相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Revised Hammersmith Scale for spinal muscular atrophy: A SMA specific clinical outcome assessment tool
Danielle Ramsey et al.
PLOS ONE (2017)
Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System
RaeLynn Forsyth et al.
MOLECULAR GENETICS AND METABOLISM (2016)
A framework for assessing outcomes from newborn screening: on the road to measuring its promise
Cynthia F. Hinton et al.
MOLECULAR GENETICS AND METABOLISM (2016)
Retrospective assessment of prenatal alcohol exposure by detection of phosphatidylethanol in stored dried blood spot cards: An objective method for determining prevalence rates of alcohol consumption during pregnancy
Aileen E. Baldwin et al.
INTERNATIONAL JOURNAL OF ALCOHOL AND DRUG RESEARCH (2015)
Postanalytical tools improve performance of newborn screening by tandem mass spectrometry
Patricia L. Hall et al.
GENETICS IN MEDICINE (2014)
Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States
Antonia Kwan et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2014)
Newborn Screening for SCID in New York State: Experience from the First Two Years
Beth H. Vogel et al.
JOURNAL OF CLINICAL IMMUNOLOGY (2014)
Rare Diseases Research Expanding Collaborative Translational Research Opportunities
Stephen C. Groft
CHEST (2013)
Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: Results of the first 2 years
Antonia Kwan et al.
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2013)
Expanding research to provide an evidence base for nutritional interventions for the management of inborn errors of metabolism
Kathryn M. Camp et al.
MOLECULAR GENETICS AND METABOLISM (2013)
Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: The winner is T-cell receptor excision circles
Jennifer M. Puck
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2012)
The long quest for neonatal screening for severe combined immunodeficiency
Rebecca H. Buckley
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY (2012)
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
Cynthia F. Hinton et al.
GENETICS IN MEDICINE (2011)
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project
David M. S. McHugh et al.
GENETICS IN MEDICINE (2011)
Newborn screening conditions: What we know, what we do not know, and how we will know it
Harvey L. Levy
GENETICS IN MEDICINE (2010)
Supporting Family Adaptation to Presymptomatic and Untreatable Conditions in an Era of Expanded Newborn Screening
Donald B. Bailey et al.
JOURNAL OF PEDIATRIC PSYCHOLOGY (2009)
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
Alex R. Kemper et al.
GENETICS IN MEDICINE (2008)
Developing a national collaborative study system for rare genetic diseases
Michael S. Watson et al.
GENETICS IN MEDICINE (2008)
NICHD research initiative in newborn screening
Duane Alexander et al.
MENTAL RETARDATION AND DEVELOPMENTAL DISABILITIES RESEARCH REVIEWS (2006)
分享论文
