Diagnosis of LCHAD/TFP deficiency in an at risk newborn using umbilical cord blood acylcarnitine analysis

Molecular Genetics and Metabolism Reports - Tập 10 - Trang 8-10 - 2017
Donna B. Raval1, Kristina P. Cusmano-Ozog2, Omar Ayyub2, Callie Jenevein3, Laura H. Kofman4, Brendan Lanpher5, Natalie Hauser3, Debra S. Regier2
1Maryland Perinatal Associates, Takoma Park, MD, USA
2Genetics and Metabolism, Children's National Health System, Washington, DC,USA
3Inova Translational Medicine Institute, Division of Medical Genomics, Falls Church, VA, USA
4Department of Medical Genetics, Kaiser Permanente Mid-Atlantic States, McLean, VA USA
5Department of Medical Genetics, Mayo Clinic, Rochester, MN, USA

Tài liệu tham khảo

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