The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C(4)-acylcarnitine concentration in newborn blood spots.
about
Flavin adenine dinucleotide status and the effects of high-dose riboflavin treatment in short-chain acyl-CoA dehydrogenase deficiencyShort-chain acyl-coenzyme A dehydrogenase deficiencyVulnerability to oxidative stress in vitro in pathophysiology of mitochondrial short-chain acyl-CoA dehydrogenase deficiency: response to antioxidantsFollow-up of patients with short-chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies identified through newborn screening: one center’s experienceMetabolic heritability at birth: implications for chronic disease research.A genome-wide perspective of genetic variation in human metabolism.Biochemical correction of short-chain acyl-coenzyme A dehydrogenase deficiency after portal vein injection of rAAV8-SCAD.Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency.Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptomsA Rare Case of Short-Chain Acyl-COA Dehydrogenase Deficiency: The Apparent Rarity of the Disorder Results in Under Diagnosis.An overview of biochemical genetics.Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in WisconsinShort-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms.Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency.Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia.
P2860
Q28266286-D85E56EF-8153-4A79-ADD6-01408A810845Q28299438-38BB5039-8AFE-4491-BC30-456AEBFB2FDEQ28477628-ADCB4843-BBCC-4BDE-9D9F-0D066688EC18Q29037124-D305985B-B737-4BBD-8AF6-D8D6A819C546Q33916772-DEBCDE7D-921A-4088-B141-D4D5E7167022Q34090221-DC547F01-5AD2-4CC3-A5B9-BC1F35FACE87Q34132611-8D3E65A6-FABA-41CB-8667-703D2506DFB0Q34159245-5047801B-0830-4CA4-8D1D-0F5C79549FB4Q34378278-F89F0F01-C10D-48C2-AA32-BF2F7C53FCA1Q35184294-867C9097-F87F-4F00-ADA5-A73A9326FFC9Q37144360-1843DF16-E6DF-4A40-ABC8-F6A55F285E2EQ37220977-12421575-1B7C-4F41-AEB2-FBC8A0872ECCQ39314157-D03E6989-3FB4-491D-9D36-26E891E3B163Q51922198-31167359-9BEA-42AF-9C93-63A8FE0475F1Q53438013-10334393-64F6-4792-804F-A7B27DE36499Q55226302-4AD4E6E2-4583-4605-9FE7-5803247D3192
P2860
The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C(4)-acylcarnitine concentration in newborn blood spots.
description
2003 nî lūn-bûn
@nan
2003年の論文
@ja
2003年学术文章
@wuu
2003年学术文章
@zh
2003年学术文章
@zh-cn
2003年学术文章
@zh-hans
2003年学术文章
@zh-my
2003年学术文章
@zh-sg
2003年學術文章
@yue
2003年學術文章
@zh-hant
name
The frequency of short-chain a ...... ion and correlation with the C
@nl
The frequency of short-chain a ...... ration in newborn blood spots.
@en
type
label
The frequency of short-chain a ...... ion and correlation with the C
@nl
The frequency of short-chain a ...... ration in newborn blood spots.
@en
prefLabel
The frequency of short-chain a ...... ion and correlation with the C
@nl
The frequency of short-chain a ...... ration in newborn blood spots.
@en
P2093
P1476
The frequency of short-chain a ...... ration in newborn blood spots.
@en
P2093
Angela L Tauscher
Dietrich Matern
Karen Snow Bailey
Kent E Kruckeberg
Narasimhan Nagan
Piero Rinaldo
P304
P356
10.1016/S1096-7192(03)00034-9
P577
2003-04-01T00:00:00Z