peiying Yang, Yun Sun, Tao Jiang   +6 more
openalex   +1 more source