Results 81 to 90 of about 2,774 (200)
, 2017 The fatal infantile neuromuscular type is the most severe form of glycogen storage disease type IV (GSD IV). We report a case of a 22-day-old female neonate born at 34 weeks gestation with polyhyramnios, fetal hydrops, and severe hypotonia.
Marie-Anne Brundler +2 more
core +1 more source
Effect of Dupilumab on Airway Inflammation in Patients With Persistent Asthma
Allergy, EarlyView.EXPEDITION (NCT02573233) assessed the effects of dupilumab on airway inflammation in patients with persistent asthma using bronchoscopy and gene expression analysis. Dupilumab showed no appreciable effect on inflammatory cell types in biopsies or BALF samples.
Michael E. Wechsler +22 more
wiley +1 more source
Systemic Correction of Murine Glycogen Storage Disease Type IV by an AAV-Mediated Gene Therapy.
, 2017 Deficiency of glycogen branching enzyme (GBE) causes glycogen storage disease type IV (GSD IV), which is characterized by the accumulation of a less branched, poorly soluble form of glycogen called polyglucosan (PG) in multiple tissues.
Yi, Haiqing +6 more
core +1 more source
Boreas, EarlyView.We present a 25‐stage reconstruction of the ice‐flow pattern evolution of the Scandinavian Ice Sheet based on mapping and analysis of ~240 000 subglacial lineations and lineation fields across Norway, Sweden, Finland, and parts of NW Russia. Our reconstruction uses a glacial geomorphological inversion approach, in which we generated 611 individual ...
Frances E. G. Butcher +9 more
wiley +1 more source
, 2005 Glycogen storage disease type Ia (GSD-Ia) patients manifest a pro-atherogenic lipid profile but are not at elevated risk for developing atherosclerosis.
Shieh, Jeng-Jer +7 more
core +1 more source
Palaeowinds and depositional conditions from Holocene loess in Sweden and Finland
Boreas, EarlyView.The nature of deglacial and Holocene wind regimes in Fennoscandia is debated, as is the degree to which wind‐blown loess deposits exist in the region. Loess deposits in Fennoscandia are often relatively thin, discontinuous and less well‐sorted than typical loess, and questions remain over the degree of their post‐depositional reworking and the impact ...
Calum J. Edward +6 more
wiley +1 more source
Expectations and Concerns of Adoptive Families of Children With Fetal Alcohol Spectrum Disorder
Child &Family Social Work, EarlyView.ABSTRACT Fetal alcohol spectrum disorder (FASD) is considered a condition that persists throughout life in people who have been exposed to alcohol during the gestation period. During the different stages of their lives, individuals with FASD face different challenges and adversities that—without the right resources and strategies—can contribute to ...
Dídac Gómez‐Santabrígida +3 more
wiley +1 more source
International Journal of Bio-Resource and Stress ManagementThe present study was conducted during August, 2023 to March, 2024 at Veterinary Clinical Complex in department of Veterinary Gynaecology and Obstetrics, Post Graduate Institute of Veterinary Education and Research (PGIVER) Jaipur to study the ...
Lakshmi Yadav +5 more
doaj +1 more source
SDFs from Unoriented Point Clouds using Neural Variational Heat Distances
Computer Graphics Forum, EarlyView.We propose a novel variational approach for computing neural Signed Distance Fields (SDF) from unoriented point clouds. We first compute a small time step of heat flow (middle) and then use its gradient directions to solve for a neural SDF (right). Abstract We propose a novel variational approach for computing neural Signed Distance Fields (SDF) from ...
Samuel Weidemaier +5 more
wiley +1 more source
Two successful pregnancies in a woman with Glycogen Storage Disease (GSD) Type III
, 2015 BACKGROUND: Glycogen Storage Disease (GSD) type III is an autosomal recessive disease due to deficiency in glycogen debranching enzyme, amylo-1,6-glucosidase, which can present two different phenotypes (IIIa and IIIb). GSD IIIa occurs more frequently (85%
S. Paci +5 more
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