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Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning.
Sajeev, Mona; Chin, Sharon; Ho, Gladys; Bennetts, Bruce; Sankaran, Bindu Parayil; Gutierrez, Bea; Devanapalli, Beena; Tolun, Adviye Ayper; Wiley, Veronica; Fletcher, Janice; Fuller, Maria; Balasubramaniam, Shanti.
Affiliation
  • Sajeev M; Genetic Metabolic Disorders Service, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia.
  • Chin S; Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, North Adelaide, SA 5006, Australia.
  • Ho G; Department of Molecular Genetics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia.
  • Bennetts B; Discipline of Genetic Medicine, Sydney Medical School, The University of Sydney, Sydney, NSW 2006, Australia.
  • Sankaran BP; Department of Molecular Genetics, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia.
  • Gutierrez B; Discipline of Genetic Medicine, Sydney Medical School, The University of Sydney, Sydney, NSW 2006, Australia.
  • Devanapalli B; Genetic Metabolic Disorders Service, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia.
  • Tolun AA; The Children's Hospital at Westmead Clinical School, Faculty of Medicine & Health, Sydney Medical School, The University of Sydney, Sydney, NSW 2006, Australia.
  • Wiley V; NSW Biochemical Genetics Service, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia.
  • Fletcher J; NSW Biochemical Genetics Service, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia.
  • Fuller M; Discipline of Genetic Medicine, Sydney Medical School, The University of Sydney, Sydney, NSW 2006, Australia.
  • Balasubramaniam S; NSW Biochemical Genetics Service, Western Sydney Genetics Program, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia.
Int J Neonatal Screen ; 7(2)2021 May 14.
Article in En | MEDLINE | ID: mdl-34069211
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Diagnostic_studies / Prognostic_studies / Screening_studies Language: En Journal: Int J Neonatal Screen Year: 2021 Document type: Article Affiliation country: Australia Country of publication: Switzerland
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Diagnostic_studies / Prognostic_studies / Screening_studies Language: En Journal: Int J Neonatal Screen Year: 2021 Document type: Article Affiliation country: Australia Country of publication: Switzerland