Clinically presenting fatty acid oxidation defect with a mild medium chain acyl-CoA dehydrogenase deficiency (MCADD) biochemical phenotype and normal dried blood spot octanoyl carnitine (C8), not detected by newborn screening

被引：0

作者：

Sharrard, M. J. ^{[1
]}

Downing, M. ^{[1
]}

Clark, S. ^{[1
]}

Olpin, S. E. ^{[1
]}

Manning, N. J. ^{[1
]}

Durkie, M. ^{[1
]}

Watkinson, J. ^{[1
]}

Bonham, J. R. ^{[1
]}

机构：

[1] Child Hosp, Sheffield, S Yorkshire, England

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 2007年 / 30卷

关键词：

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：49 / 49

页数：1

共 6 条

[1] Outcome of an elevated octanoyl carnitine (C8) form newborn screening dried blood spot (DBS) samples obtained during screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) in those not affected with MCADD
Sharrard, M. J.
Downing, M. J.
Manning, N. J.
Olpin, S. E.
Clark, S.
Matthews, A. J.
Bonham, J. R.
JOURNAL OF INHERITED METABOLIC DISEASE, 2008, 31 : 33 - 33
[2] NEWBORN SCREENING FOR MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY: EVALUATION OF C8/C12 AS A SECONDARY MARKER
Fisher, L. J.
Al-Dirbashi, O.
Kennedy, S. J.
Milburn, J. L.
Geraghty, M. T.
McRoberts, C.
Zelenietz, S.
Gall, K.
Chakraborty, P.
MOLECULAR GENETICS AND METABOLISM, 2010, 99 (03) : 214 - 214
[3] NEWBORN SCREENING FOR MEDIUM CHAIN ACYL COA DEHYDROGENASE DEFICIENCY (MCADD) AT ONE WEEK OF AGE: OCTANOYL CARNITINE DISTRIBUTIONS FROM A MULTICENTRE STUDY USING ELECTROSPRAY TANDEM MASS SPECTROMETRY OF UNDERIVATISED BLOOD SPOT SAMPLES
Phillips, P.
Dalton, R. N.
Besley, G.
Bonham, J. R.
Foo, Y.
Green, A.
Henderson, M.
Oerton, J.
Dezateux, C.
JOURNAL OF INHERITED METABOLIC DISEASE, 2005, 28 : 9 - 9
[4] Blood acylcarnitine levels in normal newborns and heterozygotes for medium-chain acyl-CoA dehydrogenase deficiency: A relationship between genotype and biochemical phenotype?
Lehotay, DC
LePage, J
Thompson, JR
Rockman-Greenberg, C
JOURNAL OF INHERITED METABOLIC DISEASE, 2004, 27 (01) : 81 - 88
[5] Short chain acyl-CoA dehydrogenase deficiency and other rare disorders of metabolism with elevated C4-carnitine detected by tandem mass spectroscopy newborn screening
Koeberl, Dwight
MOLECULAR GENETICS AND METABOLISM, 2011, 102 (03) : 257 - 258
[6] Correcting false positive medium-chain acyl-CoA dehydrogenase deficiency results from newborn screening; synthesis, purification, and standardization of branched-chain C8 acylcarnitines for use in their selective and accurate absolute quantitation by UHPLC-MS/MS
Minkler, Paul E.
Stoll, Maria S. K.
Ingalls, Stephen T.
Hoppel, Charles L.
MOLECULAR GENETICS AND METABOLISM, 2017, 120 (04) : 363 - 369

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