Results 81 to 90 of about 2,863,419 (210)

Clinical biological and genetic heterogeneity of the inborn errors of pulmonary surfactant metabolism [PDF]

, 2001
Pulmonary surfactant is a multimolecular complex located at the air-water interface within the alveolus to which a range of physical (surface-active properties) and immune functions has been assigned. This complex consists of a surface-active lipid layer
Griese, Matthias, de Blic, Jacques, Bahuau, Michael, Tredano, Mohammed, Fournet, Jean-Christophe, Elion, Jacques   +5 more
core   +1 more source

Glucose-6-phosphate-dehydrogenase deficiency as a risk factor in proliferative disorder development [PDF]

, 2009
Glucose-6-phosphate dehydrogenase (G6PD) is an important site of metabolic control in the pentose phosphate pathway (PPP) which provides reducing power (NADPH) and pentose phosphates.
Claudia Abete, Sandra Dessì, Enrico Peiretti, Pierluigi Cocco, Fabrizio Angius, Giacomo Diaz, Maurizio Fossarello, Alessandra Pani, Antonella Mandas, Claudia Norfo   +9 more
core  

Rapid gas chromatographic-mass spectrometric diagnosis of dihydropyrimidine dehydrogenase deficiency and dihydropyrimidinase deficiency

, 2003
A rapid yet reliable chemical diagnosis for dihydropyrimidine dehydrogenase (DHPD) deficiency, and possibly dihydropyrimidinase (DHP) deficiency in cancer patients, prior to therapy with pyrimidine analogues such as 5-fluorouracil, is desired for ...
Ito, Tetsuya, Kuhara, Tomiko, Wada, Yoshiro, Ohdoi, Chie, van Kuilenburg, André B. P., Ohse, Morimasa, van Gennip, Albert H., Sumi, Satoshi, Matsumoto, Isamu   +8 more
core   +1 more source

Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency

, 2018
Short-chain enoyl-CoA hydratase (SCEH or ECHS1) deficiency is a rare inborn error of metabolism caused by biallelic mutations in the gene ECHS1 (OMIM 602292). Clinical presentation includes infantile-onset severe developmental delay, regression, seizures,
Geraghty, Michael T., Waterham, Hans R., Sheikh, Yusra, Wanders, Ronald J. A., Twomey, Eilish, Taylor, Robert W., Ferdinandusse, Sacha, Walsh, Richard, Mayne, Philip D., Hughes, Joanne, Tetreault, Martine, O'Reilly, Peter, Bonnen, Penelope E., Fitzsimons, Patricia E., Crushell, Ellen, Pitt, James J., Alston, Charlotte L.   +16 more
core   +1 more source

Inverse relationship between genetic diversity and epigenetic complexity [PDF]

, 2008
Early studies of molecular evolution revealed a correlation between genetic distance and time of species divergence. This observation provoked the molecular clock hypothesis and in turn the ‘Neutral Theory’, which however remains an ...
Shi Huang
core   +1 more source

Diagnosing alpha-1 antitrypsin deficiency: the first step in precision medicine [version 1; referees: 3 approved]

F1000Research, 2017
Severe alpha-1 antitrypsin (AAT) deficiency is one of the most common serious genetic diseases in adults of European descent. Individuals with AAT deficiency have a greatly increased risk for emphysema and liver disease.
Craig P. Hersh
doaj   +1 more source

A new direction for farm animal genetic resources [PDF]

, 2009
In September 2007, the International Technical Conference on Animal Genetic Resources for Food and Agriculture was held in Interlaken, Switzerland. Two important documents aiming at preventing the genetic erosion of farm animal biodiversity and promoting
Kantanen, Juha
core  

A challenging diagnosis of alpha-1-antitrypsin deficiency: identification of a patient with a novel F/Null phenotype

Allergy, Asthma & Clinical Immunology, 2011
Alpha-1-antitrypsin (A1AT) deficiency is a genetic disease characterized by low levels and/or function of A1AT protein. A1AT deficiency can result in the development of COPD, liver disease, and certain skin conditions.
Ringenbach Michael R, Banta Erin, Snyder Melissa R, Craig Timothy J, Ishmael Faoud T   +4 more
doaj   +1 more source

Proximal femoral focal deficiency : a case report [PDF]

, 2008
Proximal Femoral Focal Deficiency (PFFD) is a rare and complex congenital anomaly (1:50,000-200,000 population) that results in varying degrees of femoral hypoplasia with limb shortening and pelvic abnormalities.
Ellul, Marthese, Grixti, Charles J., Chircop, Marcelle, Grech, Victor E.   +3 more
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Global, regional and national burden of dietary iron deficiency from 1990 to 2021: a Global Burden of Disease study

Although iron deficiency is well documented, less is known about dietary involvement in symptomatic iron deficiency manifesting in medical conditions. In this study, we quantified the global burden of dietary iron deficiency, focusing on where inadequate
Adegboye, Oyelola A., Lee, Sooji, Addo, Isaac Yeboah, Abate, Semagn Mekonnen, Abate, Yohannes Habtegiorgis, Abie, Alemwork, Abukhadijah, Hana J., Adzigbli, Leticia Akua, Abouzid, Mohamed, Agyemang-Duah, Williams, Kim, Min Seo, Abualruz, Hasan, Ahmad, Aqeel, Abdullahi, Auwal, ElHafeez, Samar Abd, Abiodun, Olumide, Aburuz, Salahdein, Abebe, Mesfin, Ahmed, Syed Anees, Abdulkader, Rizwan Suliankatchi, Adnani, Qorinah Estiningtyas Sakilah, Son, Yejun, Fischer, Florian, Abedi, Armita, Adamu, Lawan Hassan, Abu-Zaid, Ahmed, Akinosoglou, Karolina, Agampodi, Suneth Buddhika, Abd-Elsalam, Sherief, Ahmad, Muayyad M., Abreu, Lucas Guimarães, Yon, Dong Keon, Aboagye, Richard Gyan, Shin, Jae Il, Ahmed, Ali, Akter, Ema, Abolhassani, Hassan, Hwang, Jiyoung, Abdoun, Meriem, Adane, Mesafint Molla, Ahmad, Shahzaib, Ahmad, Tauseef, Ahmed, Mehrunnisha Sharif, Ajami, Marjan, Adetunji, Charles Oluwaseun, Adekanmbi, Victor, Afzal, Saira, Ahmed, Haroon, Adeyeoluwa, Temitayo Esther, Ahmed, Ayman   +49 more
core   +3 more sources