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- 44.83 rheumatology, orthopedics 1
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Long-term Results in Children with Henoch-Schönlein Nephritis
Published 2022-06-01Get full text
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Preclinical use of a clinically-relevant scAAV9/SUMF1 vector for the treatment of multiple sulfatase deficiency
Published 2025-01-01“…Abstract Background Multiple Sulfatase Deficiency (MSD) is a rare inherited lysosomal storage disorder characterized by loss of function mutations in the SUMF1 gene that manifests as a severe pediatric neurological disease. There are no available targeted therapies for MSD. …”
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Prenatal Counseling and Diagnosis of COX20 Gene-Related Mitochondrial Complex IV Deficiency: A Case Report and Literature Review
Published 2025-01-01“…We report a case of COX20 gene associated mitochondrial complex IV deficiency in a child, and describe the prenatal counseling and prenatal diagnosis of the mother in subsequent pregnancies to provide reference for prenatal counseling and prenatal diagnosis of this disease.Case Presentation: In this study, we presented a case of a pediatric patient who displayed symptoms such as gait instability, ataxia, cognitive impairment, dysarthria, muscle weakness, and absent reflexes. …”
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Hypoxia inducible factor-dependent upregulation of Agrp in glomus type I cells of the carotid body
Published 2025-02-01Get full text
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Point-of-care lung ultrasound in detecting pneumonia: A systematic review
Published 2024-01-01“…This review aimed to investigate the benefits of point-of-care LUS for the early diagnosis of pneumonia compared to traditional chest X-rays (CXR) in a subgroup analysis including pediatric, adult, and geriatric populations. # Material and Methods This systematic review examined systematic reviews, meta-analyses, and original research from 2017 to 2021, comparing point-of-care LUS and CXR in diagnosing pneumonia among adults, pediatrics and geriatrics. …”
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Impact of elexacaftor-tezacaftor-ivacaftor in lung transplantation for cystic fibrosis in the United States
Published 2025-02-01Get full text
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