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Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association.
Alharbi, Hana; Daniel, Earnest James Paul; Thies, Jenny; Chang, Irene; Goldner, Dana L; Ng, Bobby G; Witters, Peter; Aqul, Amal; Velez-Bartolomei, Frances; Enns, Gregory M; Hsu, Evelyn; Kichula, Elizabeth; Lee, Esther; Lourenco, Charles; Poskanzer, Sheri A; Rasmussen, Sara; Saarela, Katelyn; Wang, YunZu M; Raymond, Kimiyo M; Schultz, Matthew J; Freeze, Hudson H; Lam, Christina; Edmondson, Andrew C; He, Miao.
Afiliación
  • Alharbi H; Department of Pediatrics, Faculty of Medicine, University of Tabuk, Tabuk, Saudi Arabia.
  • Daniel EJP; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Thies J; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Chang I; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, Washington, USA.
  • Goldner DL; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA.
  • Ng BG; Division of Pediatric Gastroenterology, Hepatology and Nutrition, Columbia University Medical Center, New York, New York, USA.
  • Witters P; Human Genetics Program, Sanford Burnham Prebys, La Jolla, California, USA.
  • Aqul A; Department of Pediatric Gastroenterology, Hepatology and Nutrition, Center for Metabolic Diseases, University Hospital Leuven, Leuven, Belgium.
  • Velez-Bartolomei F; Department of Development and Regeneration, Faculty of Medicine, KU Leuven, University Hospitals Leuven, Leuven, Belgium.
  • Enns GM; Division of Pediatric Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, University of Texas Southwestern/Children's Medical Center, Dallas, Texas, USA.
  • Hsu E; Genetics Section, San Jorge Children and Women's Hospital in San Juan, San Juan, Puerto Rico, USA.
  • Kichula E; Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital and Stanford University, Stanford, California, USA.
  • Lee E; Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital and Stanford University, Stanford, California, USA.
  • Lourenco C; Division of Gastroenterology and Hepatology, Department of Pediatrics, Seattle Children's Hospital, University of Washington School of Medicine, Seattle, Washington, USA.
  • Poskanzer SA; Division of Neurology, Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia and the Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
  • Rasmussen S; Genetic Services, Kaiser Permanente of Washington, Seattle, Washington, USA.
  • Saarela K; Faculdade de Medicina de São José do Rio Preto (FAMERP), São Jose do Rio Preto - São Paulo, Brazil.
  • Wang YM; Personalized Medicine area, Special Education Sector at DLE/Grupo Pardini, Belo Horizonte - MG, Brazil.
  • Raymond KM; St. Luke's Health System, Boise, Idaho, USA.
  • Schultz MJ; Department of Pediatrics, School of Medicine, University of Washington, Seattle, Washington, USA.
  • Freeze HH; Transplant Center, Department of Surgery, Seattle Children's Hospital University of Washington School of Medicine Seattle, Seattle, Washington, USA.
  • Lam C; Division of Gastroenterology and Hepatology, Department of Pediatrics, Seattle Children's Hospital, University of Washington School of Medicine, Seattle, Washington, USA.
  • Edmondson AC; Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital, Cincinnati, Ohio, USA.
  • He M; Department of Pediatrics, University of Cincinnati, Cincinnati, Ohio, USA.
J Inherit Metab Dis ; 46(2): 300-312, 2023 03.
Article en En | MEDLINE | ID: mdl-36651831
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastornos Congénitos de Glicosilación / ATPasas de Translocación de Protón Vacuolares Tipo de estudio: Risk_factors_studies Límite: Humans Idioma: En Revista: J Inherit Metab Dis Año: 2023 Tipo del documento: Article País de afiliación: Arabia Saudita Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Trastornos Congénitos de Glicosilación / ATPasas de Translocación de Protón Vacuolares Tipo de estudio: Risk_factors_studies Límite: Humans Idioma: En Revista: J Inherit Metab Dis Año: 2023 Tipo del documento: Article País de afiliación: Arabia Saudita Pais de publicación: Estados Unidos