Development of Second-Tier Liquid Chromatography-Tandem Mass Spectrometry Analysis for Expanded Newborn Screening in Japan
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作者:
Shigematsu, Yosuke
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Univ Fukui, Fac Med Sci, Dept Pediat, Fukui 9101193, Japan
Uji Tokushukai Med Ctr, Dept Pediat, Uji 6110041, JapanUniv Fukui, Fac Med Sci, Dept Pediat, Fukui 9101193, Japan
Shigematsu, Yosuke
[1
,2
]
Yuasa, Miori
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Univ Fukui, Fac Med Sci, Dept Pediat, Fukui 9101193, JapanUniv Fukui, Fac Med Sci, Dept Pediat, Fukui 9101193, Japan
Yuasa, Miori
[1
]
Ishige, Nobuyuki
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机构:
Tokyo Hlth Serv Assoc, Div Newborn Screening, Tokyo 1628402, JapanUniv Fukui, Fac Med Sci, Dept Pediat, Fukui 9101193, Japan
Ishige, Nobuyuki
[3
]
Nakajima, Hideki
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机构:
Natl Ctr Child Hlth & Dev, Res Inst, Div Neonatal Screening, Tokyo 1578535, JapanUniv Fukui, Fac Med Sci, Dept Pediat, Fukui 9101193, Japan
Nakajima, Hideki
[4
]
Tajima, Go
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Natl Ctr Child Hlth & Dev, Res Inst, Div Neonatal Screening, Tokyo 1578535, JapanUniv Fukui, Fac Med Sci, Dept Pediat, Fukui 9101193, Japan
Tajima, Go
[4
]
机构:
[1] Univ Fukui, Fac Med Sci, Dept Pediat, Fukui 9101193, Japan
[2] Uji Tokushukai Med Ctr, Dept Pediat, Uji 6110041, Japan
[3] Tokyo Hlth Serv Assoc, Div Newborn Screening, Tokyo 1628402, Japan
[4] Natl Ctr Child Hlth & Dev, Res Inst, Div Neonatal Screening, Tokyo 1578535, Japan
To minimize false-positive cases in newborn screening by tandem mass spectrometry in Japan, practical second-tier liquid chromatography-tandem mass spectrometry analyses have been developed using a multimode ODS column with a single set of mobile phases and different gradient elution programs specific to the analysis of acylcarnitines, acylglycines, amino acids, and organic acids. Most analyses were performed using underivatized samples, except for analysis of methylcitric acid, and careful conditioning of the column was necessary for analyses of organic acids. Our second-tier tests enabled us to measure many metabolites useful for detection of target disorders, including allo-isoleucine, homocysteine, methylmalonic acid, and methylcitric acid. We found that accumulation of 3-hydroxyglutaric acid was specific to glutaric acidemia type I and that the ratio of 3-hydroxyisovaleric acid to 3-hydroxyisovalerylcarnitine was useful to detect newborns of mothers with 3-methylcrotonyl-CoA carboxylase deficiency. Data from the analysis of short-chain acylcarnitine and acylglycine were useful for differential diagnosis in cases positive for C5-OH-acylcarnitine or C5-acylcarnitine.
机构:
Univ Washington, Dept Chem, Seattle, WA 98195 USA
Univ Washington, Dept Biochem, Seattle, WA 98195 USAUniv Washington, Dept Chem, Seattle, WA 98195 USA
Gelb, Michael H.
Basheeruddin, Khaja
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Newborn Screening Lab, Illinois Dept Publ Hlth, Chicago, IL 60612 USAUniv Washington, Dept Chem, Seattle, WA 98195 USA
Basheeruddin, Khaja
Burlina, Alberto
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机构:
Univ Hosp Padova, Reference Ctr Expanded Newborn Screening, Div Inherited Metab Dis, I-35128 Padua, ItalyUniv Washington, Dept Chem, Seattle, WA 98195 USA
Burlina, Alberto
Chen, Hsiao-Jan
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Chinese Fdn Hlth, Neonatal Screening Ctr, Taipei 110, TaiwanUniv Washington, Dept Chem, Seattle, WA 98195 USA
Chen, Hsiao-Jan
Chien, Yin-Hsiu
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Natl Taiwan Univ Hosp, Dept Med Genet & Pediat, Taipei 100, Taiwan
Natl Taiwan Univ, Coll Med, Taipei 100, TaiwanUniv Washington, Dept Chem, Seattle, WA 98195 USA
Chien, Yin-Hsiu
Dizikes, George
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Tennessee Dept Hlth, Div Lab Serv, Knoxville, TN 37920 USAUniv Washington, Dept Chem, Seattle, WA 98195 USA
Dizikes, George
Dorley, Christine
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Tennessee Dept Hlth, Div Lab Serv, Knoxville, TN 37920 USAUniv Washington, Dept Chem, Seattle, WA 98195 USA
Dorley, Christine
Giugliani, Roberto
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Univ Fed Rio Grande do Sul, Med Genet Serv, HCPA, DASA & Casa Raros,Dept Genet, BR-91501970 Porto Alegre, BrazilUniv Washington, Dept Chem, Seattle, WA 98195 USA
Giugliani, Roberto
Hietala, Amy
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Newborn Screening Lab, Minnesota Dept Hlth, St Paul, MN 55164 USAUniv Washington, Dept Chem, Seattle, WA 98195 USA
Hietala, Amy
Hong, Xinying
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机构:
Univ Washington, Dept Chem, Seattle, WA 98195 USA
Univ Washington, Dept Biochem, Seattle, WA 98195 USAUniv Washington, Dept Chem, Seattle, WA 98195 USA
Hong, Xinying
Kao, Shu-Min
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Chinese Fdn Hlth, Neonatal Screening Ctr, Taipei 110, TaiwanUniv Washington, Dept Chem, Seattle, WA 98195 USA
Kao, Shu-Min
Khaledi, Hamid
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GelbChem LLC, 4000 Mason Rd 300, Seattle, WA 98105 USAUniv Washington, Dept Chem, Seattle, WA 98195 USA
Khaledi, Hamid
Klug, Tracy
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Missouri Dept Hlth & Sr Serv, POB 570, Jefferson City, MO 65102 USAUniv Washington, Dept Chem, Seattle, WA 98195 USA
Klug, Tracy
Kubaski, Francyne
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Univ Fed Rio Grande do Sul, Med Genet Serv, HCPA, DASA & Casa Raros,Dept Genet, BR-91501970 Porto Alegre, BrazilUniv Washington, Dept Chem, Seattle, WA 98195 USA
Kubaski, Francyne
Liao, Hsuan-Chieh
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Univ Washington, Dept Lab Med & Pathol, Seattle, WA 98195 USAUniv Washington, Dept Chem, Seattle, WA 98195 USA
Liao, Hsuan-Chieh
Martin, Monica
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机构:
Wadsworth Ctr, David Axelrod Inst, New York State Dept Hlth, Newborn Screening Program, 120 New Scotland Ave, Albany, NY 12201 USAUniv Washington, Dept Chem, Seattle, WA 98195 USA
Martin, Monica
Manning, Adrienne
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Katherine A Kelley Publ Hlth Lab, Connecticut Dept Publ Hlth, Rocky Hill, CT 06067 USAUniv Washington, Dept Chem, Seattle, WA 98195 USA
Manning, Adrienne
Orsini, Joseph
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机构:
Wadsworth Ctr, David Axelrod Inst, New York State Dept Hlth, Newborn Screening Program, 120 New Scotland Ave, Albany, NY 12201 USAUniv Washington, Dept Chem, Seattle, WA 98195 USA
Orsini, Joseph
Peng, Yin
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Newborn Screening Lab, Illinois Dept Publ Hlth, Chicago, IL 60612 USAUniv Washington, Dept Chem, Seattle, WA 98195 USA
Peng, Yin
Ranieri, Enzo
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SA Pathol WCH Site, Genet & Mol Pathol, Adelaide, SA 5043, AustraliaUniv Washington, Dept Chem, Seattle, WA 98195 USA
Ranieri, Enzo
Rohrwasser, Andreas
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Utah Dept Hlth & Human Serv, Salt Lake City, UT 84129 USAUniv Washington, Dept Chem, Seattle, WA 98195 USA
Rohrwasser, Andreas
Szabo-Fresnais, Nicolas
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Utah Dept Hlth & Human Serv, Salt Lake City, UT 84129 USAUniv Washington, Dept Chem, Seattle, WA 98195 USA
Szabo-Fresnais, Nicolas
Turgeon, Coleman T.
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机构:
Mayo Clin, Dept Lab Med & Pathol, Biochem Genet Lab, Rochester, MN 55902 USAUniv Washington, Dept Chem, Seattle, WA 98195 USA
Turgeon, Coleman T.
Vaz, Frederick M.
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机构:Univ Washington, Dept Chem, Seattle, WA 98195 USA
Vaz, Frederick M.
Wang, Li-yun
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机构:Univ Washington, Dept Chem, Seattle, WA 98195 USA
Wang, Li-yun
Matern, Dietrich
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Mayo Clin, Dept Lab Med & Pathol, Biochem Genet Lab, Rochester, MN 55902 USAUniv Washington, Dept Chem, Seattle, WA 98195 USA
机构:
Univ Delhi, Dept Pediat, Maulana Azad Med Coll, Lok Nayak Hosp, Delhi, IndiaUniv Delhi, Dept Pediat, Maulana Azad Med Coll, Lok Nayak Hosp, Delhi, India
Varughese, Bijo
Madrewar, Dnyanoba
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机构:
Perkin Elmer India Pvt Ltd, Dept Analyt Chem, Mumbai, Maharashtra, IndiaUniv Delhi, Dept Pediat, Maulana Azad Med Coll, Lok Nayak Hosp, Delhi, India
Madrewar, Dnyanoba
Polipalli, Sunil Kumar
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Univ Delhi, Dept Pediat, Maulana Azad Med Coll, Lok Nayak Hosp, Delhi, IndiaUniv Delhi, Dept Pediat, Maulana Azad Med Coll, Lok Nayak Hosp, Delhi, India
Polipalli, Sunil Kumar
Ramji, Siddarth
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Univ Delhi, Dept Neonatol, Maulana Azad Med Coll, Lok Nayak Hosp, Delhi, IndiaUniv Delhi, Dept Pediat, Maulana Azad Med Coll, Lok Nayak Hosp, Delhi, India
Ramji, Siddarth
Kapoor, Seema
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Univ Delhi, Dept Pediat, Maulana Azad Med Coll, Lok Nayak Hosp, Delhi, IndiaUniv Delhi, Dept Pediat, Maulana Azad Med Coll, Lok Nayak Hosp, Delhi, India
机构:
Catalan Inst Water Res ICRA, Girona 17003, Spain
ICREA Catalan Inst Res & Adv Studies, Barcelona, SpainCatalan Inst Water Res ICRA, Girona 17003, Spain
Petrovic, Mira
Barcelo, Damia
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Catalan Inst Water Res ICRA, Girona 17003, SpainCatalan Inst Water Res ICRA, Girona 17003, Spain