Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Daniel EJP"'
Autor:
Daniel EJP; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Edmondson AC; Department of Pediatrics, Division of Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Argon Y; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Alsharhan H; Department of Pediatrics, College of Medicine, Kuwait University, Jabriya, Kuwait., Lam C; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA., Freeze HH; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA., He M; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2024 Jul; Vol. 47 (4), pp. 766-777. Date of Electronic Publication: 2024 Apr 10.
Autor:
Starosta RT; Division of Medical Genetics and Genomics, Washington University School of Medicine, St. Louis, MO, USA; Division of Clinical Genetics and Metabolism, University of Colorado Anschutz, Aurora, CO, USA; Graduate Program in Science: Gastroenterology and Hepatology, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil. Electronic address: RODRIGO.STAROSTA@cuanschutz.edu., Lee AJ; Division of Medical Genetics and Genomics, Washington University School of Medicine, St. Louis, MO, USA., Toolan ER; Division of Medical Genetics and Genomics, Washington University School of Medicine, St. Louis, MO, USA., He M; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Wongkittichote P; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand., Daniel EJP; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Radenkovic S; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Budhraja R; Department of Pathology and Laboratory Medicine, Mayo Clinic, Rochester, MN, USA., Pandey A; Department of Pathology and Laboratory Medicine, Mayo Clinic, Rochester, MN, USA., Sharma J; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., Morava E; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Nguyen H; Division of Medical Genetics and Genomics, Washington University School of Medicine, St. Louis, MO, USA., Dickson PI; Division of Medical Genetics and Genomics, Washington University School of Medicine, St. Louis, MO, USA.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2024 Jun; Vol. 142 (2), pp. 108488. Date of Electronic Publication: 2024 May 09.
Autor:
Martínez Duncker I; Laboratorio de Glicobiología Humana y Diagnóstico Molecular, Centro de Investigación en Dinámica Celular, Instituto de Investigación en Ciencias Básicas y Aplicadas, Universidad Autónoma del Estado de Morelos, Cuernavaca, Mexico., Mata-Salgado D; Laboratorio de Glicobiología Humana y Diagnóstico Molecular, Centro de Investigación en Dinámica Celular, Instituto de Investigación en Ciencias Básicas y Aplicadas, Universidad Autónoma del Estado de Morelos, Cuernavaca, Mexico., Shammas I; Department of Clinical Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States., Ranatunga W; Department of Clinical Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States., Daniel EJP; Palmieri Metabolic Disease Laboratory, Children's Hospital of Philadelphia, Philadelphia, PA, United States., Cruz Muñoz ME; Laboratorio de Inmunología Molecular, Facultad de Medicina, Universidad Autónoma del Estado de Morelos, Cuernavaca, Mexico., Abreu M; Genos Médica, Ciudad de México, Mexico., Mora-Montes H; Departamento de Biología, División de Ciencias Naturales y Exactas, Campus Guanajuato, Universidad de Guanajuato, Guanajuato, Mexico., He M; Palmieri Metabolic Disease Laboratory, Children's Hospital of Philadelphia, Philadelphia, PA, United States., Morava E; Department of Clinical Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, United States., Zafra de la Rosa G; Genetics Service, Cancer Center Tec100, Querétaro, Mexico.
Publikováno v:
Frontiers in genetics [Front Genet] 2024 May 06; Vol. 15, pp. 1363558. Date of Electronic Publication: 2024 May 06 (Print Publication: 2024).
Autor:
Alharbi H; Department of Pediatrics, Faculty of Medicine, University of Tabuk, Tabuk, Saudi Arabia.; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Daniel EJP; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Thies J; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, Washington, USA., Chang I; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA., Goldner DL; Division of Pediatric Gastroenterology, Hepatology and Nutrition, Columbia University Medical Center, New York, New York, USA., Ng BG; Human Genetics Program, Sanford Burnham Prebys, La Jolla, California, USA., Witters P; Department of Pediatric Gastroenterology, Hepatology and Nutrition, Center for Metabolic Diseases, University Hospital Leuven, Leuven, Belgium.; Department of Development and Regeneration, Faculty of Medicine, KU Leuven, University Hospitals Leuven, Leuven, Belgium., Aqul A; Division of Pediatric Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, University of Texas Southwestern/Children's Medical Center, Dallas, Texas, USA., Velez-Bartolomei F; Genetics Section, San Jorge Children and Women's Hospital in San Juan, San Juan, Puerto Rico, USA.; Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital and Stanford University, Stanford, California, USA., Enns GM; Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital and Stanford University, Stanford, California, USA., Hsu E; Division of Gastroenterology and Hepatology, Department of Pediatrics, Seattle Children's Hospital, University of Washington School of Medicine, Seattle, Washington, USA., Kichula E; Division of Neurology, Departments of Pediatrics and Neurology, Children's Hospital of Philadelphia and the Perelman School of Medicine, Philadelphia, Pennsylvania, USA., Lee E; Genetic Services, Kaiser Permanente of Washington, Seattle, Washington, USA., Lourenco C; Faculdade de Medicina de São José do Rio Preto (FAMERP), São Jose do Rio Preto - São Paulo, Brazil.; Personalized Medicine area, Special Education Sector at DLE/Grupo Pardini, Belo Horizonte - MG, Brazil., Poskanzer SA; St. Luke's Health System, Boise, Idaho, USA.; Department of Pediatrics, School of Medicine, University of Washington, Seattle, Washington, USA., Rasmussen S; Transplant Center, Department of Surgery, Seattle Children's Hospital University of Washington School of Medicine Seattle, Seattle, Washington, USA., Saarela K; Division of Gastroenterology and Hepatology, Department of Pediatrics, Seattle Children's Hospital, University of Washington School of Medicine, Seattle, Washington, USA., Wang YM; Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital, Cincinnati, Ohio, USA.; Department of Pediatrics, University of Cincinnati, Cincinnati, Ohio, USA., Raymond KM; Department of Laboratory Medicine and Pathology, Laboratory Genetics and Genomics, Mayo Clinic, Rochester, Minnesota, USA., Schultz MJ; Department of Laboratory Medicine and Pathology, Laboratory Genetics and Genomics, Mayo Clinic, Rochester, Minnesota, USA., Freeze HH; Human Genetics Program, Sanford Burnham Prebys, La Jolla, California, USA., Lam C; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA., Edmondson AC; Department of Pediatrics, Division of Human Genetics, Section of Metabolism, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., He M; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2023 Mar; Vol. 46 (2), pp. 300-312. Date of Electronic Publication: 2023 Jan 29.
Autor:
Elsharkawi I; Division of Genetics and Genomic Medicine, Department of Pediatrics, St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, Missouri, USA.; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Wongkittichote P; Division of Genetics and Genomic Medicine, Department of Pediatrics, St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, Missouri, USA., Daniel EJP; Palmieri Metabolic Disease Laboratory, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Starosta RT; Division of Genetics and Genomic Medicine, Department of Pediatrics, St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, Missouri, USA., Ueda K; Division of Pediatric Neurology, Department of Neurology, St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, Missouri, USA., Ng BG; Human Genetics Program, Sanford Children's Health Research Center, La Jolla, California, USA., Freeze HH; Human Genetics Program, Sanford Children's Health Research Center, La Jolla, California, USA., He M; Palmieri Metabolic Disease Laboratory, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Shinawi M; Division of Genetics and Genomic Medicine, Department of Pediatrics, St. Louis Children's Hospital, Washington University School of Medicine, St. Louis, Missouri, USA.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2023 Jan; Vol. 46 (1), pp. 92-100. Date of Electronic Publication: 2022 Oct 17.
Autor:
Albokhari D; Department of Pediatrics, Division of Human Genetics, Section of Metabolism, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Taibah University College of Medicine, Medina, Saudi Arabia., Ng BG; Human Genetics Program, Sanford Burnham Prebys, La Jolla, California, USA., Guberinic A; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA., Daniel EJP; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Engelhardt NM; Department of Pediatrics, Division of Human Genetics, Section of Metabolism, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Barone R; Department of Clinical and Experimental Medicine, Division of Child Neurology and Psychiatry, University of Catania, Catania, Italy., Fiumara A; Department of Clinical and Experimental Medicine, Pediatric Clinic, University of Catania, Catania, Italy., Garavelli L; Medical Genetics Unit, Mother and Child Department, Local Health Authority (AUSL) of Reggio Emilia Research Unit (IRCCS), Arcispedale Santa Maria Nuova, Reggio Emilia, Italy., Trimarchi G; Medical Genetics Unit, Mother and Child Department, Local Health Authority (AUSL) of Reggio Emilia Research Unit (IRCCS), Arcispedale Santa Maria Nuova, Reggio Emilia, Italy., Wolfe L; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, USA., Raymond KM; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Morava E; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA., He M; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Freeze HH; Human Genetics Program, Sanford Burnham Prebys, La Jolla, California, USA., Lam C; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA.; Center of Integrated Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA., Edmondson AC; Department of Pediatrics, Division of Human Genetics, Section of Metabolism, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2022 Sep; Vol. 45 (5), pp. 969-980. Date of Electronic Publication: 2022 Jun 30.
Autor:
González-Domínguez CA; Laboratorio de Glicobiología Humana y Diagnóstico Molecular, Centro de Investigación en Dinámica Celular, Instituto de Investigación en Ciencias Básicas y Aplicadas, Universidad Autónoma del Estado de Morelos, Cuernavaca, Mexico.; Instituto de Biotecnología, Universidad Nacional Autónoma de México, Cuernavaca, Mexico., Fiesco-Roa MO; Programa de Maestría y Doctorado en Ciencias Médicas, Universidad Nacional Autónoma de México (UNAM), Ciudad Universitaria, Mexico City, Mexico.; Laboratorio de Citogenética, Instituto Nacional de Pediatría, Mexico City, Mexico., Gómez-Carmona S; Centro de Rehabilitación e Inclusión Infantil Teletón, Tuxtla Gutiérrez, Mexico., Kleinert-Altamirano API; Centro de Rehabilitación e Inclusión Infantil Teletón, Tuxtla Gutiérrez, Mexico.; Hospital Regional de Alta Especialidad Ciudad Salud, Tapachula, Mexico., He M; Palmieri Metabolic Disease Laboratory, Children's Hospital of Philadelphia, Philadelphia, PA, United States., Daniel EJP; Palmieri Metabolic Disease Laboratory, Children's Hospital of Philadelphia, Philadelphia, PA, United States., Raymond KM; Department of Laboratory Medicine and Pathology, Laboratory Genetics and Genomics, Mayo Clinic, Rochester, MN, United States., Abreu-González M; Genos Médica, Mexico City, Mexico., Manrique-Hernández S; Laboratorio de Glicobiología Humana y Diagnóstico Molecular, Centro de Investigación en Dinámica Celular, Instituto de Investigación en Ciencias Básicas y Aplicadas, Universidad Autónoma del Estado de Morelos, Cuernavaca, Mexico.; Instituto de Biotecnología, Universidad Nacional Autónoma de México, Cuernavaca, Mexico., González-Jaimes A; Laboratorio de Glicobiología Humana y Diagnóstico Molecular, Centro de Investigación en Dinámica Celular, Instituto de Investigación en Ciencias Básicas y Aplicadas, Universidad Autónoma del Estado de Morelos, Cuernavaca, Mexico., Salinas-Marín R; Laboratorio de Glicobiología Humana y Diagnóstico Molecular, Centro de Investigación en Dinámica Celular, Instituto de Investigación en Ciencias Básicas y Aplicadas, Universidad Autónoma del Estado de Morelos, Cuernavaca, Mexico., Molina-Garay C; Laboratorio de Diagnóstico Genómico, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Mexico City, Mexico., Carrillo-Sánchez K; Laboratorio de Diagnóstico Genómico, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Mexico City, Mexico., Flores-Lagunes LL; Laboratorio de Diagnóstico Genómico, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Mexico City, Mexico., Jiménez-Olivares M; Laboratorio de Diagnóstico Genómico, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Mexico City, Mexico., Muñoz-Rivas A; Laboratorio de Diagnóstico Genómico, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Mexico City, Mexico., Cruz-Muñoz ME; Laboratorio de Inmunología Molecular, Facultad de Medicina, Universidad Autónoma del Estado de Morelos, Cuernavaca, Mexico., Ruíz-García M; Departamento de Neurología, Instituto Nacional de Pediatría, Mexico City, Mexico., Freeze HH; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, United States., Mora-Montes HM; Departamento de Biología, División de Ciencias Naturales y Exactas, Universidad de Guanajuato, Guanajuato, Mexico., Alaez-Verson C; Laboratorio de Diagnóstico Genómico, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Mexico City, Mexico., Martínez-Duncker I; Laboratorio de Glicobiología Humana y Diagnóstico Molecular, Centro de Investigación en Dinámica Celular, Instituto de Investigación en Ciencias Básicas y Aplicadas, Universidad Autónoma del Estado de Morelos, Cuernavaca, Mexico.; Sociedad Latinoamericana de Glicobiología A.C, Cuernavaca, Mexico.
Publikováno v:
Frontiers in genetics [Front Genet] 2021 Sep 30; Vol. 12, pp. 777731. Date of Electronic Publication: 2021 Sep 30 (Print Publication: 2021).
Autor:
González-Domínguez CA; Laboratorio de Glicobiología Humana y Diagnóstico Molecular, Centro de Investigación en Dinámica Celular, Instituto de Investigación en Ciencias Básicas y Aplicadas, Universidad Autónoma del Estado de Morelos, Cuernavaca, Mexico.; Instituto de Biotecnología, Universidad Nacional Autónoma de México, Cuernavaca, Mexico., Fiesco-Roa MO; Programa de Maestría y Doctorado en Ciencias Médicas, Universidad Nacional Autónoma de México (UNAM), Ciudad Universitaria, Mexico City, Mexico.; Laboratorio de Citogenética, Instituto Nacional de Pediatría, Mexico City, Mexico., Gómez-Carmona S; Centro de Rehabilitación e Inclusión Infantil Teletón, Tuxtla Gutiérrez, Mexico., Kleinert-Altamirano API; Centro de Rehabilitación e Inclusión Infantil Teletón, Tuxtla Gutiérrez, Mexico.; Palmieri Metabolic Disease Laboratory, Children's Hospital of Philadelphia, Philadelphia, PA, United States., He M; Hospital Regional de Alta Especialidad Ciudad Salud, Tapachula, Mexico., Daniel EJP; Hospital Regional de Alta Especialidad Ciudad Salud, Tapachula, Mexico., Raymond KM; Department of Laboratory Medicine and Pathology, Laboratory Genetics and Genomics, Mayo Clinic, Rochester, MN, United States., Abreu-González M; Genos Médica, Mexico City, Mexico., Manrique-Hernández S; Laboratorio de Glicobiología Humana y Diagnóstico Molecular, Centro de Investigación en Dinámica Celular, Instituto de Investigación en Ciencias Básicas y Aplicadas, Universidad Autónoma del Estado de Morelos, Cuernavaca, Mexico.; Instituto de Biotecnología, Universidad Nacional Autónoma de México, Cuernavaca, Mexico., González-Jaimes A; Laboratorio de Glicobiología Humana y Diagnóstico Molecular, Centro de Investigación en Dinámica Celular, Instituto de Investigación en Ciencias Básicas y Aplicadas, Universidad Autónoma del Estado de Morelos, Cuernavaca, Mexico., Salinas-Marín R; Laboratorio de Glicobiología Humana y Diagnóstico Molecular, Centro de Investigación en Dinámica Celular, Instituto de Investigación en Ciencias Básicas y Aplicadas, Universidad Autónoma del Estado de Morelos, Cuernavaca, Mexico., Molina-Garay C; Laboratorio de Diagnóstico Genómico, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Mexico City, Mexico., Carrillo-Sánchez K; Laboratorio de Diagnóstico Genómico, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Mexico City, Mexico., Flores-Lagunes LL; Laboratorio de Diagnóstico Genómico, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Mexico City, Mexico., Jiménez-Olivares M; Laboratorio de Diagnóstico Genómico, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Mexico City, Mexico., Muñoz-Rivas A; Laboratorio de Diagnóstico Genómico, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Mexico City, Mexico., Cruz-Muñoz ME; Laboratorio de Inmunología Molecular, Facultad de Medicina, Universidad Autónoma del Estado de Morelos, Cuernavaca, Mexico., Ruíz-García M; Departamento de Neurología, Instituto Nacional de Pediatría, Mexico City, Mexico., Freeze HH; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA, United States., Mora-Montes HM; Departamento de Biología, División de Ciencias Naturales y Exactas, Universidad de Guanajuato, Guanajuato, Mexico., Alaez-Verson C; Laboratorio de Diagnóstico Genómico, Instituto Nacional de Medicina Genómica, Secretaría de Salud, Mexico City, Mexico., Martínez-Duncker I; Laboratorio de Glicobiología Humana y Diagnóstico Molecular, Centro de Investigación en Dinámica Celular, Instituto de Investigación en Ciencias Básicas y Aplicadas, Universidad Autónoma del Estado de Morelos, Cuernavaca, Mexico.; Sociedad Latinoamericana de Glicobiología A.C., Cuernavaca, Mexico.
Publikováno v:
Frontiers in genetics [Front Genet] 2021 Sep 09; Vol. 12, pp. 744884. Date of Electronic Publication: 2021 Sep 09 (Print Publication: 2021).
Autor:
Alsharhan H; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait., He M; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Edmondson AC; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Daniel EJP; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Chen J; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Donald T; Pediatrics Ward, Grenada General Hospital, St. George's, Grenada.; Clinical Teaching Unit, St. George's University, St. George's, Grenada., Bakhtiari S; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.; Departments of Child Health, Neurology, Cellular & Molecular Medicine and Program in Genetics, University of Arizona College of Medicine, Phoenix, Arizona, USA., Amor DJ; Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, and Department of Pediatrics, University of Melbourne, Melbourne, Australia., Jones EA; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK., Vassallo G; Department of Pediatric Neurology, Royal Manchester Children's Hospital, Manchester University Foundation Trust, Manchester, UK., Vincent M; Service de génétique médicale, CHU de Nantes, Nantes, France., Cogné B; Service de génétique médicale, CHU de Nantes, Nantes, France., Deb W; Service de génétique médicale, CHU de Nantes, Nantes, France., Werners AH; Department of Anatomy, Physiology and Pharmacology, St. George University School of Veterinary Medicine, St. George's, Grenada., Jin SC; Department of Genetics and Pediatrics, Washington University, St. Louis, Missouri, USA., Bilguvar K; Department of Genetics, Yale Center for Genome Analysis, Yale School of Medicine, New Haven, Connecticut, USA., Christodoulou J; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, and Department of Pediatrics, University of Melbourne, Melbourne, Australia.; Discipline of Child & Adolescent Health, Sydney Medical School, University of Sydney, Sydney, Australia., Webster RI; Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, New South Wales, Australia., Yearwood KR; St. George's University, University Health Services, St. George's, Grenada., Ng BG; Human Genetics Program, Sanford Children's Health Research Center, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA., Freeze HH; Human Genetics Program, Sanford Children's Health Research Center, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA., Kruer MC; Pediatric Movement Disorders Program, Division of Pediatric Neurology, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, Arizona, USA.; Departments of Child Health, Neurology, Cellular & Molecular Medicine and Program in Genetics, University of Arizona College of Medicine, Phoenix, Arizona, USA., Li D; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Raymond KM; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Bhoj EJ; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Sobering AK; Department of Biochemistry, St. George's University School of Medicine, St. George's, Grenada.; Windward Islands Research and Education Foundation, True Blue, St. George's, Grenada.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2021 Jul; Vol. 44 (4), pp. 1001-1012. Date of Electronic Publication: 2021 Mar 26.
Autor:
Alsharhan H; Department of Pediatrics, Division of Human Genetics, Section of Metabolism, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait., Ng BG; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA., Daniel EJP; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Friedman J; Division of Neurosciences and Pediatrics, University of California San Diego and Rady Children's Hospital, San Diego, California, USA., Pivnick EK; Department of Pediatrics, Division of Medical Genetics, University of Tennessee Health Science Center (UTHSC), Memphis, Tennessee, USA., Al-Hashem A; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Faqeih EA; Section of Medical Genetics, Children's Specialist Hospital King Fahad Medical City, Riyadh, Saudi Arabia., Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics Laboratories, Houston, Texas, USA., Engelhardt NM; Department of Pediatrics, Division of Human Genetics, Section of Metabolism, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Keller KN; Department of Pediatrics, Division of Human Genetics, Section of Metabolism, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Chen J; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Mazzeo PA; Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics Laboratories, Houston, Texas, USA., Bamshad MJ; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA.; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.; Brotman-Baty Institute, Seattle, Washington, USA., Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.; Brotman-Baty Institute, Seattle, Washington, USA., Raymond KM; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Freeze HH; Human Genetics Program, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA., He M; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Edmondson AC; Department of Pediatrics, Division of Human Genetics, Section of Metabolism, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Lam C; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, Washington, USA.; Center of Integrated Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.
Publikováno v:
Journal of inherited metabolic disease [J Inherit Metab Dis] 2021 Jul; Vol. 44 (4), pp. 987-1000. Date of Electronic Publication: 2021 Mar 01.