Results 81 to 90 of about 17,668 (251)

Common Hematologic Emergencies—Acute Promyelocytic Leukemia and Microangiopathic Hemolytic Anemias—A Pivotal Role of Clinical Laboratory

International Journal of Laboratory Hematology, EarlyView.
ABSTRACT Hematologic emergencies are urgent health conditions which result in significant mortality and morbidity unless timely therapeutic measures are taken. Therapeutic success depends on their timely and accurate recognition by hematology laboratory services.
Ganna Shestakova, Nicolas Ulrich Edgar, Anton V. Rets   +2 more
wiley   +1 more source

The digital epidemiology of phenylketonuria, aka folling’s disease: retrospective analysis and geographic mapping via google trends

Asian Journal of Medical Sciences, 2018
Background: Phenylketonuria, commonly known as PKU, is an inherited disorder in which there is an abnormally elevated blood level of the amino acid phenylalanine leading to several pathologies affecting multiple organs including the central nervous ...
Ahmed Al-Imam
doaj   +1 more source

Newborn screening using tandem mass spectrometry: A systematic review [PDF]

Objectives: To evaluate the evidence for the clinical effectiveness of neonatal screening for phenylketonuria (PKU) and medium-chain acyl-coA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (tandem MS).
Beverley, C., Chilcott, J., Eastham, J., Paisley, S., Pandor, A.   +4 more
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Maternal plasma docosahexaenoic acid (DHA) concentrations increase at the critical time of neural tube closure [PDF]

, 2017
No abstract ...
Freeman, Dilys J., Meyer, Barbara J.
core  

Stem microanatomical phenomic uncovers a potential role for ZmLSM2 in regulating maize stem bending strength

Journal of Integrative Plant Biology, EarlyView.
Maize ZmLSM2 (U6 small nuclear ribonucleoprotein specific Sm‐like 2) controls maize stem strength by affecting vascular bundle structure. Using advanced computed tomography imaging and artificial intelligence identified key stem traits linked to lodging resistance and developed a predictive model.
Ying Zhang, Zejia Wang, Jianjun Du, Jiawen Li, Guanmin Huang, Yanxin Zhao, Yanru Wang, Qingmei Men, Minkun Guo, Minggang Zhang, Xianju Lu, Chuanyu Wang, Qikun Liu, Xinyu Guo, Chunjiang Zhao   +14 more
wiley   +1 more source

GC-MS METHODS FOR AMINO ACIDS DETERMINATION IN DIFFERENT BIOLOGICAL EXTRACTS

Studia Universitatis Babes-Bolyai Chemia, 2016
Sensitive, precise and accurate analytical methods for free amino acids determination in biological samples were developed. Purification by ion exchange technique was followed by two steps derivatization method to obtain trifluoroacetyl ester ...
Monica CULEA, Andreea Maria IORDACHE, Elena HORJ, Cornelia MESAROȘ, Ramona BLEIZIFFER   +4 more
doaj  

Sequential magnetic resonance spectroscopic changes in a patient with nonketotic hyperglycinemia [PDF]

, 2012
Nonketotic hyperglycinemia (NKH) is a rare inborn error of amino acid metabolism. A defect in the glycine cleavage enzyme system results in highly elevated concentrations of glycine in the plasma, urine, cerebrospinal fluid, and brain, resulting in ...
Applegarth, Applegarth, Eun Sun Kim, Foster, Heindel, Huisman, Hyung Doo Park, Jeong Hee Shin, Ji Hun Shin, Ji Hye Kim, Ji Mi Jung, Jin Kyu Kim, Kikuchi, Korman, Korman, Kreis, Kure, McDonald, McDonald, Mourmans, Naas, Perry, Press, Se In Sung, Snider, So Yoon Ahn, Suzuki, Viola, Won Soon Park, Yun Sil Chang, Zammarchi   +30 more
core   +1 more source

ClAPRT3‐Mediated Adenine Salvage Pathway Enhances Purine Metabolites to Sustain Seed Vigour During Selfing in Cunninghamia lanceolata

Plant Biotechnology Journal, EarlyView.
ABSTRACT Selfing often causes inbreeding depression, especially during seed and seedling stages. However, some selfed progeny show low inbreeding depression with enhanced vigour, differing from inbred counterparts. This study investigates the molecular mechanisms maintaining seed vigour during selfing in Cunninghamia lanceolata.
Houyin Deng, Ye Zhao, Jie Liu, Kunjin Han, Juan Han, Meng Ke, Rong Huang, Ruping Wei, Yousry A. El‐Kassaby, Runhui Wang, Shu Yan, Yuhan Sun, Yun Li, Huiquan Zheng   +13 more
wiley   +1 more source

Screening for organic acidurias and aminoacidopathies in high-risk Brazilian patients: Eleven-year experience of a reference center

Genetics and Molecular Biology, 2019
Organic acidurias and aminoacidopathies are groups of frequent inborn errors of metabolism (IEMs), which are caused by mutations in specific genes that lead to loss of protein/enzyme or transport function with important deleterious effects to cell ...
Moacir Wajner, Angela Sitta, Aline Kayser, Marion Deon, Ana C. Groehs, Daniella M. Coelho, Carmen R. Vargas   +6 more
doaj   +1 more source

Interpretation of plasma amino acids in the follow-up of patients: The impact of compartmentation [PDF]

, 2018
Summary: Results of plasma or urinary amino acids are used for suspicion, confirmation or exclusion of diagnosis, monitoring of treatment, prevention and prognosis in inborn errors of amino acid metabolism.
Bachmann, Claude
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