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

Genetics in Medicine

Volumn 13, Issue 3, 2011, Pages 230-254

  McHugh, David M S ^a   Cameron, Cynthia A ^b   Abdenur, Jose E ^c   Abdulrahman, Mahera ^d   Adair, Ona ^e   Al Nuaimi, Shahira Ahmed ^d   Åhlman, Henrik ^f   Allen, Jennifer J ^g   Antonozzi, Italo ^h   Archer, Shaina ⁱ   Au, Sylvia ^j   Auray Blais, Christiane ^k   Baker, Mei ^l   Bamforth, Fiona ⁱ   Beckmann, Kinga ^m   Pino, Gessi Bentz ^a   Berberich, Stanton L ⁿ   Binard, Robert ^o   Boemer, François ^p   Bonham, Jim ^q   Breen, Nancy N ^r   Bryant, Sandra C ^a   Caggana, Michele ^s   Caldwell, S Graham ^t   Camilot, Marta ^u   Campbell, Carlene ^v   Carducci, Claudia ^h   Cariappa, Rohit ^w   Carlisle, Clover ^x   Caruso, Ubaldo ^y   Cassanello, Michela ^y   Castilla, Ane Miren ^z   Ramos, Daisy E Castiñeiras ^aa   Chakraborty, Pranesh ^ab   Chandrasekar, Ram ^ac   Ramos, Alfredo Chardon ^ad   Cheillan, David ^ae   Chien, Yin Hsiu ^af   Childs, Thomas A ^ag   Chrastina, Petr ^ah   Sica, Yuri Cleverthon ^ai   Cocho De Juan, Jose Angel ^aa   Colandre, Maria Elena ^aj   Espinoza, Veronica Cornejo ^ak   Corso, Gaetano ^al   Currier, Robert ^am   Cyr, Denis ^k   Czuczy, Noemi ^an   D'Apolito, Oceania ^al   Davis, Tim ^ao   De Sain Van Der Velden, Monique G ^ap   Pecellin, Carmen Delgado ^aq   Di Gangi, Iole Maria ^ar   Di Stefano, Cristina Maria ^as   Dotsikas, Yannis ^at   Downing, Melanie ^q   Downs, Stephen M ^au   Dy, Bonifacio ^av   Dymerski, Mark ^aw   Rueda, Inmaculada ^ax   Elvers, Bert ^ay   Eaton, Roger ^az   Eckerd, Barbara M ^ba   El Mougy, Fatma ^bb   Eroh, Sarah ^bc   Espada, Mercedes ^z   Evans, Catherine ^bd   Fawbush, Sandy ^be   Fijolek, Kristel F ^ba   Fisher, Lawrence ^ab   Franzson, Leifur ^bf   Frazier, Dianne M ^bg   Garcia, Luciana R C ^bh   Bermejo, Maria Sierra García Valdecasas ^aq   Gavrilov, Dimitar ^a   Gerace, Rosemarie ^bi   Giordano, Giuseppe ^ar   Irazabal, Yolanda González ^bj   Greed, Lawrence C ^bk   Grier, Robert ^bl   Grycki, Elyse ^a   Gu, Xuefan ^bm   Gulamali Majid, Fizza ^bn   Hagar, Arthur F ^bo   Han, Lianshu ^bm   Hannon, W Harry ^bp   Haslip, Christa ^bq   Hassan, Fayza Abdelhamid ^bb   He, Miao ^br   Hietala, Amy ^bs   Himstedt, Leslie ^bc   Hoffman, Gary L ^m   Hoffman, William ^ao   Hoggatt, Philis ^bt   Hopkins, Patrick V ^v   Hougaard, David M ^bu   Hughes, Kerie ^b   Hunt, Patricia R ^bv   Hwu, Wuh Liang ^af   Hynes, June ^bw   Ibarra González, Isabel ^bx   Ingham, Cindy A ^by   Ivanova, Maria ^bz   Jacox, Ward B ^ca   John, Catharine ^cb   Johnson, John P ^cc   Jónsson, Jón J ^bf   Karg, Eszter ^cd   Kasper, David ^ce   Klopper, Brenda ^cf   Katakouzinos, Dimitris ^cg   Khneisser, Issam ^ch   Knoll, Detlef ^ci   Kobayashi, Hirinori ^cj   Koneski, Ronald ^bv   Kožich, Viktor ^ah   Kouapei, Rasoul ^ck   Kohlmueller, Dirk ^cl   Kremensky, Ivo ^bz   La Marca, Giancarlo ^cm   Lavochkin, Marcia ^cn   Lee, Soo Youn ^co   Lehotay, Denis C ^cp   Lemes, Aida ^cq   Lepage, Joyce ^cp   Lesko, Barbara ^r   Lewis, Barry ^bk   Lim, Carol ^cr   Linard, Sharon ^ac   Lindner, Martin ^cl   Lloyd Puryear, Michele A ^cs   Lorey, Fred ^am   Loukas, Yannis L ^at   Luedtke, Julie ^ct   Maffitt, Neil ^a   Magee, J Fergall ^ck   Manning, Adrienne ^cu   Manos, Shawn ^cv   Marie, Sandrine ^cw   Hadachi, Sônia Marchezi ^bh   Marquardt, Gregg ^a   Martin, Stephen J ^bd   Matern, Dietrich ^a   Gibson, Stephanie K Mayfield ^be   Mayne, Philip ^cx   McCallister, Tonya D ^g   McCann, Mark ^bs   McClure, Julie ^bg   McGill, James J ^cy   McKeever, Christine D ^ag   McNeilly, Barbara ^cz   Morrissey, Mark A ^s   Moutsatsou, Paraskevi ^da   Mulcahy, Eleanor A ^db   Nikoloudis, Dimitris ^dc   Norgaard Pedersen, Bent ^bu   Oglesbee, Devin ^a   Oltarzewski, Mariusz ^dd   Ombrone, Daniela ^de   Ojodu, Jelili ^df   Papakonstantinou, Vagelis ^cg   Reoyo, Sherly Pardo ^ad   Park, Hyung Doo ^co   Pasquali, Marzia ^dg   Pasquini, Elisabetta ^cm   Patel, Pallavi ^dh   Pass, Kenneth A ^di   Peterson, Colleen ^cv   Pettersen, Rolf D ^dj   Pitt, James J ^dk   Poh, Sherry ^cb   Pollak, Arnold ^ce   Porter, Cory ^aw   Poston, Philip A ^dl   Price, Ricky W ^dm   Queijo, Cecilia ^cq   Quesada, Jonessy ^dn   Randell, Edward ^bw   Ranieri, Enzo ^bi   Raymond, Kimiyo ^a   Reddic, John E ^t   Reuben, Alejandra ^dn   Ricciardi, Charla ^do   Rinaldo, Piero ^a   Rivera, Jeff D ^dp   Roberts, Alicia ^dq   Rocha, Hugo ^dr   Roche, Geraldine ^cx   Greenberg, Cheryl Rochman ^ds   Mellado, José María Egea ^dt   Juan Fita, María Jesús ^dt   Ruiz, Consuelo ^du   Ruoppolo, Margherita ^de   Rutledge, S Lane ^dq   Ryu, Euijung ^a   Saban, Christine ^ae   Sahai, Inderneel ^az   García Blanco, Maria Isabel Salazar ^bj   Santiago Borrero, Pedro ^ad   Schenone, Andrea ^aj   Schoos, Roland ^p   Schweitzer, Barb ^dv   Scott, Patricia ^x   Seashore, Margretta R ^dw   Seeterlin, Mary A ^dx   Sesser, David E ^dy   Sevier, Darrin W ^be   Shone, Scott M ^dh   Sinclair, Graham ^dz   Skrinska, Victor A ^ea   Stanley, Eleanor L ^dx   Strovel, Erin T ^eb   Jones, April L Studinski ^a   Sunny, Sherlykutty ^s   Takats, Zoltan ^an   Tanyalcin, Tijen ^ec   Teofoli, Francesca ^u   Thompson, J Robert ^ds   Tomashitis, Kathy ^t   Domingos, Mouseline Torquado ^ai   Torres, Jasmin ^av   Torres, Rosario ^du   Tortorelli, Silvia ^a   Turi, Sandor ^cd   Turner, Kimberley ^ed   Tzanakos, Nick ^dk   Valiente, Alf G ^ak   Vallance, Hillary ^dz   Vela Amieva, Marcela ^ee   Vilarinho, Laura ^dr   Von Döbeln, Ulrika ^f   Vincent, Marie Francoise ^cw   Vorster, B Chris ^cf   Watson, Michael S ^ef   Webster, Dianne ^ci   Weiss, Sheila ^ao   Wilcken, Bridget ^cr   Wiley, Veronica ^cr   Williams, Sharon K ^eg   Willis, Sharon A ^dy   Woontner, Michael ^o   Wright, Katherine ^eh   Yahyaoui, Raquel ^ax   Yamaguchi, Seiji ^cj   Yssel, Melissa ^ei   Zakowicz, Wendy M ^ca   more..

^a Mayo Clinic   (United States)

^b Michigan Public Health Institute   (United States)

^c CHILDREN S HOSPITAL OF ORANGE COUNTY   (United States)

^d Box 7272   (United Arab Emirates)

^e PENNSYLVANIA DEPARTMENT OF HEALTH   (United States)

^f KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^g OKLAHOMA STATE DEPARTMENT OF HEALTH   (United States)

^h SAPIENZA UNIVERSITY OF ROME   (Italy)

ⁱ ALBERTA HEALTH SERVICES   (Canada)

^j HAWAII STATE DEPARTMENT OF HEALTH   (United States)

^k UNIVERSITÉ DE SHERBROOKE   (Canada)

^l WISCONSIN STATE LABORATORY OF HYGIENE   (United States)

^m Screeningzentrum Hessen   (Germany)

ⁿ UNIVERSITY OF IOWA   (United States)

^o UNIVERSITY OF COLORADO   (United States)

^p UNIVERSITY OF LIÈGE   (Belgium)

^q SHEFFIELD CHILDREN'S NHS FOUNDATION TRUST   (United Kingdom)

^r Indiana Newborn Screening Laboratory   (United States)

^s NEW YORK STATE DEPARTMENT OF HEALTH   (United States)

^t SOUTH CAROLINA DEPARTMENT OF HEALTH AND ENVIRONMENTAL CONTROL   (United States)

^u UNIVERSITY HOSPITAL OF VERONA   (Italy)

^v Missouri Public Health Laboratory   (United States)

^w NeoGen Labs   (India)

^x Delaware Public Health Laboratory   (United States)

^y G GASLINI INSTITUTE   (Italy)

^z Basque Government   (Spain)

^aa Instituto de Salud Carlos III   (Spain)

^ab CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^ac OHIO DEPARTMENT OF HEALTH   (United States)

^ad Puerto Rico Newborn Screening Program   (Puerto Rico)

^ae HOSPICES CIVILS DE LYON   (France)

^af NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

^ag Tennessee Department   (United States)

^ah CHARLES UNIVERSITY   (Czech Republic)

^ai Centro de Pesquisas   (Brazil)

^aj Fundación para el Estudio de Las Enfermedades Neurometabó licas FESEN Laboratorio de Neuroquímica Dr N A Chamoles   (Argentina)

^ak UNIVERSITY OF CHILE   (Chile)

^al UNIVERSITY OF FOGGIA   (Italy)

^am California Department of Public Health   (United States)

^an SEMMELWEIS UNIVERSITY   (Hungary)

^ao WASHINGTON STATE DEPARTMENT OF HEALTH   (United States)

^ap UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^aq HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^ar UNIVERSITY OF PADOVA   (Italy)

^as Ospedale di Nocera Inferiore   (Italy)

^at UNIVERSITY OF ATHENS   (Greece)

^au INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^av Florida Newborn Screening Program   (United States)

^aw Colorado Department of Public Health and Environment ^*  (United States)

^ax HOSPITAL REGIONAL UNIVERSITARIO DE MÁLAGA   (Spain)

^ay NATIONAL INSTITUTE FOR PUBLIC HEALTH AND THE ENVIRONMENT   (Netherlands)

^az New England Newborn Screening Program   (United States)

^ba West Virginia Department of Health and Human Resources   (United States)

^bb CAIRO UNIVERSITY   (Egypt)

^bc ARKANSAS DEPARTMENT OF HEALTH   (United States)

^bd Louisiana Office of Public Health   (United States)

^be Kentucky Department for Public Health   (United States)

^bf UNIVERSITY OF ICELAND   (Iceland)

^bg UNIVERSITY OF NORTH CAROLINA   (United States)

^bh Associacao de Pais e Amigos dos Excepcionais de Sao Paulo   (Brazil)

^bi WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^bj HOSPITAL UNIVERSITARIO MIGUEL SERVET   (Spain)

^bk PRINCESS MARGARET HOSPITAL FOR CHILDREN   (Australia)

^bl WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^bm SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^bn Department of Health and Mental Hygiene ^*  (United States)

^bo Georgia Department   (United States)

^bp CENTERS FOR DISEASE CONTROL AND PREVENTION   (United States)

^bq ARUP LABORATORIES   (United States)

^br EMORY UNIVERSITY   (United States)

^bs MINNESOTA DEPARTMENT OF HEALTH   (United States)

^bt MISSISSIPPI STATE DEPARTMENT OF HEALTH   (United States)

^bu STATENS SERUM INSTITUT   (Denmark)

^bv TEXAS DEPARTMENT OF STATE HEALTH SERVICES   (United States)

^bw MEMORIAL UNIVERSITY OF NEWFOUNDLAND   (Canada)

^bx INSTITUTO DE INVESTIGACIONES BIOMÉDICAS   (Mexico)

^by VERMONT DEPARTMENT OF HEALTH   (United States)

^bz University Hospital of Obstetrics and Gynecology 'Maichin Dom' Bulgaria   (Bulgaria)

^ca ARIZONA DEPARTMENT OF HEALTH SERVICES   (United States)

^cb KK WOMEN'S AND CHILDREN'S HOSPITAL   (Singapore)

^cc Shodair Children's Hospital   (United States)

^cd UNIVERSITY OF SZEGED   (Hungary)

^ce MEDICAL UNIVERSITY OF VIENNA   (Austria)

^cf NORTH WEST UNIVERSITY   (South Africa)

^cg NeoLab SA   (Greece)

^ch SAINT JOSEPH UNIVERSITY   (Lebanon)

^ci AUCKLAND CITY HOSPITAL   (New Zealand)

^cj SHIMANE UNIVERSITY FACULTY OF MEDICINE   (Japan)

^ck IWK HEALTH CENTRE   (Canada)

^cl UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^cm UNIVERSITY OF FLORENCE   (Italy)

^cn NEW HAMPSHIRE DEPARTMENT OF HEALTH AND HUMAN SERVICES   (United States)

^co Sungkyunkwan University School of Medicine   (South Korea)

^cp UNIVERSITY OF SASKATCHEWAN   (Canada)

^cq Instituto de Seguridad Social   (Uruguay)

^cr CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^cs Health Resource Research Administration   (United States)

^ct Nebraska Department of Health and Human Services   (United States)

^cu Public Health Laboratory ^*  (United States)

^cv Kansas Health and Environmental Laboratories   (United States)

^cw CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^cx CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

^cy ROYAL CHILDREN'S HOSPITAL   (Australia)

^cz RHODE ISLAND DEPARTMENT OF HEALTH   (United States)

^da UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

^db Maine Department of Health and Human Services   (United States)

^dc Biomedicine SA   (Greece)

^dd INSTITUTE OF MOTHER AND CHILD   (Poland)

^de UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^df Association of Public Health Laboratories   (United States)

^dg UNIVERSITY OF UTAH   (United States)

^dh NEW JERSEY DEPARTMENT OF HEALTH AND SENIOR SERVICES   (United States)

^di International Society of Newborn Screening   (United States)

^dj OSLO UNIVERSITY HOSPITAL   (Norway)

^dk MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^dl Virginia Division   (Australia)

^dm Pathology Queensland   (Australia)

^dn HOSPITAL NACIONAL DE NIÑOS   (Costa Rica)

^do Wyoming Department of Health   (United States)

^dp MDS SCIEX   (Canada)

^dq UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^dr NATIONAL INSTITUTE OF HEALTH   (Portugal)

^ds CADHAM PROVINCIAL LABORATORY   (Canada)

^dt HOSPITAL UNIVERSITARIO VIRGEN DE LA ARRIXACA   (Spain)

^du Center for Research and Development in Health Sciences (CIDICS)   (Mexico)

^dv North Dakota Department of Health   (United States)

^dw YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^dx MICHIGAN DEPARTMENT OF COMMUNITY HEALTH   (United States)

^dy Oregon State Public Health Laboratory   (United States)

^dz CHILDREN S AND WOMEN S HEALTH CENTRE OF BRITISH COLUMBIA   (Canada)

^ea HAMAD MEDICAL CORPORATION   (Qatar)

^eb UNIVERSITY OF MARYLAND SCHOOL OF MEDICINE   (United States)

^ec Tanyalcin Medical Lab Selective Newborn Screening   (Turkey)

^ed UNIVERSITY OF IOWA CHILDREN S HOSPITAL   (United States)

^ee INSTITUTO NACIONAL DE PEDIATRÍA   (Mexico)

^ef American College of Medical Genetics   (United States)

^eg VIRGINIA DEPARTMENT OF HEALTH   (United States)

^eh ALDER HEY CHILDREN'S NHS FOUNDATION TRUST   (United Kingdom)

^ei LANCET LABORATORIES   (South Africa)

more..

Author keywords

Acylcarnitines; amino acids; inborn errors of metabolism; newborn screening; tandem mass spectrometry

Indexed keywords

ACETYLCARNITINE; ACYLCARNITINE; ALANINE; AMINO ACID; ARGININE; ARGININOSUCCINIC ACID; CITRULLINE; DECADIENOYLCARNITINE; DECENOYLCARNITINE; DODECENOYLCARNITINE; GLUTAMIC ACID; GLUTAMINE; GLYCINE; HEXANOYLCARNITINE; HYDROXY BUTYRYLCARNITINE; HYDROXY OLEYLCARNITINE; HYDROXY STEARYLCARNITINE; ISOLEUCINE; LEUCINE; METHIONINE; MYRISTOYLCARNITINE; PHENYLALANINE; PROPIONYLCARNITINE; STEARYLCARNITINE; SUCCINYLACETONE; TETRADECADIENOYLCARNITINE; TETRADECENOYLCARNITINE; TYROSINE; UNCLASSIFIED DRUG; UNINDEXED DRUG; VALINE;

2 METHYL 3 HYDROXYBUTYRYL COA DEHYDROGENASE DEFICIENCY; 2,4 DIENOYL COA REDUCTASE DEFICIENCY; ARGININOSUCCINIC ACIDEMIA; ARTICLE; BETA KETOTHIOLASE DEFICIENCY; BIOTINIDASE DEFICIENCY; BUTYRYL COENZYME A DEHYDROGENASE DEFICIENCY; CARBAMYLPHOSPHATE SYNTHASE DEFICIENCY; CARNITINE ACYLCARNITINE TRANSLOCASE DEFICIENCY; CARNITINE PALMITOYLTRANSFERASE 1A DEFICIENCY; CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY; CHILDHOOD ADRENOLEUKODYSTROPHY; CITRULLINEMIA TYPE II; COMPUTER PROGRAM; CONGENITAL ADRENAL HYPERPLASIA; CONGENITAL HYPOTHYROIDISM; CYANOCOBALAMIN DEFICIENCY; DISORDERS OF CARBOHYDRATE METABOLISM; ETHYLMALONIC ENCEPHALOPATHY; FATTY ACID OXIDATION DISORDER; FORMIMINOGLUTAMIC ACIDEMIA; HOMOCYSTINURIA; HUMAN; HYDROXYMETHYLGLUTARYL COENZYME A LYASE DEFICIENCY; HYPERARGININEMIA; HYPERGLYCINEMIA; HYPERMETHIONINEMIA; HYPERPHENYLALANINEMIA; INBORN ERROR OF METABOLISM; ISOBUTYRYL COA DEHYDROGENASE DEFICIENCY; ISOVALERYL COA DEHYDROGENASE DEFICIENCY; LYSOSOME STORAGE DISEASE; MAJOR CLINICAL STUDY; MALONYL COA DECARBOXYLASE DEFICIENCY; MAPLE SYRUP URINE DISEASE; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY; MEDIUM CHAIN KETOACYL COA THIOLASE DEFICIENCY; METHYLENE TETRAHYDROFOLATE REDUCTASE DEFICIENCY; METHYLMALONIC ACIDEMIA; MULTIPLE ACYL COA DEHYDROGENASE DEFICIENCY; NEWBORN; NEWBORN SCREENING; NORMAL VALUE; ORNITHINE TRANSCARBAMYLASE DEFICIENCY; PHENYLKETONURIA; PROPIONIC ACIDEMIA; PYRUVATE CARBOXYLASE DEFICIENCY; SENSITIVITY AND SPECIFICITY; TANDEM MASS SPECTROMETRY; TRANSIENT TYROSINEMIA; TRIFUNCTIONAL PROTEIN DEFICIENCY; TYROSINEMIA; VERY LONG CHAIN ACYL COA DEHYDROGENASE DEFICIENCY;

AMINO ACIDS; CARNITINE; HUMANS; INFANT, NEWBORN; INTERNATIONAL COOPERATION; METABOLIC DISEASES; NEONATAL SCREENING; REFERENCE VALUES; SENSITIVITY AND SPECIFICITY; SOFTWARE; TANDEM MASS SPECTROMETRY;

EID: 79952194543     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e31820d5e67     Document Type: Article

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