221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative
Kristi Bentler(University of Minnesota), David Kronn(New York Medical College), Rani K. Singh(Emory University), Mathew J. Edick(Michigan Public Health Institute), Lauren Dwyer, Sally J. Hiner(Michigan Public Health Institute), Bryan E. Hainline(Indiana University Health), Sara A. Elsbecker(University of Minnesota), Cynthia A. Cameron(Michigan Public Health Institute), Machelle Dawson, Jerry Vockley(Pittsburgh Public Schools), Shaohui Zhai(Michigan Public Health Institute), Ada Hamosh(Johns Hopkins University), Esperanza Font–Montgomery(National Human Genome Research Institute), Susan Sheley Romie(University of Minnesota), Priya S. Kishnani(Duke Medical Center), Dawn Peck(University of Missouri Health System), Emily Phillips(University of Iowa Health Care), Dwight D. Koeberl(Duke Medical Center), Georgianne L. Arnold(University of Rochester Medical Center), Melinda Dodge(Children's Hospital Colorado), Sangeetha Lakshman(Emory University), William B. Rizzo, Susan Berry(University of Minnesota), Yong‐hui Jiang(Duke University), Hilary J. Vernon(Johns Hopkins University), N. Smith, George Hoganson(Javon Bea Hospital-Rockton), Susan A. Berry(University of Minnesota), Ayesha Ahmad(Jawaharlal Nehru Medical College Hospital), Cecilia Rajakaruna, Nancy Ambrose, Alvaro Serrano Russi(University of Iowa Health Care), Sheela Shrestha, Adrya Stembridge(Emory University), Loren Peña(Cincinnati Children's Hospital Medical Center), Clare Edano(Lurie Children's Hospital), Sarah G. Hainline(Vanderbilt University Medical Center), Sue Lipinski, Gerald L. Feldman, Janet A. Thomas(University of Colorado Denver), Paul A. Levy, Barbara K. Burton(Women & Children's Hospital of Buffalo), Alexander Asamoah(University of Louisville), Kara Goodin, Kelly A. Jackson(Centers for Disease Control and Prevention)
Cited by 21
Related Papers
De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome
|Nature Genetics|1997|875
Cockayne syndrome: Review of 140 cases
|American Journal of Medical Genetics|1992|807
Phenylalanine hydroxylase deficiency: diagnosis and management guideline
|Genetics in Medicine|2014|718