Results 161 to 170 of about 46,284 (262)

Characteristics of gene mutations in Vietnamese pediatric patients with Inborn Errors of Immunity: a cross-sectional study. [PDF]

Orphanet J Rare Dis
Anh PNL, Tuan NM, Cuc CTT, Khanh LTX, Thach PNQ, Hung NT, Minh NNQ, Bao BC, Nghia H, Vu HA, Xinh PT.   +10 more
europepmc   +1 more source

Maternal‐Fetal Administration of Risdiplam Partially Rescues the SMNΔ7 Mouse Model of Spinal Muscular Atrophy

Annals of Neurology, EarlyView.
Objective Spinal muscular atrophy (SMA) is caused by deletions or mutations in the survival motor neuron 1 (SMN1) gene and subsequent reduction in the expression of survival motor neuron (SMN) protein. The disease is characterized by degeneration of α motor neurons and subsequent muscle atrophy.
Emma R. Sutton, Ariane Beauvais, Rebecca Yaworski, Hugh J. McMillan, Rashmi Kothary   +4 more
wiley   +1 more source

Editorial: Inborn errors of carbohydrate metabolism volume II. [PDF]

Front Genet
García-Ortíz JE, Doederlein-Schwartz IV, Abreu-González M, Martínez-Duncker I.   +3 more
europepmc   +1 more source

Synergistic Advanced Oxidation and Physicochemical Treatment Strategies for Antibiotic Removal and Resistance Mitigation in Water

Asia-Pacific Journal of Chemical Engineering, EarlyView.
ABSTRACT The presence of antibiotics in water not only causes environmental pollution but also increases the growth of antibiotic‐resistant bacterial genes, which pose serious threats to human beings and other water residents. Large numbers of people are reportedly affected by the resistant bacterial genes, as many broad‐spectrum antibiotics are not ...
Amir Zada, Shohreh Azizi
wiley   +1 more source

Clinical characteristics and long-term prognosis of talaromycosis in children with novel and reported inborn errors of immunity. [PDF]

Front Immunol
Lu Q, Li X, Jiang Z, Li T, Li B, Huang L, Huang Q, Hu D, Lv C, Liu G, Zhong J, Lin J, Liao L, Qin Q, Qin S, Shao H, Wang Z, Li X, Jiang L, Zhang X, Wei L, Liang J, Zheng D, Wang S, Wu W, Pan K, Zheng Y, Li Y, Tang Q, Jiang M, Liao W, Cao C.   +31 more
europepmc   +1 more source

Revisiting paravertebral muscles in European rabbits (Oryctolagus cuniculus) and European brown hares (Lepus europaeus) (Leporidae; Lagomorpha)

The Anatomical Record, EarlyView.
Abstract Domesticated European rabbits (Oryctolagus cuniculus) have long been chosen as laboratory model organisms. Despite this, there has been no definitive study of the vertebral musculature of wild rabbits. Relevant descriptions of well‐studied veterinary model mammals (such as dogs) are generally applicable, but not appropriate for a species ...
Nuttakorn Taewcharoen, Emma Sherratt, Philip Stott, Rachel Norris   +3 more
wiley   +1 more source

Exposure to Type 1 and Type 2 Maternal Diabetes is Associated with Stage 3-5 Retinopathy of Prematurity. [PDF]

Ophthalmol Sci
Lewis A, Bakis I, Love A, Sucre J, Van Driest SL, Bastarache L, Padovani-Claudio DA.   +6 more
europepmc   +1 more source

Morphological and morphometric aspects of the equine aortic valve: New insights for comparative studies in mammals

The Anatomical Record, EarlyView.
Abstract New data on the equine aortic valve obtained using advanced techniques is especially important given the greater availability of animal models for translational research. Here we characterized the morphological and morphometric aspects of the equine aortic valve from 60 healthy hearts collected at equine abattoirs.
Vitor Pires Pereira, Victoria Brondani de Oliveira, Carlos Eduardo Seyfert, Luciano de Morais‐Pinto   +3 more
wiley   +1 more source

A Systematic Bioinformatic Analysis of the miRNA Pathway in Inborn Errors of Amino Acid Metabolism Disorders. [PDF]

Mol Syndromol
Bayrak H, Sharafi P, Kılıç M.
europepmc   +1 more source