Results 41 to 50 of about 11,007 (197)

Unifying the Communities of Early‐Onset Glycogen Storage Disease Type IV and Adult Polyglucosan Body Disease Through a Genetic Prevalence Study of GBE1‐Related Disease

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, H. Orhan Akman, Erin Chown, Deberah Goldman, Jeff Levenson, Qing Lu, Lindsay T. Michalovicz Gill, Matthew Morgan, Jennifer L. Orthmann‐Murphy, Natacha T. Pires, Rebecca Reef, Harriet Saxe, Moriel Singer‐Berk, Samantha Baxter   +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, Chelsey R. Canavan, Gregory A. Norman, Rudolph Fedrizzi, Tina C. Foster   +4 more
wiley   +1 more source

Astroglial conditional Slc13a3 knockout is therapeutic in murine Canavan leukodystrophy

Annals of Clinical and Translational Neurology
Canavan disease is a leukodystrophy caused by ASPA mutations that diminish oligodendroglial aspartoacylase activity, and is characterized by markedly elevated brain concentrations of the aspartoacylase substrate N‐acetyl‐l‐aspartate (NAA) and by ...
Vanessa L. Hull, Yan Wang, Jennifer McDonough, Meina Zhu, Travis Burns, Najmah Al Ramel, Ali Dehghani, Fuzheng Guo, David Pleasure   +8 more
doaj   +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, Maximilian David Mauritz, Victoria Rehmann, Michael Paulussen, Jorge Frank, Malik Aydin   +5 more
wiley   +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, Cristina A. Ghiani, Marcia Lloyd, Reuben Matalon, Dean Bok, Patrizia Casaccia, Jean de Vellis   +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

Management of Neuroinflammatory Responses to AAV-Mediated Gene Therapies for Neurodegenerative Diseases

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, Alison Shutterly, Ying Kai Chan, Barry J. Byrne, Manuela Corti   +4 more
doaj   +1 more source

Bioprinting of Microtissues Within Mechanically Tunable Support Baths to Engineer Anisotropic Musculoskeletal Tissues

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, Gabriela S. Kronemberger, Daniel J. Kelly   +2 more
wiley   +1 more source

Incidental pathologies on magnetic resonanceimaging in delayed milestones pediatric patients.

International Journal of Endorsing Health Science Research, 2021
Background:Delayed in achieving milestones is a rare but still devastating effect with a vast amount of etiologies resides in it. At least 89% of patients with development delay showed additional clinical features.
Ghazala Shahzad, Aashfa Hasan Shaikh, Vashdev Khimani, Peer Asad Aziz, ZeeshanNasir, Pir Abdul Ahad   +5 more
doaj   +1 more source

Reshaping study design for faster extrapolation‐based drug approval in pediatric inflammatory bowel diseases: An ESPGHAN–NASPGHAN position paper

Journal of Pediatric Gastroenterology and Nutrition, Volume 82, Issue 3, Page 867-894, March 2026.
Abstract Children with inflammatory bowel diseases (IBD) have limited access to the available advanced therapies, given the lengthy gap between adult and pediatric approval. We aimed to review key hurdles for pediatric trials and recommend practical solutions.
Dan Turner, Amit Assa, Mikkel Malham, Shira Yuval Bar‐Asher, Carla Rayan, Jeffrey S. Hyams, Holm H. Uhlig, Brad Pasternak, David C. Wilson, Hilary K. Michel, Lissy de Ridder, Eric Zuckerman, Marina Aloi, Peter Szitanyi, Marla C. Dubinsky, Anne M. Griffiths, Roberto Saldana, Javier Martín‐de‐Carpi, Eytan Wine, Richard K. Russell, Jeremy Adler, Joseph Picoraro   +21 more
wiley   +1 more source