Results 1 to 10 of about 3,600,121 (311)

Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings

BMC Medical Genetics, 2018
Background Methylmalonic acidemia (MMA) is an autosomal recessive inherited disorder caused by complete or partial deficiency of the enzyme methylmalonyl-CoA mutase (mut0 enzymatic subtype or mut– enzymatic subtype, respectively); a defect in the ...
Yiming Lin, Chunmei Lin, Weihua Lin, Zhenzhu Zheng, Mingya Han, Qingliu Fu   +5 more
doaj   +1 more source

A new method for quantifying causative and diagnostic markers of methylenecyclopropylglycine poisoning

Toxicology Reports, 2019
Background: Up to now quantification of hypoglycin A in serum and urine in the range of nmols to μmols per liter plus the measurement of accumulated acyl conjugates have been used for the diagnosis of poisoning by fruits or seeds ofSapindaceae in humans ...
Johannes Sander, Michael Terhardt, Stefanie Sander, Sabine Aboling, Nils Janzen   +4 more
doaj   +1 more source

Lesions of “uncertain malignant potential” in the breast (B3) identified with mammography screening

BMC Cancer, 2018
Background Core needle biopsy (CNB) is a standard diagnostic procedure in the setting of breast cancer screening. However, CNB may result in the borderline diagnoses of lesion of uncertain malignant potential (B3). The aim of this study was to access the
Christiane Richter-Ehrenstein, Katharina Maak, Sonja Röger, Tilman Ehrenstein   +3 more
doaj   +1 more source

Population-scale cross-sectional observational study for AI-powered TB screening on one million CXRs

npj Digital Medicine
Traditional tuberculosis (TB) screening involves radiologists manually reviewing chest X-rays (CXR), which is time-consuming, error-prone, and limited by workforce shortages.
Prateek Munjal, Ahmed Al Mahrooqi, Ronnie Rajan, Andrew Jeremijenko, Iftikhar Ahmad, Muhammad Imran Akhtar, Marco A. F. Pimentel, Shadab Khan   +7 more
doaj   +1 more source

Early Check: translational science at the intersection of public health and newborn screening

BMC Pediatrics, 2019
Background Newborn screening (NBS) occupies a unique space at the intersection of translational science and public health. As the only truly population-based public health program in the United States, NBS offers the promise of making the successes of ...
Donald B. Bailey, Lisa M. Gehtland, Megan A. Lewis, Holly Peay, Melissa Raspa, Scott M. Shone, Jennifer L. Taylor, Anne C. Wheeler, Michael Cotten, Nancy M. P. King, Cynthia M. Powell, Barbara Biesecker, Christine E. Bishop, Beth Lincoln Boyea, Martin Duparc, Blake A. Harper, Alex R. Kemper, Stacey N. Lee, Rebecca Moultrie, Katherine C. Okoniewski, Ryan S. Paquin, Denise Pettit, Katherine Ackerman Porter, Scott J. Zimmerman   +23 more
doaj   +1 more source

Distribution and Genetic Characterization of the MNS Blood Group in Multi-Ethnic Populations of East China

Journal of Blood Medicine
Zihao Xu,1,* Zhihong Fang,2,* Rong Lu,1 Jia Jiang,1 Shuhong Xie,3 Mingyuan Wang,1 Yiming Jin,1 Zhen Liu1 1Department of Blood Screening Test, Suzhou Blood Center, Suzhou, People’s Republic of China; 2Department of Laboratory Medicine ...
Xu Z, Fang Z, Lu R, Jiang J, Xie S, Wang M, Jin Y, Liu Z   +7 more
doaj  

Clinical and genetic analysis of four Chinese patients with holocarboxylase synthetase deficiency and metabolic acidosis

Orphanet Journal of Rare Diseases
Background Holocarboxylase synthetase (HLCS) deficiency is an autosomal recessive organic acidaemia. This paper aimed to describe the clinical, biochemical and molecular features of four Chinese patients with HLCS deficiency, and to research the novel ...
Zhenzhu Zheng, Weilin Peng, Yiming Lin, Weihua Lin, Gaoxiong Wang   +4 more
doaj   +1 more source

Hypoglycemic effect of Camellia chrysantha extract on type 2 diabetic mice model

Bangladesh Journal of Pharmacology, 2017
The aim of this study was to investigate the hypoglycemic effect of Camellia chrysantha using type 2 diabetic mice model. The ethyl acetate/dichloromethane extract exhibited the most effective hypoglycemic effect.
Lai Wang, Debmalya Roy, Sen Sen Lin, Sheng Tao Yuan, Li Sun   +4 more
doaj   +1 more source

Acknowledgement to Reviewers of International Journal of Neonatal Screening in 2019

International Journal of Neonatal Screening, 2020
International Journal of Neonatal Screening Editorial Office
doaj   +1 more source

Effects of variations in hysterectomy status on population coverage by cervical screening

Australian and New Zealand Journal of Public Health, 2003
Objectives: To investigate geographic differences in hysterectomy rates and effects on estimated screening coverage in South Australia. Methods: Hysterectomy data from South Australian hospitals for 1992–2000 were used to calculate age‐specific ...
Kerri Beckmann, Penny Iosifidis, Lesley Shorne, Sue Gilchrist, David Roder   +4 more
doaj   +1 more source