Literature DB >> 27561085

Long-term follow-up in newborn screening: the role of collaboration.

Melissa P Wasserstein1.   

Abstract

Entities:  

Year:  2016        PMID： 27561085      PMCID： PMC5383523          DOI： 10.1038/gim.2016.99

Source DB:  PubMed          Journal:  Genet Med        ISSN： 1098-3600            Impact factor:   8.822


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  4 in total

1.  A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS.

Authors:  R GUTHRIE; A SUSI
Journal:  Pediatrics       Date:  1963-09       Impact factor: 7.124

2.  Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database.

Authors:  Loren D M Pena; Sandra C van Calcar; Joyanna Hansen; Mathew J Edick; Cate Walsh Vockley; Nancy Leslie; Cynthia Cameron; Al-Walid Mohsen; Susan A Berry; Georgianne L Arnold; Jerry Vockley
Journal:  Mol Genet Metab       Date:  2016-05-13       Impact factor: 4.797

3.  Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System.

Authors:  RaeLynn Forsyth; Catherine Walsh Vockley; Mathew J Edick; Cynthia A Cameron; Sally J Hiner; Susan A Berry; Jerry Vockley; Georgianne L Arnold
Journal:  Mol Genet Metab       Date:  2016-02-15       Impact factor: 4.797

4.  Inborn Errors of Metabolism Collaborative: large-scale collection of data on long-term follow-up for newborn-screened conditions.

Authors:  Susan A Berry; Nancy D Leslie; Mathew J Edick; Sally Hiner; Kaitlin Justice; Cynthia Cameron
Journal:  Genet Med       Date:  2016-05-19       Impact factor: 8.822
  4 in total
  3 in total

1.  Experiences of Families Caring for Children with Newborn Screening-Related Conditions: Implications for the Expansion of Genomics in Population-Based Neonatal Public Health Programs.

Authors:  Lynn Bush; Hannah Davidson; Shani Gelles; Dawn Lea; Laura M Koehly
Journal:  Int J Neonatal Screen       Date:  2022-05-23

2.  Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada.

Authors:  Maria D Karaceper; Sara D Khangura; Kumanan Wilson; Doug Coyle; Marni Brownell; Christine Davies; Linda Dodds; Annette Feigenbaum; Deshayne B Fell; Scott D Grosse; Astrid Guttmann; Steven Hawken; Robin Z Hayeems; Jonathan B Kronick; Anne-Marie Laberge; Julian Little; Aizeddin Mhanni; John J Mitchell; Meranda Nakhla; Murray Potter; Chitra Prasad; Cheryl Rockman-Greenberg; Rebecca Sparkes; Sylvia Stockler; Keiko Ueda; Hilary Vallance; Brenda J Wilson; Pranesh Chakraborty; Beth K Potter
Journal:  Orphanet J Rare Dis       Date:  2019-03-22       Impact factor: 4.123

3.  Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Metabolic Diseases Research Network.

Authors:  Kylie Tingley; Monica Lamoureux; Michael Pugliese; Michael T Geraghty; Jonathan B Kronick; Beth K Potter; Doug Coyle; Kumanan Wilson; Michael Kowalski; Valerie Austin; Catherine Brunel-Guitton; Daniela Buhas; Alicia K J Chan; Sarah Dyack; Annette Feigenbaum; Alette Giezen; Sharan Goobie; Cheryl R Greenberg; Shailly Jain Ghai; Michal Inbar-Feigenberg; Natalya Karp; Mariya Kozenko; Erica Langley; Matthew Lines; Julian Little; Jennifer MacKenzie; Bruno Maranda; Saadet Mercimek-Andrews; Connie Mohan; Aizeddin Mhanni; Grant Mitchell; John J Mitchell; Laura Nagy; Melanie Napier; Amy Pender; Murray Potter; Chitra Prasad; Suzanne Ratko; Ramona Salvarinova; Andreas Schulze; Komudi Siriwardena; Neal Sondheimer; Rebecca Sparkes; Sylvia Stockler-Ipsiroglu; Yannis Trakadis; Lesley Turner; Clara Van Karnebeek; Hilary Vallance; Anthony Vandersteen; Jagdeep Walia; Ashley Wilson; Brenda J Wilson; Andrea C Yu; Nataliya Yuskiv; Pranesh Chakraborty
Journal:  Orphanet J Rare Dis       Date:  2020-04-10       Impact factor: 4.123
  3 in total

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