Results 201 to 210 of about 22,003 (247)

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2110-2117, September 2026.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

Identification of novel compound heterozygous mutations in the GLB1 gene by whole-exome sequencing in a case of infantile GM1 gangliosidosis: a case report. [PDF]

Front Pediatr
Zhong G, Wang K, Liao K, Xie Q, Chen J, Yu R.   +5 more
europepmc   +1 more source

Young Adult Microglial Deletion of C1q Reduces Engulfment of Synapses and Partially Mitigates Cognitive Impairment in an Aggressive Alzheimer's Disease Mouse Model

Glia, Volume 74, Issue 9, September 2026.
Young adult deletion of microglial C1q reduced engulfment of Vglut1+ synapses and mitigated spatial cognitive deficits at 10 months of age in the amyloidopathy Arctic mouse model of AD. Neither fibrillar amyloid plaques nor soluble or insoluble Aβ levels in the hippocampus were affected by young adult microglial loss of C1q despite reduced phagocytosis
Tiffany J. Petrisko, Shu‐Hui Chu, Angela Gomez‐Arboledas, Blossom Zhang, Andrea J. Tenner   +4 more
wiley   +1 more source

Molecular, Metabolic and Inflammatory Patterns Involved in Pathogenesis of Anderson-Fabry Disease. [PDF]

Cells
Simonetta I, Baglio I, Tuttolomondo A.
europepmc   +1 more source

Smart Design: Integrating Artificial Intelligence and Gene Editing for Advanced mRNA Therapeutics

MedComm – Biomaterials and Applications, Volume 5, Issue 3, September 2026.
The challenges of mRNA therapy and the application of artificial intelligence and gene editing in the field of mRNA drugs. ABSTRACT Artificial intelligence (AI) and gene editing are increasingly being applied to the design and evaluation of mRNA therapeutics.
Haixing Shi, Shengbin Liu, Danni Dai, Shanhui Jiang, Tingchen Tian, Zhenyi Niu, Zhongzheng Xiang, Chaoyu Zou, Fang Liu, Xue Tang, Xin Jiang, Xiangrong Song   +11 more
wiley   +1 more source

Acute Airway Crisis in Mucopolysaccharidosis VI: Management Challenges. [PDF]

Diagnostics (Basel)
Tulebayeva A, Gadepalli C, Sharipova M.
europepmc   +1 more source

Oxysterols in Cancer: From Biosynthesis and Pathophysiology to Targeted Therapeutics

MedComm – Oncology, Volume 5, Issue 3, September 2026.
Mechanisms by which oxysterol targeting may enhance immunotherapy efficacy. This figure illustrates potential metabolic interventions that may improve antitumor immunity by modulating oxysterol related pathways. CH25H modulation may reduce 25‐HC accumulation, promote the conversion of cold tumors into hot tumors, and increase T cell infiltration and PD‐
Haili Shang, Yongsheng Li
wiley   +1 more source

Merging evans syndrome with mucopolysaccharidosis type II: a case report. [PDF]

Front Pediatr
Wang X, Zhang J, Tang Y, Liu C, Hu P, Yang Y, Chen H.   +6 more
europepmc   +1 more source

GMPPB-CDG Results in Lysosomal Dysfunction and Acid Alpha-Glucosidase Deficiency. [PDF]

J Inherit Metab Dis
Damiano C, Tarallo A, Gragnaniello V, Strollo S, Fecarotta S, Tuzzi MR, Polishchuk E, Montefusco S, Valanzano A, Assunto A, Minopoli N, Casa RD, Polishchuk R, Groen SLMI', Medina DL, Bertini E, Carrozzo R, Emmerich J, Schoser B, Pijnappel WWMP, Parenti G.   +20 more
europepmc   +1 more source