Results 41 to 50 of about 2,664 (184)
The Egyptian Journal of Radiology and Nuclear Medicine, 2016 The aim of this study was to determine the key MRI findings in different disease causing macrocrania in early childhood that will help in early detection and diagnosis.
Dalia M. Moussa +4 more
doaj +1 more source
JIMD Reports, Volume 67, Issue 3, May 2026.Genetic prevalence study of glycogen storage disease type IV. In collaboration with the Rare Genomes Project at the Broad Institute of MIT and Harvard and the APBD Research Foundation, this study queried and curated variants in GBE1 from ClinVar, HGMD, and gnomAD to calculate the genetic prevalence of glycogen storage disease type IV (GSD IV).
Rebecca L. Koch +13 more
wiley +1 more source
It takes a village: Evolving from learning health system to learning community for health equity
Learning Health Systems, Volume 10, Issue 2, April 2026.Abstract Introduction Improving health equity requires engagement with partners outside of the clinical health system to address the socio‐political‐economic and structural drivers that shape health equity. Health systems need to focus on learning with communities to impact these conditions.
Sally A. Kraft +4 more
wiley +1 more source
Canavan disease: Diffusion magnetic resonance imaging findings
, 2003 A 15-month-old boy with Canavan disease is reported in whom a restricted diffusion pattern on diffusion magnetic resonance imaging (MRI) (high signal on b = 1,000 mm(2)/s images and low apparent diffusion coefficient [ADC] values) was evident in the ...
Sener, RN
core +1 more source
Cutaneous and non‐cutaneous diseases due to Mycoplasma pneumoniae in children
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 24, Issue 4, Page 464-469, April 2026.Summary Mycoplasma pneumoniae (MP) is a common pathogen responsible for diverse infections in children and adolescents, primarily affecting the respiratory tract. Besides causing atypical pneumonia, MP can also lead to extrapulmonary manifestations, including mucocutaneous, hematological, neurological, cardiac, and gastrointestinal symptoms.
Hanna Lindemann +5 more
wiley +1 more source
A novel Aspartoacylase (ASPA) Gene Mutation in Canavan Disease
, 2012 Canavan disease is a severe autosomal recessive leukodystrophy characterized by macrocephaly, ataxia, severe motor and mental retardation, dysmyelination, and progressive spongial atrophy of the brain.
Onay, Huseyin +4 more
core +1 more source
Aspartoacylase deficiency affects early postnatal development of oligodendrocytes and myelination
Neurobiology of Disease, 2010 Canavan disease (CD) is a neurodegenerative disease, caused by a deficiency in the enzyme aspartoacylase (ASPA). This enzyme has been localized to oligodendrocytes; however, it is still undefined how ASPA deficiency affects oligodendrocyte development ...
Natalia S. Mattan +6 more
doaj +1 more source
Loss of Kv8.2 in the Mouse Retina Is Associated With Altered One‐Carbon Metabolism
Journal of Neurochemistry, Volume 170, Issue 4, April 2026.Kv8.2 knockout mice, a model of KCNV2 retinopathy, exhibit impaired potassium homeostasis in photoreceptors and slowly progressive rod degeneration. To investigate metabolic adaptations accompanying this dysfunction, untargeted metabolomic profiling was performed on mouse retinas.
Karina Kruth, Sheila A. Baker
wiley +1 more source
Brain Sciences, 2020 Recently, adeno-associated virus (AAV)-mediated gene therapies have attracted clinical interest for treating neurodegenerative diseases including spinal muscular atrophy (SMA), Canavan disease (CD), Parkinson’s disease (PD), and Friedreich’s ...
Barbara A. Perez +4 more
doaj +1 more source
Advanced Science, Volume 13, Issue 18, 27 March 2026.This study presents a novel 4D bioprinting platform for engineering biomimetic musculoskeletal grafts. By tuning the mechanical properties of support baths, we enhance tissue fusion, collagen alignment, and cell differentiation. Using this strategy, we successfully fabricate scaled‐up, anisotropic tissues such as meniscus, articular cartilage, and ...
Francesca D. Spagnuolo +2 more
wiley +1 more source