scholarly article | Q13442814 |
P356 | DOI | 10.1038/GIM.2017.199 |
P698 | PubMed publication ID | 29215646 |
P2093 | author name string | Juan Yang | |
Robert Currier | |||
Lisa Feuchtbaum | |||
P2860 | cites work | Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screening | Q46616431 |
Long-term follow-up culture in state newborn screening programs | Q47684808 | ||
Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study from 187 patients. Complementary data. | Q50872281 | ||
VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria. | Q51727754 | ||
Expanded newborn screening: outcome in screened and unscreened patients at age 6 years. | Q51819165 | ||
Newborn Screening | Q61585097 | ||
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Long-term follow-up after diagnosis resulting from newborn screening: statement of the US Secretary of Health and Human Services' Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children | Q81089607 | ||
Evaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programme | Q82035881 | ||
Practices and perceptions of long-term follow-up among state newborn screening programs | Q83895397 | ||
Expanded newborn screening: reducing harm, assessing benefit | Q84152808 | ||
"I'm fine; I'm just waiting for my disease": the new and growing class of presymptomatic patients | Q84553807 | ||
3-Methylcrotonyl-CoA carboxylase deficiency: to screen or not to screen? | Q86895790 | ||
Efficacy and outcome of expanded newborn screening for metabolic diseases--report of 10 years from South-West Germany | Q21202867 | ||
Newborn screening: toward a uniform screening panel and system | Q28246824 | ||
Long-term follow-up data collection and use in state newborn screening programs | Q31131734 | ||
The context and approach for the California newborn screening short- and long-term follow-up data system: preliminary findings | Q33768556 | ||
The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency | Q36894924 | ||
Developing a public health-tracking system for follow-up of newborn screening metabolic conditions: a four-state pilot project structure and initial findings | Q36939893 | ||
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium | Q37038752 | ||
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What questions should newborn screening long-term follow-up be able to answer? A statement of the US Secretary for Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children | Q37895875 | ||
Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database. | Q38150536 | ||
221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative | Q39539724 | ||
A framework for assessing outcomes from newborn screening: on the road to measuring its promise | Q39705746 | ||
Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype | Q40352479 | ||
Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening. | Q43612324 | ||
Malonic aciduria: long-term follow-up of new patients detected by newborn screening | Q43649624 | ||
Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California | Q43970662 | ||
Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study of 187 patients | Q44170946 | ||
Developing a National Registry for conditions identifiable through newborn screening. | Q44669406 | ||
P407 | language of work or name | English | Q1860 |
P577 | publication date | 2017-12-07 | |
P1433 | published in | Genetics in Medicine | Q15765508 |
P1476 | title | Follow-up status during the first 5 years of life for metabolic disorders on the federal Recommended Uniform Screening Panel |
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Q98303537 | The role of exome sequencing in newborn screening for inborn errors of metabolism |
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