The role of ERNDIM diagnostic proficiency schemes in improving the quality of diagnostic testing for inherited metabolic diseases

Authors: Mathis, Déborah, Croft, Joanne, Chrastina, Petr, Fowler, Brian, Vianey‐Saban, Christine, Ruijter, George J. G.

Source: Journal of inherited metabolic disease. 45(5):926-936

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100165426252.0x000001&indx=1&recIds=ETOCvdc_100165426252.0x000001

Tandem mass spectrometry of globotriaosylceramide: quantification in plasma and urine for diagnosis and therapy monitoring in Fabry disease

Authors: Chrastina, Petr, Martincová, O., Berná, L., Ledvinová, Jana

Contributors: Chrastina, Petr, Martincová, O., Berná, L., Ledvinová, Jana , 1943-

Source: Klinická biochemie a metabolismus : časopis České společnosti klinické biochemie | 2007 Volume:15 | Number:3

Availability: http://data.europeana.eu/aggregation/europeana/336/uuid_bmc08002596_f4e5b1f8_2a76_41fe_a104_a7cdd114d427

Extremely low birthweight neonates with phenylketonuria require special dietary management

Authors: Zemanova, Marketa, Chrastina, Petr, Sebron, Vaclav, Prochazkova, Dagmar, Jahnova, Helena, Sanakova, Petra, Prochazkova, Lucie, Tesarova, Barbara, Zeman, Jiri

Source: Acta pædiatrica. 110(11):2994-2999

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100132330721.0x000001&indx=1&recIds=ETOCvdc_100132330721.0x000001

X-linked adrenoleukodystrophy: phenotype-genotype correlation in hemizygous males and heterozygous females with ABCD1 mutations

Authors: Zemanova, Marketa, Chrastina, Petr, Dvorakova, Lenka, Reboun, Martin, Vlaskova, Hana, Jahnova, Helena, El-Lababidi, Nabil, Cepova, Jana, Honzik, Tomas, Zeman, Jiri

Source: Neuro endocrinology letters. 42(5):359-367

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN627487215&indx=1&recIds=ETOCRN627487215

Newborn screening for homocystinurias: Recent recommendations versus current practice

Authors: Keller, Rebecca, Chrastina, Petr, Pavlíková, Markéta, Gouveia, Sofía, Ribes, Antonia, Kölker, Stefan, Blom, Henk J., Baumgartner, Matthias R., Bártl, Josef, Dionisi‐Vici, Carlo, Gleich, Florian, Morris, Andrew A., Kožich, Viktor, Huemer, Martina, Barić, Ivo, Ben‐Omran, Tawfeq, Blasco‐Alonso, Javier, Bueno Delgado, Maria A., Carducci, Claudia, Cassanello, Michela, Cerone, Roberto, Couce, Maria Luz, Crushell, Ellen, Delgado Pecellin, Carmen, Dulin, Elena, Espada, Mercedes, Ferino, Giulio, Fingerhut, Ralph, Garcia Jimenez, Immaculada, Gonzalez Gallego, Immaculada, González‐Irazabal, Yolanda, Gramer, Gwendolyn, Juan Fita, Maria Jesus, Karg, Eszter, Klein, Jeanette, Konstantopoulou, Vassiliki, la Marca, Giancarlo, Leão Teles, Elisa, Leuzzi, Vincenzo, Lilliu, Franco, Lopez, Rosa Maria, Lund, Allan M., Mayne, Philip, Meavilla, Silvia, Moat, Stuart J., Okun, Jürgen G., Pasquini, Elisabeta, Pedron‐Giner, Consuélo Carmen, Racz, Gabor Zoltan, Ruiz Gomez, Maria Angeles, Vilarinho, Laura, Yahyaoui, Raquel, Zerjav Tansek, Moja, Zetterström, Rolf H., Zeyda, Maximilian

Source: Journal of inherited metabolic disease. 42(1):128-139

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100087697002.0x000001&indx=1&recIds=ETOCvdc_100087697002.0x000001

Epidemiology of rare diseases detected by newborn screening in the Czech Republic

Authors: David, Jan, Chrastina, Petr, Pešková, Karolina, Kožich, Viktor, Friedecký, David, Adam, Tomáš, Hlídková, Eva, Vinohradská, Hana, Novotná, Dana, Hedelová, Monika

Source: Central European journal of public health. 27(2):153-159

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN620856070&indx=1&recIds=ETOCRN620856070

Neonatal screening in the Czech Republic: increased prevalence of selected diseases in low birthweight neonates

Authors: David, Jan, Chrastina, Petr, Vinohradska, Hana, Al Taji, Eva, Holubova, Andrea, Hlidkova, Eva, Kozich, Viktor, Votava, Felix

Source: European journal of pediatrics. 177(11):1697-1704

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100125956775.0x000001&indx=1&recIds=ETOCvdc_100125956775.0x000001

Simultaneous determination of cystathionine, total homocysteine, and methionine in dried blood spots by liquid chromatography/tandem mass spectrometry and its utility for the management of patients with homocystinuria

Authors: Bártl, Josef, Chrastina, Petr, Krijt, Jakub, Hodík, Jakub, Pešková, Karolína, Kožich, Viktor

Source: In Clinica Chimica Acta 1 November 2014 437:211-217

Carnitine supplementation alleviates lipid metabolism derangements and protects against oxidative stress in non-obese hereditary hypertriglyceridemic rats

Authors: Cahova, Monika, Chrastina, Petr, Hansikova, Hana, Drahota, Zdenek, Trnovska, Jaroslava, Skop, Vojtech, Spacilova, Jana, Malinska, Hana, Oliyarnyk, Olena, Papackova, Zuzana

Source: Applied physiology, nutrition, and metabolism. 40(3):280-291

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN600745668&indx=1&recIds=ETOCRN600745668

Acylcarnitines' Level in the Dried Blood Spot Samples of Healthy Newborns in Serbia-The Pilot Study.

Authors: Beletic, Andjelo, Tijanic, Aleksandra, Nikolic, Tatjana, Chrastina, Petr, Stefanovic, Aleksandar, Stankovic, Sanja

Source: Experimental & Applied Biomedical Research; Sep2023, Vol. 24 Issue 3, p193-198, 6p

Subject Terms: BLOOD, FATTY acid oxidation, NEWBORN infants, TANDEM mass spectrometry, CARNITINE palmitoyltransferase, FATTY acid analysis, PROTEIN deficiency, BLOOD sampling

Geographic Terms: ALBANIA (Ancient kingdom), SERBIA

Enhanced interpretation of newborn screening results without analyte cutoff values

Authors: Marquardt, Gregg, Currier, Robert, McHugh, David M.S., Gavrilov, Dimitar, Magera, Mark J., Matern, Dietrich, Oglesbee, Devin, Raymond, Kimiyo, Rinaldo, Piero, Smith, Emily H., Tortorelli, Silvia, Turgeon, Coleman T., Lorey, Fred, Wilcken, Bridget, Wiley, Veronica, Greed, Lawrence C., Lewis, Barry, Boemer, François, Schoos, Roland, Marie, Sandrine, Vincent, Marie-Françoise, Sica, Yuri Cleverthon, Domingos, Mouseline Torquado, Al-Thihli, Khalid, Sinclair, Graham, Al-Dirbashi, Osama Y., Chakraborty, Pranesh, Dymerski, Mark, Porter, Cory, Manning, Adrienne, Seashore, Margretta R., Quesada, Jonessy, Reuben, Alejandra, Chrastina, Petr, Hornik, Petr, Mandour, Iman Atef, Sharaf, Sahar Abdel Atty, Bodamer, Olaf, Dy, Bonifacio, Torres, Jasmin, Zori, Roberto, Cheillan, David, Vianey-Saban, Christine, Ludvigson, David, Stembridge, Adrya, Bonham, Jim, Downing, Melanie, Dotsikas, Yannis, Loukas, Yannis L., Papakonstantinou, Vagelis, Zacharioudakis, Georgios S.A., Baráth, Ákos, Karg, Eszter, Franzson, Leifur, Jonsson, Jon J., Breen, Nancy N., Lesko, Barbara G., Berberich, Stanton L., Turner, Kimberley, Ruoppolo, Margherita, Scolamiero, Emanuela, Antonozzi, Italo, Carducci, Claudia, Caruso, Ubaldo, Cassanello, Michela, Marca, Giancarlo la, Pasquini, Elisabetta, Di Gangi, Iole Maria, Giordano, Giuseppe, Camilot, Marta, Teofoli, Francesca, Manos, Shawn M., Peterson, Colleen K., Mayfield Gibson, Stephanie K., Sevier, Darrin W., Lee, Soo-Youn, Park, Hyung-Doo, Khneisser, Issam, Browning, Phaidra, Gulamali-Majid, Fizza, Watson, Michael S., Eaton, Roger B., Sahai, Inderneel, Ruiz, Consuelo, Torres, Rosario, Seeterlin, Mary A., Stanley, Eleanor L., Hietala, Amy, McCann, Mark, Campbell, Carlene, Hopkins, Patrick V., de Sain–Van der Velden, Monique G., Elvers, Bert, Morrissey, Mark A., Sunny, Sherlykutty, Knoll, Detlef, Webster, Dianne, Frazier, Dianne M., McClure, Julie D., Sesser, David E., Willis, Sharon A., Rocha, Hugo, Vilarinho, Laura, John, Catharine, Lim, James, Caldwell, S. Graham, Tomashitis, Kathy, Castiñeiras Ramos, Daisy E., de Juan, Jose Angel Cocho, Fernández, Inmaculada Rueda, Macías, Raquel Yahyaoui, Egea-Mellado, José María, González-Gallego, Inmaculada, Pecellin, Carmen Delgado, Bermejo, Maria Sierra García-Valdecasas, Chien, Yin-Hsiu, Hwu, Wuh-Liang, Childs, Thomas, McKeever, Christine D., Tanyalcin, Tijen, Abdulrahman, Mahera, Queijo, Cecilia, Lemes, Aída, Davis, Tim, Hoffman, William, Baker, Mei, Hoffman, Gary L.

Source: In Genetics in Medicine July 2012 14(7):648-655

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

Authors: McHugh, David M.S., Cameron, Cynthia A., Abdenur, Jose E., Abdulrahman, Mahera, Adair, Ona, Al Nuaimi, Shahira Ahmed, Åhlman, Henrik, Allen, Jennifer J., Antonozzi, Italo, Archer, Shaina, Au, Sylvia, Auray-Blais, Christiane, Baker, Mei, Bamforth, Fiona, Beckmann, Kinga, Pino, Gessi Bentz, Berberich, Stanton L., Binard, Robert, Boemer, François, Bonham, Jim, Breen, Nancy N., Bryant, Sandra C., Caggana, Michele, Caldwell, S. Graham, Camilot, Marta, Campbell, Carlene, Carducci, Claudia, Cariappa, Rohit, Carlisle, Clover, Caruso, Ubaldo, Cassanello, Michela, Castilla, Ane Miren, Ramos, Daisy E Castiñeiras, Chakraborty, Pranesh, Chandrasekar, Ram, Ramos, Alfredo Chardon, Cheillan, David, Chien, Yin-Hsiu, Childs, Thomas A., Chrastina, Petr, Sica, Yuri Cleverthon, de Juan, Jose Angel Cocho, Colandre, Maria Elena, Espinoza, Veronica Cornejo, Corso, Gaetano, Currier, Robert, Cyr, Denis, Czuczy, Noemi, D'Apolito, Oceania, Davis, Tim, de Sain-Van der Velden, Monique G., De Pecellin, Carmen lgado, Di Gangi, Iole Maria, Di Stefano, Cristina Maria, Dotsikas, Yannis, Downing, Melanie, Downs, Stephen M., Dy, Bonifacio, Dymerski, Mark, Rueda, Inmaculada, Elvers, Bert, Eaton, Roger, Eckerd, Barbara M., El Mougy, Fatma, Eroh, Sarah, Espada, Mercedes, Evans, Catherine, Fawbush, Sandy, Fijolek, Kristel F., Fisher, Lawrence, Franzson, Leifur, Frazier, Dianne M., Garcia, Luciana R.C., Bermejo, Maria Sierra García-Valdecasas, Gavrilov, Dimitar, Gerace, Rosemarie, Giordano, Giuseppe, Irazabal, Yolanda González, Greed, Lawrence C., Grier, Robert, Grycki, Elyse, Gu, Xuefan, Gulamali-Majid, Fizza, Hagar, Arthur F., Han, Lianshu, Hannon, W. Harry, Haslip, Christa, Hassan, Fayza Abdelhamid, He, Miao, Hietala, Amy, Himstedt, Leslie, Hoffman, Gary L., Hoffman, William, Hoggatt, Philis, Hopkins, Patrick V., Hougaard, David M., Hughes, Kerie, Hunt, Patricia R., Hwu, Wuh-Liang, Hynes, June, Ibarra-González, Isabel, Ingham, Cindy A., Ivanova, Maria, Jacox, Ward B., John, Catharine, Johnson, John P., Jónsson, Jón j, Karg, Eszter, Kasper, David, Klopper, Brenda, Katakouzinos, Dimitris, Khneisser, Issam, Knoll, Detlef, Kobayashi, Hirinori, Koneski, Ronald, Kožich, Viktor, Kouapei, Rasoul, Kohlmueller, Dirk, Kremensky, Ivo, la Marca, Giancarlo, Lavochkin, Marcia, Lee, Soo-Youn, Lehotay, Denis C., Lemes, Aida, Lepage, Joyce, Lesko, Barbara, Lewis, Barry, Lim, Carol, Linard, Sharon, Lindner, Martin, Lloyd-Puryear, Michele A., Lorey, Fred, Loukas, Yannis L., Luedtke, Julie, Maffitt, Neil, Magee, J. Fergall, Manning, Adrienne, Manos, Shawn, Marie, Sandrine, Hadachi, Sônia Marchezi, Marquardt, Gregg, Martin, Stephen J., Matern, Dietrich, Gibson, Stephanie K. Mayfield, Mayne, Philip, McCallister, Tonya D., McCann, Mark, McClure, Julie, McGill, James J., McKeever, Christine D., McNeilly, Barbara, Morrissey, Mark A., Moutsatsou, Paraskevi, Mulcahy, Eleanor A., Nikoloudis, Dimitris, Norgaard-Pedersen, Bent, Oglesbee, Devin, Oltarzewski, Mariusz, Ombrone, Daniela, Ojodu, Jelili, Papakonstantinou, Vagelis, Reoyo, Sherly Pardo, Park, Hyung-Doo, Pasquali, Marzia, Pasquini, Elisabetta, Patel, Pallavi, Pass, Kenneth A., Peterson, Colleen, Pettersen, Rolf D., Pitt, James J., Poh, Sherry, Pollak, Arnold, Porter, Cory, Poston, Philip A., Price, Ricky W., Queijo, Cecilia, Quesada, Jonessy, Randell, Edward, Ranieri, Enzo, Raymond, Kimiyo, Reddic, John E., Reuben, Alejandra, Ricciardi, Charla, Rinaldo, Piero ^*, Rivera, Jeff D., Roberts, Alicia, Rocha, Hugo, Roche, Geraldine, Greenberg, Cheryl Rochman, Mellado, José María Egea, Juan-Fita, María Jesús, Ruiz, Consuelo, Ruoppolo, Margherita, Rutledge, S. Lane, Ryu, Euijung, Saban, Christine, Sahai, Inderneel, García-Blanco, Maria Isabel Salazar, Santiago-Borrero, Pedro, Schenone, Andrea, Schoos, Roland, Schweitzer, Barb, Scott, Patricia, Seashore, Margretta R., Seeterlin, Mary A., Sesser, David E., Sevier, Darrin W., Shone, Scott M., Sinclair, Graham, Skrinska, Victor A., Stanley, Eleanor L., Strovel, Erin T., Jones, April L Studinski, Sunny, Sherlykutty, Takats, Zoltan, Tanyalcin, Tijen, Teofoli, Francesca, Thompson, J. Robert, Tomashitis, Kathy, Domingos, Mouseline Torquado, Torres, Jasmin, Torres, Rosario, Tortorelli, Silvia, Turi, Sandor, Turner, Kimberley, Tzanakos, Nick, Valiente, Alf G., Vallance, Hillary, Vela-Amieva, Marcela, Vilarinho, Laura, von Döbeln, Ulrika, Vincent, Marie-Francoise, Vorster, B. Chris, Watson, Michael S., Webster, Dianne, Weiss, Sheila, Wilcken, Bridget, Wiley, Veronica, Williams, Sharon K., Willis, Sharon A., Woontner, Michael, Wright, Katherine, Yahyaoui, Raquel, Yamaguchi, Seiji, Yssel, Melissa, Zakowicz, Wendy M.

Source: In Genetics in Medicine March 2011 13(3):230-254

The markers of the organic acidemias and their ratios in healthy neonates in Serbian population.

Authors: Beletić, Anđelo, Tijanić, Aleksandra, Chrastina, Petr, Nikolić, Tatjana, Stefanović, Aleksandar, Stanković, Sanja

Source: Drug Metabolism & Personalized Therapy; Sep2022, Vol. 37 Issue 3, p271-275, 5p

Determination of creatinine in urine by tandem mass spectrometry

Authors: Hušková, Renata ^*, Chrastina, Petr, Adam, Tomáš, Schneiderka, Petr

Source: In Clinica Chimica Acta 2004 350(1):99-106

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Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency—A Retrospective Nationwide Study.

Authors: Rücklová, Kristina, Hrubá, Eva, Pavlíková, Markéta, Hanák, Petr, Farolfi, Martina, Chrastina, Petr, Vlášková, Hana, Kousal, Bohdan, Smolka, Vratislav, Foltenová, Hana, Adam, Tomáš, Friedecký, David, Ješina, Pavel, Zeman, Jiří, Kožich, Viktor, Honzík, Tomáš

Source: Nutrients; Sep2021, Vol. 13 Issue 9, p2925-2925, 1p

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