Results 251 to 260 of about 424,818 (305)

A 17 Year Old With Developmental Delay Presenting With Increasing Confusion and Imbalance

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Methylmalonic acidemia is an autosomal recessive genetic disorder primarily caused by defects in methylmalonyl‐CoA mutase and cobalamin (vitamin B12) metabolism. These defects disrupt the tricarboxylic acid cycle and oxidative phosphorylation, leading to the abnormal accumulation of metabolic products such as methylmalonic acid, propionic acid,
Wei Zhao, Yingli Zhang, Hongliang Zheng
wiley   +1 more source

Point-of-care molecular diagnostics and drug-resistance mechanisms in neglected infectious diseases: current advances and future therapeutic opportunities. [PDF]

Front Cell Infect Microbiol
Zhang Q, Zhang X, Yang J, Li H.
europepmc   +1 more source

Uncovering G Protein‐Coupled Receptors: Novel Targets and Biomarkers for Predicting Glioma Prognosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Low‐grade gliomas (LGG) exhibit significant heterogeneity and recurrence risk. G protein‐coupled receptors (GPCR) contribute to glioma malignant progression, but their prognostic value remains unclear. This work attempts to formulate a GPCR‐based outcome‐predicting model for LGG. Methods Based on TCGA LGG data, the enrichment scores
Jun Yang, Dongxu Zhang, Dongyuan Liu, Da Lin, Hao Wang   +4 more
wiley   +1 more source

Prevalence and Distribution of Antimicrobial Resistance-Associated Mutations in <i>Mycoplasma genitalium</i> Identified Through Routine Molecular Diagnostics in Korea. [PDF]

Microorganisms
Lim HJ, Hong YT, Baek SH, Park MY, Kim MJ, Sohn YH, Yang YJ.   +6 more
europepmc   +1 more source

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech   +6 more
wiley   +1 more source

Molecular diagnostics for cutaneous leishmaniasis: progress towards fulfilling the WHO target product profile. [PDF]

Parasitology
Jarzabek J, Denny PW.
europepmc   +1 more source

Precision imaging and evolving therapies in paragangliomas and pheochromocytomas: from molecular diagnostics to imaging-guided management. [PDF]

Insights Imaging
Choucair A, Zdunek A, Liao M, Bodei L, Deandreis D, Das J, Barbe R, Bergsland E, Geyer S, Bidault F, Garcia G, Yeh R, Balleyguier C, Lassau N, Dercle L, Ammari S.   +15 more
europepmc   +1 more source

Tuberculosis Today: Microbial Insights, Epidemiological Trends, and the Role of Molecular Diagnostics. [PDF]

Pathogens
Maciejak-Jastrzębska A, Sygitowicz G, Brzezińska S, Bielska K, Augustynowicz-Kopeć E.   +4 more
europepmc   +1 more source