换一批
换一批Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.
作者：
Oscar Rubio,Cabezas [1]
;
Sarah E,Flanagan [2]
;
Horia,Stanescu [3]
;
Elena,García-Martínez [4]
;
Richard,Caswell [2]
;
Hana,Lango-Allen [2]
;
Montserrat,Antón-Gamero [4]
;
Jesús,Argente [1]
;
Anna-Marie,Bussell [5]
;
Andre,Brandli [6]
;
Chris,Cheshire [7]
;
Elizabeth,Crowne [2]
;
Simona,Dumitriu [8]
;
Robert,Drynda [3]
;
Julian P,Hamilton-Shield [9]
;
Wesley,Hayes [3]
;
Alexis,Hofherr [10]
;
Daniela,Iancu [9]
;
Naomi,Issler [11]
;
Craig,Jefferies [12]
;
Peter,Jones [3]
;
Matthew,Johnson [3]
;
Anne,Kesselheim [13]
;
Enriko,Klootwijk [10]
;
Michael,Koettgen [2]
;
Wendy,Lewis [3]
;
José María,Martos [3]
;
Monika,Mozere [12]
;
Jill,Norman [14]
;
Vaksha,Patel [15]
;
Andrew,Parrish [3]
;
Celia,Pérez-Cerdá [3]
;
Jesús,Pozo [3]
;
Sofia A,Rahman [2]
;
Neil,Sebire [16]
;
Mehmet,Tekman [1]
;
Peter D,Turnpenny [17]
;
William Van't,Hoff [11]
;
Daan H H M,Viering [17]
;
Michael N,Weedon [3]
;
Patricia,Wilson [18]
;
Lisa,Guay-Woodford [11]
;
Robert,Kleta [3]
;
Khalid,Hussain [2]
;
Sian,Ellard [3]
;
Detlef,Bockenhauer [19]
作者单位：
Pediatric Endocrinology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.
[1]
University of Exeter Medical School, Institute of Biomedical and Clinical Science, Exeter, United Kingdom.
[2]
University College London Centre for Nephrology, University College London, London, United Kingdom.
[3]
Pediatric Nephrology, Hospital Universitario Reina Sofía, Córdoba, Spain.
[4]
Instituto de Investigación La Princesa, Universidad Autónoma de Madrid, Madrid, Spain.
[5]
Centro de Investigación Biomédica en Red de Fisiopatología de la Obesidad y Nutrición (CIBEROBN), Instituto de Salud Carlos III, Madrid, Spain.
[6]
Madrid Institute for Advanced Studies on Food, Comité de Ética de la Investigación de la Universidad Autónoma de Madrid, and Centro Superior de Investigaciones Científicas, Carretera de Cantoblanco 8.28049, Madrid, Spain.
[7]
Walter-Brendel-Center of Experimental Medicine, Ludwig-Maximilians-University Munich, Munich, Germany.
[8]
University of Bristol and Bristol Royal Hospital for Children, Bristol, United Kingdom.
[9]
Diabetes Research Group, King's College, London, United Kingdom.
[10]
Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
[11]
Renal Division, Department of Medicine, Faculty of Medicine, University of Freiburg, Freiburg, Germany.
[12]
Starship Children's Hospital, Liggins Institute, University of Auckland, Auckland, New Zealand.
[13]
East of Scotland Genetic Service, Dundee, United Kingdom.
[14]
Pediatric Endocrinology, Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, Spain.
[15]
Centro de Diagnóstico de Enfermedades Moleculares, Universidad Autónoma de Madrid, Center for Biomedical Research in Rare diseases, Instituto de Investigacion Hospital Universitario La Paz, Madrid, Spain.
[16]
University College London Institute of Child Health, London, United Kingdom.
[17]
Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom.
[18]
Children's National Health System, Washington, DC; and.
[19]
Department of Pediatric Medicine, Sidra Medical and Research Center, Doha, Qatar.
[20]
主题词
儿童, 学龄前(Child, Preschool);女(雌)性(Female);人类(Humans);婴儿(Infant);婴儿, 新生(Infant, Newborn);男(雄)性(Male);突变(Mutation);磷酸转移酶类(磷酸变位酶类)(Phosphotransferases (Phosphomutases));多囊肾疾病(Polycystic Kidney Diseases);启动区, 遗传(Promoter Regions, Genetic)
DOI
10.1681/ASN.2016121312
PMID
28373276
发布时间
2022-04-08
- 浏览27
Journal of the American Society of Nephrology
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