Results 91 to 100 of about 25,294 (214)
Brain and Behavior, Volume 16, Issue 4, April 2026.Multi‐omics Mendelian randomization reveals causal roles of four autophagy‐related genes (FNBP1, IDUA, C9orf72, USP35) in ALS risk, with FNBP1 and USP35 increasing risk and IDUA and C9orf72 protective, shedding light on autophagy‐mediated mechanisms and offering early evidence of novel therapeutic targets for ALS.
Zheng Jiang +9 more
wiley +1 more source
Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.We developed and implemented a 500‐gene panel for phenotype‐driven genetic testing of Mendelian disorders in South Africa's public healthcare system, achieving a 46% diagnostic yield. This platform supports scalable, cost‐effective rare disease diagnosis and lays the foundation for broader genetic services in resource‐limited settings.
Nadia Carstens +3 more
wiley +1 more source
Proteoglycan Research, Volume 4, Issue 2, April 2026.ABSTRACT The extracellular matrix (ECM) provides a dynamic environment in which the fine balance between biosynthesis, degradation and/or maturation of matrix components critically governs its structure and function. It is well established that the ECM plays a central role not only in the physiological functions of tissues, but also in the pathogenesis
Roméo M. Diana +2 more
wiley +1 more source
Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood-onset beta-mannosidosis. [PDF]
, 2019 BACKGROUND: Deficiency in the enzyme β-mannosidase was described over three decades ago. Although rare in occurrence, the presentation of childhood-onset β-mannosidase deficiency consists of hypotonia in the newborn period followed by global development ...
Eisengart, Julie B. +8 more
core +1 more source
Noninflammatory disorders mimic juvenile idiopathic arthritis
International Journal of Pediatrics & Adolescent Medicine, 2018 Juvenile idiopathic arthritis (JIA) is the most common chronic childhood arthritis; unfortunately, no diagnostic tool is available. Genetic disorders with musculoskeletal involvement that mimic chronic polyarthritis should be considered in the ...
Sulaiman M. Al-Mayouf
doaj +1 more source
Anesthesiological risks in mucopolysaccharidoses
Italian Journal of Pediatrics, 2018 Background Patients suffering from mucopolysaccharidosis are among the most complex from the anesthesiological point of view, especially regarding the management of the airway.
Alessandra Moretto +3 more
doaj +1 more source
Bone marrow transplantation in patients with storage diseases: a developing country experience
Arquivos de Neuro-Psiquiatria, 2006 Bone marrow transplantation (BMT) is a therapeutic option for patients with genetic storage diseases. Between 1979 and 2002, eight patients, four females and four males (1 to 13 years old) were submitted to this procedure in our center.
Lange Marcos C. +10 more
doaj
Targeted delivery of lysosomal enzymes to the endocytic compartment in human cells using engineered extracellular vesicles. [PDF]
, 2019 Targeted delivery of lysosomal enzymes to the endocytic compartment of human cells represents a transformative technology for treating a large family of lysosomal storage diseases (LSDs).
Brown, Annie +4 more
core +1 more source
Clinical Case Reports, 2018 Key Clinical Message Homozygous or compound heterozygous mutation in the gene encoding N‐alpha‐acetylglucosaminidase (NAGLU) on chromosome 17q21 results in Sanfilippo B, resulting in excess accumulation of intralysosomal glycosaminoglycans ...
Dineshani Hettiarachchi +5 more
doaj +1 more source
Pediatric Allergy and Immunology, Volume 37, Issue 5, May 2026.
Laura Fiori +6 more
wiley +1 more source