Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project
Journal
Genetics in Medicine
Journal Volume
13
Journal Issue
3
Pages
230-254
Date Issued
2011
Author(s)
McHugh D.M.S.
Cameron C.A.
Abdenur J.E.
Abdulrahman M.
Adair O.
Al Nuaimi S.A.
?hlman H.
Allen J.J.
Antonozzi I.
Archer S.
Au S.
Auray-Blais C.
Baker M.
Bamforth F.
Beckmann K.
Pino G.B.
Berberich S.L.
Binard R.
Boemer F.
Bonham J.
Breen N.N.
Bryant S.C.
Caggana M.
Caldwell S.G.
Camilot M.
Campbell C.
Carducci C.
Cariappa R.
Carlisle C.
Caruso U.
Cassanello M.
Castilla A.M.
Ramos D.E.C.
Chakraborty P.
Chandrasekar R.
Ramos A.C.
Cheillan D.
Childs T.A.
Chrastina P.
Sica Y.C.
Cocho De Juan J.A.
Colandre M.E.
Espinoza V.C.
Corso G.
Currier R.
Cyr D.
Czuczy N.
D'Apolito O.
Davis T.
De Sain-Van Der Velden M.G.
Pecellin C.D.
Di Gangi I.M.
Di Stefano C.M.
Dotsikas Y.
Downing M.
Downs S.M.
Dy B.
Dymerski M.
Rueda I.
Elvers B.
Eaton R.
Eckerd B.M.
El Mougy F.
Eroh S.
Espada M.
Evans C.
Fawbush S.
Fijolek K.F.
Fisher L.
Franzson L.
Frazier D.M.
Garcia L.R.C.
Bermejo M.S.G.-V.
Gavrilov D.
Gerace R.
Giordano G.
Irazabal Y.G.
Greed L.C.
Grier R.
Grycki E.
Gu X.
Gulamali-Majid F.
Hagar A.F.
Han L.
Hannon W.H.
Haslip C.
Hassan F.A.
He M.
Hietala A.
Himstedt L.
Hoffman G.L.
Hoffman W.
Hoggatt P.
Hopkins P.V.
Hougaard D.M.
Hughes K.
Hunt P.R.
Hynes J.
Ibarra-Gonz?lez I.
Ingham C.A.
Ivanova M.
Jacox W.B.
John C.
Johnson J.P.
J?nsson J.J.
Karg E.
Kasper D.
Klopper B.
Katakouzinos D.
Khneisser I.
Knoll D.
Kobayashi H.
Koneski R.
Ko?ich V.
Kouapei R.
Kohlmueller D.
Kremensky I.
La Marca G.
Lavochkin M.
Lee S.-Y.
Lehotay D.C.
Lemes A.
Lepage J.
Lesko B.
Lewis B.
Lim C.
Linard S.
Lindner M.
Lloyd-Puryear M.A.
Lorey F.
Loukas Y.L.
Luedtke J.
Maffitt N.
Magee J.F.
Manning A.
Manos S.
Marie S.
Hadachi S.M.
Marquardt G.
Martin S.J.
Matern D.
Gibson S.K.M.
Mayne P.
McCallister T.D.
McCann M.
McClure J.
McGill J.J.
McKeever C.D.
McNeilly B.
Morrissey M.A.
Moutsatsou P.
Mulcahy E.A.
Nikoloudis D.
Norgaard-Pedersen B.
Oglesbee D.
Oltarzewski M.
Ombrone D.
Ojodu J.
Papakonstantinou V.
Reoyo S.P.
Park H.-D.
Pasquali M.
Pasquini E.
Patel P.
Pass K.A.
Peterson C.
Pettersen R.D.
Pitt J.J.
Poh S.
Pollak A.
Porter C.
Poston P.A.
Price R.W.
Queijo C.
Quesada J.
Randell E.
Ranieri E.
Raymond K.
Reddic J.E.
Reuben A.
Ricciardi C.
Rinaldo P.
Rivera J.D.
Roberts A.
Rocha H.
Roche G.
Greenberg C.R.
Mellado J.M.E.
Juan-Fita M.J.
Ruiz C.
Ruoppolo M.
Rutledge S.L.
Ryu E.
Saban C.
Sahai I.
Garc?a-Blanco M.I.S.
Santiago-Borrero P.
Schenone A.
Schoos R.
Schweitzer B.
Scott P.
Seashore M.R.
Seeterlin M.A.
Sesser D.E.
Sevier D.W.
Shone S.M.
Sinclair G.
Skrinska V.A.
Stanley E.L.
Strovel E.T.
Jones A.L.S.
Sunny S.
Takats Z.
Tanyalcin T.
Teofoli F.
Thompson J.R.
Tomashitis K.
Domingos M.T.
Torres J.
Torres R.
Tortorelli S.
Turi S.
Turner K.
Tzanakos N.
Valiente A.G.
Vallance H.
Vela-Amieva M.
Vilarinho L.
Von D?beln U.
Vincent M.-F.
Vorster B.C.
Watson M.S.
Webster D.
Weiss S.
Wilcken B.
Wiley V.
Williams S.K.
Willis S.A.
Woontner M.
Wright K.
Yahyaoui R.
Yamaguchi S.
Yssel M.
Zakowicz W.M.
Abstract
PURPOSE
Other Subjects
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
Type
journal article