Results 161 to 170 of about 27,697 (237)

Rat models of musculoskeletal lysosomal storage disorders and their role in pre-clinical evaluation of gene therapy approaches. [PDF]

Mamm Genome
Marcó S, Muñoz S, Bosch F, Jimenez V.
europepmc   +1 more source

Lysosomal storage disorders [PDF]

The Indian Journal of Pediatrics, 1999
openaire   +1 more source

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

Prenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 more
wiley   +1 more source

Endocannabinoid receptor 2 is a potential biomarker and therapeutic target for the lysosomal storage disorders. [PDF]

J Inherit Metab Dis
Simonaro CM, Yasuda M, Schuchman EH.
europepmc   +1 more source

Attitudes Toward Prenatal Interventions in the Fanconi Anemia Community

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective In‐utero cell and gene therapies may offer prenatal treatment options for inherited diseases. Preclinical data suggests in‐utero (IU) hematopoietic stem cell transplantation (HSCT) could prevent Fanconi anemia (FA) related bone marrow failure without genotoxic conditioning or immune suppression.
Tony Lum, Catherine Lee, Tippi MacKenzie, Billie Lianoglou, Agnieszka Czechowicz   +4 more
wiley   +1 more source

Bridging Psychological Stress and Skin Cellular Aging: Flavonoids as a Dual‐Action Therapeutic Strategy

Phytotherapy Research, EarlyView.
ABSTRACT Psychological stress (or simply “stress”) is a major contributor to chronic disease worldwide, affecting 35% of the global population, including younger generations. Furthermore, it plays a significant role in human premature aging; hence, its detrimental effects on people's health compel us to comprehend and control the ways in which ...
Marco Duarte, Sílvia Santos Pedrosa, P. Raaj Khusial, Ana Raquel Madureira   +3 more
wiley   +1 more source

The Unmet Needs of Lysosomal Storage Disorders from Early Diagnosis to Caregiving Pathways: An Italian Perspective. [PDF]

J Clin Med
Castaman G, Linari S, Barbato A, Costantino N, Dionisi-Vici C, Menni F, Procopio E, Ramat S, Torquati F, Verrecchia E, Scarpa M.   +10 more
europepmc   +1 more source

Neuropathologic findings and age‐related differences in Finnish pediatric medico‐legal autopsies

Journal of Forensic Sciences, EarlyView.
Abstract Neuropathological examination plays a critical role in medico‐legal cause‐of‐death investigation, especially in determining the cause and manner of death in pediatric autopsies. Although a comprehensive neuropathological examination is recommended, limited data exists of the diagnostic yield of neuropathology consultations in such cases.
Elias Hakanen, Petteri Oura, Paula Katriina Vauhkonen   +2 more
wiley   +1 more source

Biomarkers for gene therapy clinical trials of lysosomal storage disorders. [PDF]

Mol Ther
Rossi A, Malvagia S, la Marca G, Parenti G, Brunetti-Pierri N.   +4 more
europepmc   +1 more source

Bleeding Disorders in Children With Genetic Diseases: A Narrative Review

Acta Paediatrica, EarlyView.
ABSTRACT Aim The lack of data on bleeding risk assessment in children with genetic diseases is concerning given their increased care needs and risk of haemorrhagic complications compared to the general population. Identification of haemostatic disorders is crucial for implementing preventive measures and mitigating bleeding risk.
Raphaelle Cagol, Mariam Sbeity Barakat, Marjolaine Willems, Tasnime Akbaraly, Biron‐Andreani Christine, Isabelle Diaz, Alexandre Theron   +6 more
wiley   +1 more source