Results 41 to 50 of about 6,916 (192)
Journal of Counseling &Development, EarlyView.ABSTRACT The symptoms of anxiety and depression are commonly reported within military‐ and non‐military‐affiliated populations, with considerable evidence available to counselors regarding which relational characteristics function as protective factors among these populations.
A. Stephen Lenz +2 more
wiley +1 more source
Mass Spectrometry Reviews, EarlyView.ABSTRACT The use of MALDI mass spectrometry for the analysis of carbohydrates and glycoconjugates is a well‐established technique and this comprehensive review is the twelfth update of the original article published in 1999 and brings coverage of the literature to the end of 2024.
David J. Harvey
wiley +1 more source
BMC Research Notes, 2023 Objective The study of the impact of some inherited defects in glycosylation on the biosynthesis of some lysosomal glycoproteins. Results description: Whole-exome sequencing revealed a homozygous variant; 428G > A; p. (R143K) in SRD5A3 in one patient and
Sahar Sabry +2 more
doaj +1 more source
Genetic Etiologies of Dystonia with Anarthria/Aphonia
Movement Disorders Clinical Practice, EarlyView.Abstract Background Dystonia with anarthria and/or aphonia (DAnAp) represents a distinctive phenotype manifesting across lifespan. Frequently associated with genetic disorders, early recognition is critical for diagnosis and management. Objectives To provide practical recommendations for the clinical evaluation of patients with DAnAp, enhancing ...
Anika Ménétrey +7 more
wiley +1 more source
Chemical Physics ImpactGBHs, or gum-based hydrogels, or superabsorbents, are derived from natural gums. In their unmodified form, these natural polysaccharides may be limited in their application due to physical matrix erosion caused by intensive swelling. Therefore, tailoring
Jyoti Sinha +5 more
doaj +1 more source
Frontiers in Genetics, 2020 Congenital disorders of glycosylation (CDG) are a rapidly growing family of genetic diseases with the phosphomannomutase 2 (PMM2)-CDG being the most common form of CDG.
Katerina Slaba +14 more
doaj +1 more source
Cytogenetic and Molecular Findings in Hydrops‐Related Mirror Syndrome
Prenatal Diagnosis, EarlyView.ABSTRACT Objective Mirror syndrome is a rare, life‐threatening condition in which maternal fluid overload mirrors fetal hydrops. Data on genetic findings in affected pregnancies are limited. We compared genetic diagnoses in hydrops cases with and without mirror syndrome.
Brian A. Burnett +11 more
wiley +1 more source
Orphanet Journal of Rare Diseases, 2018 Background Health-related Quality of Life (HrQoL) is a multidimensional measure, which has gained clinical and social relevance. Implementation of a patient-centred approach to both clinical research and care settings, has increased the recognition of ...
Carlota Pascoal +8 more
doaj +1 more source
Novel insights into the phenotype and long-term D-gal treatment in PGM1-CDG: a case series
Therapeutic Advances in Rare Disease, 2023 Phosphoglucomutase-1-congenital disorder of glycosylation (PGM1-CDG) (OMIM: 614921) is a rare autosomal recessive inherited metabolic disease caused by the deficiency of the PGM1 enzyme. Like other CDGs, PGM1-CDG has a multisystemic presentation.
Silvia Radenkovic +9 more
doaj +1 more source
Polymer Engineering &Science, EarlyView.Schematic overview of the study approach and key findings. ABSTRACT To evaluate the influence of extrusion on material performance, three processing methods, single extrusion (1x Ex), double extrusion (2x Ex), and double screw compounding (C), were investigated for virgin polypropylene (vPP), recycled PP (rPP), and a blend containing 10% rPP (rPP10 ...
J. Pötzlbauer +8 more
wiley +1 more source