Molecular Genetics and Metabolism Reports

作者Sezai Arslan; Filiz Ekinci Uğan; Oğuzhan Yaralı; Hasan Kahveci

作者单位Department of Inherited Metabolic Diseases, Erzurum City Hospital, Erzurum, Turkey; Department of Nutrition and Dietetics, Erzurum City Hospital, Erzurum, Turkey; Department of Medical Genetics, Erzurum City Hospital, Erzurum, Turkey; Department of Neonatology, University of Health Sciences Erzurum Medical Faculty, Erzurum, Turkey

作者Markey McNutt; Katherine J. Anderson; Ashley Andrews; Erin Cooney; Brittany M. Murray; Michelle Tharp; Erika Vucko; Leah Wessenberg; Kassi Wilson; Derek Wong; Joyanna Hansen; Sarah Rose; Bridget Wardley; Janet A. Thomas

作者单位UT Southwestern Medical Center, Dallas, TX, USA; University of Vermont Health, Burlington, VT, USA; University of Utah, Salt Lake City, UT, USA; University of Texas Medical Branch, Galveston, TX, USA; Boston Children's Hospital, Boston, MA, USA; University of Mississippi Medical Center, Jackson, MS, USA; Ann & Robert H. Lurie Children's Hospital, Chicago, IL, USA; Oregon Health and Science University, Portland, OR, USA; University of South Florida, Tampa, FL, USA; David Geffen School of Medicine at UCLA, Los Angeles, CA, USA; BioMarin Pharmaceutical Inc., Novato, CA, USA; University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO, USA

作者Shuichi Yatsuga

作者单位Department of Pediatrics, Fukuoka University, Fukuoka, Fukuoka, Japan; Department of Medical Genetics, Hakodate Goryoukaku Hospital, Hakodate, Hokkaido, Japan

作者Jie Zhang; Binghe Xiao; Zhiliang Wang; Xiang Li

作者单位Department of Rehabilitation, Huashan Hospital of Fudan University, Shanghai, China; Department of Ophthalmology, Huashan Hospital of Fudan University, Shanghai, China; Department of Neurology, Huashan Hospital of Fudan University, Shanghai, China

作者M. Hsairi; A. Kammoun; H. Fendri; M. Guirat; H. Kammoun; Z. Mnif; L. Gargouri

作者单位Department of Pediatrics B, Hedi Chaker University Hospital, Tunisia; Department of Radiology, Hedi Chaker University Hospital, Tunisia; Department of Human Genetics, Hedi Chaker University Hospital, Tunisia; Faculty of Medicine, University of Sfax, Sfax 3000, Tunisia

作者Sheyda Khalilian; Mohadeseh Fathi; Zahra Farbood; Fatemeh Dehghanian; Marjan Masoudi; Soudeh Ghafouri-Fard; Seyed Alireza Dastgheib; Mohammad Miryounesi

作者单位Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran

作者Karla Cifuentes-Uribe; Nathalie Guffon; Lucie Boulière; Ségolène Turquier; Cécile Acquaviva-Bourdain; Roseline Froissart; Magali Pettazzoni

作者单位National Reference Centre for Hereditary Metabolic Diseases, Hospices Civils de Lyon, France; Department of Biochemistry and Molecular Biology, Lyon University Hospital, France; Department of Pulmonary Function Testing, Louis Pradel Hospital, Hospices Civils de Lyon, France

作者Paola Naal-Chan; Ermilo Echeverria-Ortegon; Jary-Davis Couoh-Castañeda; Jose-Luis Millet-Herrera; Fabiola-Concepcion Solis-Baeza; Myrna-Edith Perez-Garcia; Jorge-Santiago Rivera-Lavalle; Addy-Manuela Castillo-Espinola; Olga-Berenice Reyes-Flores; Felix-Julian Campos-Garcia

作者单位Department of Pediatrics, General Hospital “Dr. Agustin O'Horan”, Servicios de Salud del Instituto Mexicano del Seguro Social para el Bienestar (IMSS-BIENESTAR), Yucatan, Mexico; Center for Evidence-Based Health Research, Marista University, Yucatan, Mexico; Pediatric Cardiology, Unidad Medica de Alta Especialidad, Instituto Mexicano del Seguro Social, Yucatan, Mexico; Department of Genetics, General Hospital “Dr. Agustin O'Horan”, Servicios de Salud del Instituto Mexicano del Seguro Social para el Bienestar (IMSS-BIENESTAR), Yucatan, Mexico

作者Kishore Garapati; Dong-Gi Mun; Rex Devasahayam Arokia Balaya; Mayank Saraswat; Santosh Renuse; Gregory Trahan; Richard K. Kandasamy; David R. Deyle; Akhilesh Pandey

作者单位Manipal Academy of Higher Education (MAHE), Manipal, Karnataka, India; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA; Institute of Bioinformatics, International Technology Park, Bangalore, Karnataka, India; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA

作者Ali Asadi; Seyed Ataollah Sadat Shandiz; Amirhossein Ebrahimi; Zahra Sadat Hosseini; Niyousha Shirsalimi; Hossein Neamatzadeh; Ahmad Ebrahimi

作者单位Department of Biology, CT.C., Islamic Azad University, Tehran, Iran; Department of Computer Engineering, Shiraz University, Shiraz, Iran; Faculty of Medicine, Hamadan University of Medical Sciences, Hamadan, Iran; Department of Art, Faculty of Shariati, National University of Skills, Tehran, Iran; Hematology and Oncology Research Center, Non-Communicable Diseases Research Institute, Shahid Sadoughi University of Medical Science, Yazd, Iran; Genia Medical Genetics Center, Tehran, Iran