Genetics in Medicine Open (Jan 2023)
P360: Phenotypic and molecular characterization of a cohort of patients with primary CoQ10 deficiency caused by pathogenic variants in COQ7
- Parith Wongkittichote,
- Laura Duque Lasio,
- Martina Magistrati,
- Sheel Pathak,
- Brooke Sample,
- Daniel Carvalho,
- Adrianna Banzzatto Ortega,
- Claudio de Gusmao,
- Matheus Castro,
- Tomi Toler,
- Emanuele Bellacchio,
- Cristina Dallabona,
- Marwan Shinawi
Affiliations
- Parith Wongkittichote
- Children's Hospital of Philadelphia, Philadelphia, PA
- Laura Duque Lasio
- Washington University School of Medicine, St Louis, MO
- Martina Magistrati
- University of Parma, Parma, Italy
- Sheel Pathak
- Washington University School of Medicine, St Louis, MO
- Brooke Sample
- HSHS St. Vincent Hospital, Green Bay, WI
- Daniel Carvalho
- SARAH Network of Rehabilitation Hospitals, Brasilia, Brazil
- Adrianna Banzzatto Ortega
- Hospital Infantil Pequeno Príncipe, Curitiba, Brazil
- Claudio de Gusmao
- Mendelics Genomic Analyses, Sao Paulo, Brazil
- Matheus Castro
- Mendelics Genomic Analyses, Sao Paulo, Brazil
- Tomi Toler
- Washington University School of Medicine, St Louis, MO
- Emanuele Bellacchio
- Bambino Gesù Children's Hospital, IRCCS, Rome, Italy
- Cristina Dallabona
- University of Parma, Parma, Italy
- Marwan Shinawi
- Washington University School of Medicine, St Louis, MO
- Journal volume & issue
-
Vol. 1,
no. 1
p. 100388
