MOLECULAR GENETICS AND METABOLISM

作者Kirkland A. Wilson; Yun Zhou; Gary Cunningham; Matthew S. Bramble; Sahana Kumar; Kojo Danso; Braelynn Tomanio; Kimberly Chapman; Marshall Summar; Hilaire Musasa Hanshi-Hatuhu; Desire Tshala-Katumbay; Dieudonne Mumba-Ngoyi; Debra S. Regier

作者单位Department of Genetics and Genome Sciences, Case Western Reserve University School of Medicine, Cleveland, OH, USA; Center for Human Genetics, University Hospitals, Cleveland, OH, USA; Center for Precision Medicine and Genomics, Children's Research Institute, Children's National Hospital, Washington, DC, USA; Division of Medical Genetics, Children's Hospital Los Angeles, Los Angeles, California, USA; Uncommon Cures, Chevy Chase, MD, USA; Department of Neurology, Kinshasa University, Kinshasa, Democratic Republic of the Congo; Department of Neurology, Oregon Health & Science University, Portland, OR, USA; Institut National de Recherche Biomédicale (INRB), Kinshasa, Democratic Republic of the Congo; Division of Genetics, Department of Pediatrics, Atrium Health-Levine Children's Hospital, Wake Forest University School of Medicine, Charlotte, NC, USA

作者Molly M. Crenshaw; Erica B. Nading; Jamie Mills; Erin Huggins; Natalie Krohl; Deeksha Bali; Sarah P. Young; Ashlee R. Stiles; Kimberly Blake; Lara Percenti; Dee Pettit; Sam Freeman; Scott Shone; Edwin C. Ferren; Katherine J. Dempsey; Kayleigh Bright; Catherine Rehder; Priya S. Kishnani; Jennifer L. Cohen

作者单位Division of Genetics & Metabolism, Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA; Division of Public Health, State Laboratory of Public Health, NC Department of Health and Human Services, Raleigh, NC, USA; Biochemical Genetics Laboratory, Duke University Health System, Durham, NC, USA; Division of Child and Family Well-Being, Health, NC Department of Health and Human Services, Raleigh, NC, USA; Division of Genetics, Department of Pediatrics, Atrium Health Levine Children's Hospital, Charlotte, NC, USA; Molecular Diagnostics Laboratory, Department of Pathology, Duke University Health System, Durham, NC, USA

作者Betul Gemici Karaaslan; Ayse Cigdem Aktuglu Zeybek; Nihan Burtecene; Meltem Gokden; Esra Isat; Mehmet Serif Cansever; Haluk Cokuğras; Duhan Hopurcuoglu; Gökçe Nurdan Cengiz; Birol Topcu; Esra Yucel; Tanyel Zubarioğlu; Ertugrul Kiykim; Ayca Kiykim

作者单位Cerrahpasa Faculty of Medicine, Department of Pediatrics, Division of Immunology and Allergy, Istanbul University-Cerrahpasa, Istanbul, Turkey; Cerrahpaşa Faculty of Medicine, Pediatric Allergy and Immunology Research Laboratory, Istanbul University-Cerrahpaşa, Istanbul, Turkey; Cerrahpasa Faculty of Medicine, Department of Pediatrics, Division of Nutrition and Metabolism, Istanbul University-Cerrahpasa, Istanbul, Turkey; Cerrahpaşa Faculty of Medicine, Research Laboratory of Metabolism, Istanbul University-Cerrahpaşa, Istanbul, Turkey; Cerrahpasa Faculty of Medicine, Department of Pediatrics, Istanbul University-Cerrahpasa, Istanbul, Turkey; Department of Medical Services and Techniques, Vocational School of Health Services, Istanbul University-Cerrahpaşa, Istanbul, Turkey; Department of Biostatistics, Namik Kemal University, Tekirdag, Turkey; Istanbul University-Cerrahpasa, Institute of Pulmonology and Tuberculosis, Department of Pulmonary Immunology, Istanbul, Turkey

作者Shelly Goomber; Erin Huggins; Catherine W. Rehder; Gregory E. Crawford; Seung-Hye Jung; Jessica Doxey; Apoorva K. Iyengar; Erica B. Nading; Priya S. Kishnani; Deeksha S. Bali

作者单位Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, United States; Department of Pathology, Duke University Medical Center, Durham, NC, United States; Biochemical Genetics Laboratory, Duke University Medical Center, Durham, NC, United States

作者Renuka Raman; Jason Winsor; Kendall C. Case; Jixiang Xia; Thomas Daly; Craig Benscics; Devin Turner; Ben Horst; Landon Karustis; Zahra Shahrokh; Magdalena Leszczyniecka; Thomas R. Lane; Sean Ekins

作者单位Collaborations Pharmaceuticals, Inc, Raleigh, NC 27606, USA; Northern Bio, Olthoff Dr., Muskegon, MI 49444, USA; Northern Bio, Portage Rd, Portage, MI 49002, USA; Immunovive LLC, Turnpike Road Suite 1, Chelmsford, MA 01824, USA; STC Biologics, Inc., 330 Nevada Street, Newton, MA 02460, USA

作者Antoine Rivaux; Nathalie Guffon; Cécile Pagan; Anaïs Brassier; François Guérin; Laurent Pasquier; Youssef Sekkach; Babacar Ndiaye; Alain Fouilhoux; Cécile Acquaviva-Bourdain; Séverine Ruet; Roseline Froissart; Magali Pettazzoni

作者单位Department of Biochemistry and Molecular Biology, Inborn Errors of Metabolism Unit, Hospices Civils de Lyon, 69500 Bron, France; National Reference Centre for Hereditary Metabolic Diseases, Hospices Civils de Lyon, 69500 Bron, France; Department of Pediatric Metabolism, Reference Center of Inherited Metabolic Disorders, Hôpital Necker-Enfants Malades, Assistance Publique–Hôpitaux de Paris (AP-HP), Université Paris Cité, 75015 Paris, France; Department of Pediatrics, Groupe Hospitalier Littoral Atlantique, 17000 La Rochelle, France; Clinical Genetics Service, Reference Centre for Rare Intellectual Disabilities, Centre Hospitalier Universitaire de Rennes, 16 Boulevard de Bulgarie, 35203 Rennes, France; Department of Internal Medicine B, Mohammed V Military Teaching Hospital, Rabat, Morocco; Biomedical Laboratory, Institut Pasteur de Dakar, BP 220 Dakar, Senegal

作者Narmene Bensaber; Benny Tran; Lina Rebeiz; Chenqing Wang; Silvia Tortorelli; Lenore K. Yalom; John Trinidad; Laura Wiltsie; Nanda Kerkar; Akshata Moghe; Karl E. Anderson; Rebecca K. Leaf; Amy K. Yeung

作者单位Department of Medicine, Mass General Brigham, 55 Fruit Street, Boston, MA 02114, USA; Cutaneous Biology Research Center, Massachusetts General Hospital, 149 13th Street, Charlestown, MA 02129, USA; Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA; Department of Dermatology, Mass General Brigham, 55 Fruit Street, Boston, MA 02114, USA; Harvard Medical School, 25 Shattuck Street, Boston, MA 02115, USA; Department of Pediatrics, Mass General Brigham, 55 Fruit Street, Boston, MA 02114, USA; Division of Gastroenterology, University of Texas Health Science Center, 6431 Fannin Street, Houston, TX 77030, USA; Division of Gastroenterology, University of Texas Medical Branch, 301 University Boulevard, Galveston, TX 77555, USA

作者Mohamed Kazamel; Brendan McGuire; Robert J. Desnick

作者单位Department of Neurology, University of Alabama at Birmingham, Birmingham, AL, United States of America; Division of Gastroenterology and Hepatology, Department of Medicine, University of Alabama at Birmingham, Birmingham, AL, United States of America; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York City, NY, United States of America

作者Laura Sabina Varela; Viviana Alicia Melito; Fabiana Alejandra Caballero; Marcelo Guolo; Verónica Goñi; Fernando Baccaro; Mariana Agosta; María Pasman; Valeria Pachioli; V. Lucía Tomassi; Ana María Buzaleh; Victoria Estela Parera

作者单位Centro de Investigaciones sobre Porfirinas y Porfirias (CIPYP), UBA- CONICET, Hospital de Clínicas José de San Martín, Av. Córdoba 2351, 1SS, C1120 Cdad Autónoma de Buenos Aires, Argentina; Departamento de Química Biológica, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Av. Int. Cantilo, C1428 Cdad Autónoma de Buenos Aires, Argentina; Hospital Fernández, Av. Cerviño 3356, C1425AGP Cdad Autónoma de Buenos Aires, Argentina; Hospital Rocca, Segurola 1949, C1407AOM Cdad Autónoma de Buenos Aires, Argentina; Hospital Ramos Mejía, Gral. Urquiza 609, C1221ADC Cdad Autónoma de Buenos Aires, Argentina; Universidad Favaloro, Av. Belgrano 1746, C1093 Cdad Autónoma de Buenos Aires, Argentina

作者Si Ding; Lili Hao; Yi Ding; Yuxin Deng; Ting Chen; Xia Zhan; Peng Xu; Chiju Yang; Hui Zou; Yongxing Chen; Shengnan Wu; Yufeng Wang; Min Yang; Lili Liang; Lianshu Han

作者单位Department of Pediatric Infection, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China; Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute of Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai 200092, China; Newborn Screening Center, Jining Maternal and Child Health Care Hospital, Jining 272004, China; Newborn Screening Center, Jinan Maternal and Child Health Care Hospital, Jinan 250001, China; Department of Endocrinology and Metabolism, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou 450006, China; Heze Maternity and Child Healthcare Hospital, Heze 274032, China; Department of Pediatrics, Shengjing Hospital of China Medical University, Shenyang 110004, China