换一批Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: Data from the E‐HOD registry
第一作者：
Huemer Martina
作者：
Huemer Martina [1]
;
Diodato Daria [2]
;
Martinelli Diego [3]
;
Olivieri Giorgia [4]
;
Blom Henk [5]
;
Gleich Florian [6]
;
K?lker Stefan [7]
;
Ko?ich Viktor [8]
;
Morris Andrew A. [9]
;
Seifert Burkhardt [10]
;
Froese D. Sean [11]
;
Baumgartner Matthias R. [12]
;
Dionisi‐Vici Carlo [13]
;
the EHOD consortium [14]
;
Martin Carlos Alcalde [15]
;
Baethmann Martina [16]
;
Ballhausen Diana [17]
;
Blasco‐Alonso Javier [18]
;
Boy Nikolas [19]
;
Bueno Maria [20]
;
Burgos Peláez Rosa [21]
;
Cerone Roberto [22]
;
Chabrol Brigitte [23]
;
Chapman Kimberly A. [24]
;
Couce Maria Luz [25]
;
Crushell Ellen [26]
;
Dalmau Serra Jaime [27]
;
Diogo Luisa [28]
;
Ficicioglu Can [29]
;
García Jimenez Maria Concepcion [30]
;
García Silva Maria Teresa [31]
;
Gaspar Ana Maria [32]
;
Gautschi Matthias [33]
;
González‐Lamu?o Domingo [34]
;
Gouveia Sofia [35]
;
Grünewald Stephanie [36]
;
Hendriksz Chris [37]
;
Janssen Mirian C. H. [38]
;
Jesina Pavel [39]
;
Koch Johannes [40]
;
Konstantopoulou Vassiliki [41]
;
Lavigne Christian [42]
;
Lund Allan M. [43]
;
Martins Esmeralda G. [44]
;
Meavilla Olivas Silvia [45]
;
Mention Karine [46]
;
Mochel Fanny [47]
;
Mundy Helen [48]
;
Murphy Elaine [49]
;
Paquay Stephanie [50]
;
Pedrón‐Giner Consuelo ;
Ruiz Gómez Maria Angeles ;
Santra Saikat ;
Schiff Manuel ;
Schwartz Ida Vanessa ;
Scholl‐Bürgi Sabine ;
Servais Aude ;
Skouma Anastasia ;
Tran Christel ;
Vives Pi?era Inmaculada ;
Walter John ;
Weisfeld‐Adams James
作者单位：
Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, Service of Neonatology
[1]
Agia Sofia Children's Hospital 1st Department of PediatricsUniversity of Athens Thivon &
[2]
Universitary Hospital 12 OctubreMadrid,Spain
[3]
Inherited Metabolic Diseases Clinic, Section of Clinical Genetics and MetabolismUniversity of
[4]
Department of Pediatrics and Adolescent MedicineCharles University—First Faculty of Medicine and
[5]
Pediatric Neurology and Metabolic diseases department, Université Catholique de Louvain, Cliniques
[6]
Hospital de Clínicas de Porto Alegre and Department of GeneticsUniversidade Federal do Rio Grande
[7]
Unidad de Nutrición y MetabolopatíasHospital Universitario La FeValencia,Spain
[8]
Willink Metabolic Unit, Genomic MedicineManchester University Hospitals NHS Foundation
[9]
Department of Internal MedicineRadboud University Medical CenterNijmegen,The Netherlands
[10]
Department of PediatricsUniversity Hospital Marqués de Valdecilla, Universidad de
[11]
Centre de Référence des Maladies Héréditaires du MétabolismeCHU La Timone EnfantsMarseille,France
[12]
Reference Center for Inherited Metabolic DiseasesCentro Hospitalar do PortoPorto,Portugal
[13]
Nephrology Department, Reference Center of Inherited Metabolic Diseases, Necker hospital, AP
[14]
Metabolic Neuropediatric UnitUniversity Hospital Son EspasesPalma de Mallorca,Spain
[15]
Institute for Child HealthGreat Ormond Street HospitalUniversity College LondonLondon,UK
[16]
Nutritional Support UnitUniversity Hospital Vall d'HebronBarcelona,Spain
[17]
Department of Biostatistics at Epidemiology, Biostatistics and Prevention InstituteUniversity Z
[18]
Department of PediatricsSalzburger Landeskliniken and Paracelsus Medical UniversitySalzburg,Austria
[19]
Clinical Inherited Metabolic DisordersBirmingham Women's and Children's NHS Foundation
[20]
Centro Academico de Medicina de LisboaLisbon,Portugal
[21]
Hospital Universitario Río HortegaValladolid,Spain
[22]
National Centre for Inherited Metabolic DisordersTemple Street Children's University HospitalDublin
[23]
Division of Human Genetics, The Children's Hospital of PhiladelphiaPerelman School of Medicine at
[24]
Department of Pediatrics and Adolescent MedicineMedical University ViennaVienna,Austria
[25]
University Department of PediatricsGiannina Gaslini InstituteGenoa,Italy
[26]
Sección de Gastroenterología y Nutrición PediátricaHospital Regional de MálagaMálaga,Spain
[27]
Hospital Universitario Virgen del RocíoSevilla,Spain
[28]
Hospital Universitario Virgen de la ArrixacaEl Palmar,Spain
[29]
Division of Metabolism and Children's Research CenterUniversity Children's HospitalZürich
[30]
Centre Inherited Metabolic Diseases, Departments of Clinical Genetics and PaediatricsCopenhagen
[31]
Centro de Referência de Doencas Hereditárias do Metabolismo. Centro de Desenvolvimento da Crian?a ‐
[32]
Division of MetabolismBambino Gesù Children's HospitalRome,Italy
[33]
Children's National Rare Disease InstituteGenetics and MetabolismWashington, DC,USA
[34]
Salford Royal NHS Foundation TrustSalford,UK
[35]
Médecine Interne et Maladies VasculairesCentre Hospitalier Universitaire AngersAngers,France
[36]
Clinic for Pediatrics IInherited Metabolic Disorders Medical University of InnsbruckInnsbruck
[37]
Division of Child Neurology and Metabolic MedicineCentre for Child and Adolescent
[38]
H?pital Jeanne de FlandreLille,France
[39]
Charles Dent Metabolic UnitNational Hospital for Neurology and NeurosurgeryLondon,UK
[40]
Evelina London Children's HospitalLondon,UK
[41]
Department of Pediatrics, Sozialp?diatrisches Zentrum, Klinikum Dritter Orden München
[42]
Center for Molecular DiseasesUniversity Hospital LausanneLausanne,Switzerland
[43]
Department of Internal MedicineVU Medical CenterAmsterdam,The Netherlands
[44]
Reference Center for Inherited Metabolic Diseases, AP‐HP, Robert Debré HospitalUniversity Paris
[45]
Hospital Infantil Miguel ServetZaragoza,Spain
[46]
Interdisciplinary Metabolic Team, Paediatric Endocrinology, Diabetology and MetabolismUniversity
[47]
Division of Gastroenterology, Hepatology and NutritionSant Joan de Déu HospitalBarcelona,Spain
[48]
Division of Gastroenterology and NutritionUniversity Children's Hospital Ni?o JesúsMadrid,Spain
[49]
Reference Center for Adult Neurometabolic DiseasesUniversity Pierre and Marie Curie, La Pitié‐Salp
[50]
发布时间
2019-11-16
- 浏览1
Journal of inherited metabolic disease
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