Results 121 to 130 of about 17,668 (251)
Clinical Genetics, Volume 109, Issue 2, Page 211-217, February 2026.This review demonstrates how amniotic fluid biochemical testing provides critical phenotypic evidence (ACMG PP4) for reclassifying variants of uncertain significance (VUS) in prenatal organic acidurias. Integrating metabolite analysis with genetic testing enhances diagnostic accuracy and enables informed clinical decisions for affected families ...
Kaili Yin, Qingwei Qi
wiley +1 more source
Disorders of Fatty Acid Oxidation in the Era of Tandem Mass Spectrometry in Newborn Screening
, 2008 With recent advances in laboratory technology with tandem mass spectrometry (MS/MS), the number of infants identified with a fatty acid oxidation disorder has increased dramatically.
Banta-Wright, Sandra A. +2 more
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Geographic Divergence and the Genomic Basis of Reproductive Diapause in Drosophila triauraria
Molecular Ecology, Volume 35, Issue 3, February 2026.ABSTRACT Adjusting reproduction timing to environmental cues is essential for lifetime fitness. In many insects, reproductive diapause shows clinal variation along environmental gradients such as photoperiod and temperature. How such continuous trait variation may be encoded at the molecular level and maintained in the presence of gene flow remains ...
Takako Fujichika +4 more
wiley +1 more source
New Phytologist, Volume 249, Issue 3, Page 1268-1282, February 2026.Summary Exogenously applied auxins are essential for establishing cell lines in tissue cultures and maintaining their proliferation. Cell lines may develop the ability to proliferate even in media lacking auxin, they may become auxin‐habituated. This study investigated the mechanisms underlying this process.
Pavel Jelínek +11 more
wiley +1 more source
Journal of the Science of Food and Agriculture, Volume 106, Issue 2, Page 1283-1298, 30 January 2026.Abstract BACKGROUND Rising atmospheric carbon dioxide (CO2) is a key driver of climate change, making it essential to understand its effects on crop growth and metabolism. This study examines maize C01 (inbred) and B73 (mutant), under elevated CO2 (600, 1200 and 1800 ppm) at three growth stages [40, 70 and 90 days after sowing (DAS)].
Pirzada Khan +5 more
wiley +1 more source
Newborn screening for inborn errors of metabolism and endocrinopathies: an update [PDF]
, 2018 Newborn screening for inborn errors of metabolism and endocrinopathies has expanded during the last two decades, mainly owing to the introduction of new technologies such as tandem mass spectrometry and DNA analysis.
Fingerhut, Ralph, Olgemöller, Bernhard
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Effect of adrenocorticotropin or adenosin-3',5'-monophosphate on in vitro adrenal synthesis [PDF]
, 1964 Scriba, Peter Christian
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Creatine deficiency syndromes and the importance of creatine synthesis in the brain [PDF]
, 2018 Creatine deficiency syndromes, due to deficiencies in AGAT, GAMT (creatine synthesis pathway) or SLC6A8 (creatine transporter), lead to complete absence or very strong decrease of creatine in CNS as measured by magnetic resonance spectroscopy.
Braissant, Olivier +3 more
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AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: A review [PDF]
, 2018 Summary: Creatine deficiency syndromes, either due to AGAT, GAMT or SLC6A8 deficiencies, lead to a complete absence, or a very strong decrease, of creatine within the brain, as measured by magnetic resonance spectroscopy.
Braissant, O., Henry, H.
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Long-term outcome of patients with urea cycle disorders and the question of neonatal screening [PDF]
, 2018 With regard to the principles established for neonatal population screening, the question arises whether for patients with urea cycle disorders there is an accepted treatment which really affects the disease course and prognosis as compared to the ...
Bachmann, Claude
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