Follow-up status during the first 5 years of life for metabolic disorders on the federal Recommended Uniform Screening Panel

scientific article published on 7 December 2017

Follow-up status during the first 5 years of life for metabolic disorders on the federal Recommended Uniform Screening Panel is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1038/GIM.2017.199
P698PubMed publication ID29215646

P2093author name stringJuan Yang
Robert Currier
Lisa Feuchtbaum
P2860cites workSpectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screeningQ46616431
Long-term follow-up culture in state newborn screening programsQ47684808
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 ScreeningQ61585097
Newborn screening conditions: What we know, what we do not know, and how we will know itQ64042086
Exploring barriers to long-term follow-up in newborn screening programsQ80277552
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 ChildrenQ81089607
Evaluation and long-term follow-up of infants with inborn errors of metabolism identified in an expanded screening programmeQ82035881
Practices and perceptions of long-term follow-up among state newborn screening programsQ83895397
Expanded newborn screening: reducing harm, assessing benefitQ84152808
"I'm fine; I'm just waiting for my disease": the new and growing class of presymptomatic patientsQ84553807
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 GermanyQ21202867
Newborn screening: toward a uniform screening panel and systemQ28246824
Long-term follow-up data collection and use in state newborn screening programsQ31131734
The context and approach for the California newborn screening short- and long-term follow-up data system: preliminary findingsQ33768556
The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD DeficiencyQ36894924
Developing a public health-tracking system for follow-up of newborn screening metabolic conditions: a four-state pilot project structure and initial findingsQ36939893
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders ConsortiumQ37038752
Patients-in-waiting: Living between sickness and health in the genomics era.Q37816055
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 ChildrenQ37895875
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 CollaborativeQ39539724
A framework for assessing outcomes from newborn screening: on the road to measuring its promiseQ39705746
Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotypeQ40352479
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 screeningQ43649624
Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in CaliforniaQ43970662
Clinical and biological features at diagnosis in mitochondrial fatty acid beta-oxidation defects: a French pediatric study of 187 patientsQ44170946
Developing a National Registry for conditions identifiable through newborn screening.Q44669406
P407language of work or nameEnglishQ1860
P577publication date2017-12-07
P1433published inGenetics in MedicineQ15765508
P1476titleFollow-up status during the first 5 years of life for metabolic disorders on the federal Recommended Uniform Screening Panel

Reverse relations

cites work (P2860)
Q89769213Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next-generation sequencing gene panel
Q90628003Newborn screening for severe combined immunodeficiency and T-cell lymphopenia
Q98303537The role of exome sequencing in newborn screening for inborn errors of metabolism

Search more.