Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective.
about
Functional effects of different medium-chain acyl-CoA dehydrogenase genotypes and identification of asymptomatic variantsProtein misfolding is the molecular mechanism underlying MCADD identified in newborn screeningFunctional studies of 18 heterologously expressed medium-chain acyl-CoA dehydrogenase (MCAD) variants.Dynamic simulations on the mitochondrial fatty acid beta-oxidation network.The first three years of screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) by newborn screening ontario.Neuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screeningIncidence and patterns of inborn errors of metabolism in the Eastern Province of Saudi Arabia, 1983-2008Biochemical correction of short-chain acyl-coenzyme A dehydrogenase deficiency after portal vein injection of rAAV8-SCAD.A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case reportBirth Prevalence of Fatty Acid β-Oxidation Disorders in Iberia.Recombinant adeno-associated virus-mediated gene delivery of long chain acyl coenzyme A dehydrogenase (LCAD) into LCAD-deficient miceNewborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: prevalence, predictive value and test validity based on 1.5 million screened babiesMedium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn ScreeningIncidence of medium-chain acyl-CoA dehydrogenase deficiency in Canada using the Canadian Paediatric Surveillance Program: Role of newborn screening.Intermediate MCAD Deficiency Associated with a Novel Mutation of the ACADM Gene: c.1052C>TThe health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study.Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency.Expanding newborn screening for lysosomal disorders: opportunities and challenges.221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative.Sudden unexpected infant death (SUDI) in a newborn due to medium chain acyl CoA dehydrogenase (MCAD) deficiency with an unusual severe genotype.Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in Portugal.Medium-chain acyl-CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implications.Progress in expanded newborn screening for metabolic conditions by LC-MS/MS in Tuscany: update on methods to reduce false tests.Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies.Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism
P2860
Q21134055-7838C26B-8CB6-4E19-BFDB-FDC048FB895FQ24312099-68F5707C-0D64-4F42-AB9F-A00955A37948Q30363996-22A3B432-B3B6-4C33-AFEC-5C3118F79255Q33397846-130AB675-FA70-4AA8-A36A-6CA0E31D2794Q33749006-91235EAE-497A-49C1-BBF6-443F3B2F0958Q34065034-33261B2F-D751-4F10-B0D2-24DD6BA8B9CAQ34099238-65F09332-96F0-486A-95AB-52EF59C516A2Q34132611-1511B434-123F-4F7D-A95C-7BAA3580BDBCQ34258362-4E05EF0A-BFA2-4C10-B974-1DEA25B4B92EQ34457697-E4458467-5155-4098-9910-F26FC9D5F26BQ35055915-2F9D4A64-CE2A-4ADD-AD21-8C0CD6000D98Q35626478-F7DDC175-ECF3-4321-9904-BC9D3B90FD82Q35795433-CABA2899-8EAC-437F-937E-90F780587BA9Q36054005-598C4D81-5326-4CB8-AB2D-7D61267BFE04Q36427195-D7B488CD-1487-4DC6-9BF3-F1443444BC8DQ36543005-E28A4813-3565-4032-B45C-FC6F72DA4036Q37033554-D89DACAF-14EB-4750-AD56-C9B89F1B102BQ37996967-A8E77673-BB85-45A0-A145-BEA8B4F07079Q39539724-E9879AD6-62F0-44B6-A9E0-666C19E9E54AQ41577930-3CE455F3-D8B5-4479-B819-8C1BD9039EF5Q44734145-DFF5A0FB-5477-4293-9E95-ADC7F35F16C6Q46288565-3B7183DB-E14B-431D-A221-2B4E1959068BQ46290639-6214675E-DB4A-48A1-AB21-55752C5818D1Q51330620-F6BD1D4C-2FF5-4573-9B34-FE09E3DE68DEQ53466033-D2609090-D63A-4F0C-A28C-0505EDA6CA1D
P2860
Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
2006年论文
@zh
2006年论文
@zh-cn
name
Newborn screening for medium-c ...... iciency: a global perspective.
@ast
Newborn screening for medium-c ...... iciency: a global perspective.
@en
type
label
Newborn screening for medium-c ...... iciency: a global perspective.
@ast
Newborn screening for medium-c ...... iciency: a global perspective.
@en
prefLabel
Newborn screening for medium-c ...... iciency: a global perspective.
@ast
Newborn screening for medium-c ...... iciency: a global perspective.
@en
P1476
Newborn screening for medium-c ...... iciency: a global perspective.
@en
P2093
William J Rhead
P2888
P304
P356
10.1007/S10545-006-0292-1
P577
2006-04-01T00:00:00Z