about
Clinical Metabolomics: The New Metabolic Window for Inborn Errors of Metabolism Investigations in the Post-Genomic EraReview and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disordersReview of Current International Decision-Making Processes for Newborn Screening: Lessons for AustraliaOmics-Based Strategies in Precision Medicine: Toward a Paradigm Shift in Inborn Errors of Metabolism InvestigationsGovernance Through Privacy, Fairness, and Respect for IndividualsSudden Unexpected Death in Fetal Life Through Early ChildhoodThe investigation of inborn errors of metabolism as an underlying cause of idiopathic intellectual disability in adults in Norway.Parental Experiences of Raising a Child With Medium Chain Acyl-CoA Dehydrogenase Deficiency.Healthcare professionals' and parents' experiences of the confirmatory testing period: a qualitative study of the UK expanded newborn screening pilot.State of rare disease management in Southeast Asia.Assessment of the Knowledge and Attitudes of Saudi Mothers towards Newborn ScreeningInsights in Public Health: Newborn Screening Saves Babies Using Public/Private Partnerships.Showing Value in Newborn Screening: Challenges in Quantifying the Effectiveness and Cost-Effectiveness of Early Detection of Phenylketonuria and Cystic Fibrosis.The health system impact of false positive newborn screening results for medium-chain acyl-CoA dehydrogenase deficiency: a cohort study.Predicting gestational age using neonatal metabolic markers.Family, Community, and Health System Considerations for Reducing the Burden of Pediatric Sickle Cell Disease in Uganda Through Newborn ScreeningThe Use of Economic Evaluation to Inform Newborn Screening Policy Decisions: The Washington State Experience.Screening for Familial Hypercholesterolemia in Children: What Can We Learn From Adult Screening Programs?Postnatal Prediction of Gestational Age Using Newborn Fetal Hemoglobin Levels.Policy Making in Newborn Screening Needs a Structured and Transparent Approach.Progress toward improved therapies for inborn errors of metabolism.Advances in metabolome information retrieval: turning chemistry into biology. Part II: biological information recovery.Advances in metabolome information retrieval: turning chemistry into biology. Part I: analytical chemistry of the metabolome.Long-term outcome of expanded newborn screening at Boston children's hospital: benefits and challenges in defining true disease.Expanded Newborn Screening Program in Saudi Arabia: Incidence of screened disorders.International differences in the evaluation of conditions for newborn bloodspot screening: a review of scientific literature and policy documents.Clinical translation of MS-based, quantitative plasma proteomics: status, challenges, requirements, and potential.Consent for newborn screening: parents' and health-care professionals' experiences of consent in practice.Risk factors for hospitalization of children with congenital adrenal hyperplasia.Maple syrup urine disease: mechanisms and management.Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorderCorrelation of blood biomarkers with age informs pathomechanisms in succinic semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism.First Year of Israeli Newborn Screening for Severe Combined Immunodeficiency-Clinical Achievements and Insights.Newborn Screening for Primary Immunodeficiency Diseases: History, Current and Future Practice.Reference values of amino acids, acylcarnitines and succinylacetone by tandem mass spectrometry for use in newborn screening in southwest Colombia.Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability.Reply to A Mackie.Newborn cystic fibrosis screening in southeastern Mexico: Birth prevalence and novel CFTR gene variants.Cost-Effectiveness Methods and Newborn Screening Assessment.Expanded Newborn Screening Programme in Saudi Arabia: Are We Ready?
P2860
Q26742050-0E83ACB9-2216-42FB-99DC-88CE9D2452ACQ26771677-302171EC-A06E-400B-B0BD-3FCB845B18F5Q26781078-7ADBA958-FCCE-4A9C-956B-1A0B0A7DF72FQ28068009-B2C837B0-E621-4D1E-A342-4F1071E8CE8FQ28600909-5AD5A323-51F2-4728-A41D-B3796E74CD68Q30352522-B9E626CC-7B26-42CE-8E39-B5685EF49642Q31022422-94A7BF51-D190-4C00-8D4B-96FE1A936FA5Q33641855-0F849E90-4BC9-492E-989D-F5F7BB711443Q33651744-CDA8BFCF-31F1-4201-B0C7-FA8558807A8BQ36092941-3F3C1719-6E3C-4CAD-886D-9AF21D98B8FBQ36206038-8476F942-A84F-4270-B64B-B4B3B06315B0Q36362450-5E2C9079-4A3F-43EA-A1EA-75A9BDBC24D7Q36390515-2A4EBED5-76E2-478E-ADC0-422199F7D203Q36543005-64D6DD0B-16A2-4451-81D2-CCA90C935C0AQ36731296-C3F8B411-4104-44DC-BC8C-7BB233A8E431Q36997654-3052B2AE-8179-40F8-987B-4AD88CAF3C3AQ37015264-787D0015-99DA-4889-A2AE-24EB9159F659Q37069579-C04EA38B-4EEA-44B4-8DFA-03C39E443A38Q37584268-E1E6AD74-B23B-4F8E-BF1B-C84C8675A15FQ37712509-629492C4-8BC1-4EAD-9D55-61A66E11C354Q38601073-5E1DDC9D-5B3D-40CD-BCE6-5BFC118D7644Q38607534-C3F1CECD-6B0C-4908-9436-97A8AACE99DDQ38608766-C64E6041-38FD-4781-9112-CC6C25B0C6B3Q38774706-051660A7-0AC2-40F8-A08A-4ED10AED3904Q38880427-57EA069D-8733-444F-9A71-8EBF3EB002F5Q39009990-04111C8C-09EB-4EEC-9521-ECA2CFC97DEBQ39657160-1CCCCE96-0CF5-44BC-BACF-B8781FA32235Q39682824-8AA54D90-E5E7-415C-AD21-B5B0DF638ED4Q40334828-BD141F78-D362-4043-9B16-7C2A727841B9Q41355931-C9D37196-92B3-46D9-9022-78AC953DA96BQ41702791-6A6EF233-68C7-42FD-874C-3E4EB0525DE5Q42755232-622B0764-8DF9-4697-B8B1-F9FA3170970FQ43878336-540AB233-E899-4E54-ABE8-A1725778C196Q47096172-42B69C35-C207-456D-B22D-F19AD62CA697Q47116026-89D3BCEF-09FF-4A0C-9675-C403683DE47BQ47903478-CF23E386-5F04-4D1D-8442-D9328C6EA67CQ48232320-033B0E62-E3ED-4D42-9397-45DC0FC3E2C0Q49383829-DFCFB40B-A607-495D-98D1-C8B6AC1BC7C4Q50041277-2A704B41-52D1-4AD6-82A1-02E28BB18C6BQ50072916-5ED9082A-BB20-49D8-BA5D-F177A0B21377
P2860
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Current status of newborn screening worldwide: 2015.
@en
type
label
Current status of newborn screening worldwide: 2015.
@en
prefLabel
Current status of newborn screening worldwide: 2015.
@en
P2093
P1476
Current status of newborn screening worldwide: 2015.
@en
P2093
Amal Saadallah
Bradford L Therrell
Carmencita David Padilla
Gustavo J C Borrajo
Issam Kneisser
J Gerard Loeber
John Adams
P304
P356
10.1053/J.SEMPERI.2015.03.002
P577
2015-04-01T00:00:00Z