Genetics in Medicine Open (Jan 2025)
P398: An unusual cause of hexokinase 1 deficiency
- Gonench Kilich,
- Kelly Maurer,
- Tanaya Jadhav,
- Tejas Jammihal,
- Erica Schindewolf,
- Laura Conlin,
- Kosuke Izumi,
- Helge Hartung,
- Kelly Hassey,
- Anna Raper,
- Marilyn Li,
- Bertil Glader,
- Ramakrishnan Rajagopalan,
- Kathleen Sullivan
Affiliations
- Gonench Kilich
- Division of Allergy and Immunology, Department of Pediatrics, The Children’s Hospital of Philadelphia
- Kelly Maurer
- Division of Allergy and Immunology, Department of Pediatrics, The Children’s Hospital of Philadelphia
- Tanaya Jadhav
- Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children’s Hospital of Philadelphia
- Tejas Jammihal
- Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children’s Hospital of Philadelphia
- Erica Schindewolf
- Division of Allergy and Immunology, Department of Pediatrics, The Children’s Hospital of Philadelphia
- Laura Conlin
- Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children’s Hospital of Philadelphia
- Kosuke Izumi
- Division of Genetics and Metabolism, Department of Pediatrics, University of Texas Southwestern Medical Center
- Helge Hartung
- Clinic for Special Children
- Kelly Hassey
- Division of Allergy and Immunology, Department of Pediatrics, The Children’s Hospital of Philadelphia
- Anna Raper
- Hospital of the University of Pennsylvania
- Marilyn Li
- Department of Pathology and Laboratory Medicine, Department of Pediatrics, Center for Childhood Cancer Research, The Children’s Hospital of Philadelphia, University of Pennsylvania, Perelman School of Medicine
- Bertil Glader
- Stanford University School of Medicine
- Ramakrishnan Rajagopalan
- Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children’s Hospital of Philadelphia, and Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania
- Kathleen Sullivan
- Division of Allergy and Immunology, Department of Pediatrics, The Children’s Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania
- DOI
- https://doi.org/10.1016/j.gimo.2025.103265
- Journal volume & issue
-
Vol. 3
p. 103265
Abstract
No abstracts available.