换一批Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study.
第一作者：
Ferdy S,van Geest
第一单位：
Academic Center for Thyroid Diseases, Department of Internal Medicine, Erasmus Medical Center, 3015 GD Rotterdam, The Netherlands.
作者：
Ferdy S,van Geest [1]
;
Stefan,Groeneweg [1]
;
Erica L T,van den Akker [2]
;
Iuliu,Bacos [3]
;
Diana,Barca [4]
;
Sjoerd A A,van den Berg [5]
;
Enrico,Bertini [6]
;
Doris,Brunner [7]
;
Nicola,Brunetti-Pierri [8]
;
Marco,Cappa [9]
;
Gerarda,Cappuccio [8]
;
Krishna,Chatterjee [10]
;
Alexander D,Chesover [11]
;
Peter,Christian [12]
;
Régis,Coutant [13]
;
Dana,Craiu [4]
;
Patricia,Crock [14]
;
Cheyenne,Dewey [15]
;
Alice,Dica [4]
;
Paul,Dimitri [16]
;
Rachana,Dubey [17]
;
Anina,Enderli [18]
;
Jan,Fairchild [19]
;
Jonathan,Gallichan [20]
;
Luigi R,Garibaldi [21]
;
Belinda,George [22]
;
Annette,Hackenberg [23]
;
Bianka,Heinrich [23]
;
Tony,Huynh [24]
;
Anna,Kłosowska [25]
;
Amy,Lawson-Yuen [15]
;
Michaela,Linder-Lucht [26]
;
Greta,Lyons [10]
;
Felipe,Monti Lora [27]
;
Carla,Moran [10]
;
Katalin E,Müller [28]
;
Laura,Paone [9]
;
Praveen G,Paul [29]
;
Michel,Polak [30]
;
Francesco,Porta [31]
;
Christina,Reinauer [32]
;
Yolanda B,de Rijke [33]
;
Rowen,Seckold [14]
;
Tuba Seven,Menevşe [34]
;
Peter,Simm [35]
;
Anna,Simon [29]
;
Marco,Spada [31]
;
Athanasia,Stoupa [30]
;
Lilla,Szeifert [36]
;
Davide,Tonduti [37]
;
Hans,van Toor [38]
;
Serap,Turan [34]
;
Joel,Vanderniet [14]
;
Monique,de Waart [33]
;
Ronald,van der Wal [38]
;
Adri,van der Walt [39]
;
Anne-Marie,van Wermeskerken [40]
;
Jolanta,Wierzba [41]
;
Federica,Zibordi [42]
;
Amnon,Zung [43]
;
Robin P,Peeters [1]
;
W Edward,Visser [1]
作者单位：
Academic Center for Thyroid Diseases, Department of Internal Medicine, Erasmus Medical Center, 3015 GD Rotterdam, The Netherlands.
[1]
Division of Endocrinology, Department of Pediatrics, Erasmus MC-Sophia Children's Hospital, University Medical Center, 3015 GD Rotterdam, The Netherlands.
[2]
Centrul Medical Dr. Bacos Cosma, Timisoara 307200, Romania.
[3]
Carol Davila University of Medicine, Department of Clinical Neurosciences, Paediatric Neurology Discipline II, Bucharest 050474, Romania.;Paediatric Neurology Clinic, Reference Center for Rare Paediatric Neurological Disorders, ENDO-ERN member, Alexandru Obregia Hospital, Bucharest 041914, Romania.
[4]
Diagnostic Laboratory for Endocrinology, Department of Internal Medicine, Erasmus Medical Center , 3015 GD Rotterdam, The Netherlands.;Department of Clinical chemistry, Erasmus Medical Center, 3015 GD Rotterdam, The Netherlands.
[5]
Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesu' Children's Research Hospital IRCCS, 00165 Rome, Italy.
[6]
Gottfried Preyer's Children Hospital, 1100 Vienna, Austria.
[7]
Department of Translational Medicine, Federico II University, 80131 Naples, Italy.;Telethon Institute of Genetics and Medicine, Pozzuoli, 80078 Naples, Italy.
[8]
Division of Endocrinology, Bambino Gesu' Children's Research Hospital IRCCS, 00165 Rome, Italy.
[9]
Wellcome Trust-Medical Research Council Institute of Metabolic Science, University of Cambridge, Cambridge CB2 0QQ, UK.
[10]
Division of Endocrinology, The Hospital for Sick Children and Department of Paediatrics, University of Toronto, Toronto, M5G 1X8, Canada.
[11]
East Kent Hospitals University NHS Foundation Trust, Ashford TN24 0LZ, UK.
[12]
Department of Pediatric Endocrinology and Diabetology, University Hospital, 49100 Angers, France.
[13]
John Hunter Children's Hospital, New Lambton Heights, NSW 2305, Australia.;Hunter Medical Research Institute, University of Newcastle Kookaburra Circuit, New Lambton Heights, NSW 2305, Australia.
[14]
Genomics Institute Mary Bridge Children's Hospital, MultiCare Health System Tacoma, WA 98403, USA.
[15]
Sheffield Children's NHS Foundation Trust, Sheffield Hallam University and University of Sheffield, Sheffield, S10 2TH, UK.
[16]
Medanta Superspeciality Hospital, Indore 800020, India.
[17]
Department of Neuropediatrics, University Children's Hospital Zurich, Steinwiesstrasse 75, 8032 Zürich, Switzerland.;Neurology Department, Children's Hospital, St. Gallen, 9000, Switzerland.
[18]
Department of Diabetes and Endocrinology, Women's and Children's Hospital, North Adelaide 5066 SouthAustralia.
[19]
Plymouth Hospitals NHS Trust, Plymouth, PL6 8DH,UK.
[20]
UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA 15224, USA.
[21]
Department of Endocrinology, St. John's Medical College Hospital, Bengaluru 560034, India.
[22]
Department of Neuropediatrics, University Children's Hospital Zurich, Steinwiesstrasse 75, 8032 Zürich, Switzerland.
[23]
Department of Endocrinology & Diabetes, Queensland Children's Hospital, South Brisbane Queensland 4101, Australia.;Department of Chemical Pathology, Mater Pathology, South Brisbane, Queensland 4101, Australia.;Faculty of Medicine, University of Queensland, Brisbane, Queensland 4072, Australia.
[24]
Department of Pediatrics, Hematology and Oncology, Medical University of Gdańsk, 80-210 Gdańsk, Poland.
[25]
Division of Neuropediatrics and Muscular Disorders, Department of Pediatrics and Adolescent Medicine, University Hospital Freiburg, 79106 Freiburg, Germany.
[26]
Pediatric Endocrinology Group, Santa Catarina Hospital, São Paulo, 01310-000, Brazil.
[27]
Heim Pal National Institute of Pediatrics, Budapest, 1089, Hungary.;Institute of Translational Medicine, University of Pécs, Pécs, 7622, Hungary.
[28]
Department of Paediatrics, Christian Medical College, Vellore 632004, India.
[29]
Paediatric Endocrinology, Diabetology and Gynaecology Department, Necker Children's University Hospital, Imagine Institute, Université de Paris, Paris 75015, France.
[30]
Department of Paediatrics, AOU Città della Salute e della Scienza di Torino, University of Torino, Torino 10126,Italy.
[31]
Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Medical Faculty, Duesseldorf 40225, Germany.
[32]
Department of Clinical chemistry, Erasmus Medical Center, 3015 GD Rotterdam, The Netherlands.
[33]
Marmara University School of Medicine Department of Pediatric Endocrinology, Istanbul 34854, Turkey.
[34]
Royal Children's Hospital/University of Melbourne, Parkville 3052,Australia.
[35]
1st Department of Pediatrics, Semmelweis University, Budapest, 1083, Hungary.
[36]
Child Neurology Unit - C.O.A.L.A. (Center for Diagnosis and Treatment of Leukodystrophies), V. Buzzi Children's Hospital, Milano 20154, Italy.
[37]
Diagnostic Laboratory for Endocrinology, Department of Internal Medicine, Erasmus Medical Center , 3015 GD Rotterdam, The Netherlands.
[38]
Private Paediatric Neurology Practice of Dr A van der Walt, Durbanville, South Africa.
[39]
Department of Paediatrics, Flevoziekenhuis, 1315 RA, Almere, The Netherlands.
[40]
Department of Internal and Pediatric Nursing, Institute of Nursing and Midwifery, Medical University of Gdańsk, 80-210 Gdańsk, Poland.
[41]
Child Neurology Unit, Fondazione IRCCS, Istituto Neurologico Carlo Besta, Milan 20133, Italy.
[42]
Pediatric Endocrinology Unit, Kaplan Medical Center, University of Jerusalem, Rehovot 76100, Israel.
[43]
医学主题词
青少年(Adolescent);成年人(Adult);老年人(Aged);儿童(Child);儿童, 学龄前(Child, Preschool);女(雌)性(Female);随访研究(Follow-Up Studies);人类(Humans);婴儿(Infant);男(雄)性(Male);中年人(Middle Aged);一元羧酸转运子(Monocarboxylic Acid Transporters);肌张力过低(Muscle Hypotonia);肌萎缩(Muscular Atrophy);突变(Mutation);回顾性研究(Retrospective Studies);协同转运子(Symporters);治疗结果(Treatment Outcome);三碘甲状腺原氨酸(Triiodothyronine);青年人(Young Adult)
DOI
10.1210/clinem/dgab750
PMID
34679181
发布时间
2025-01-03
- 浏览1
The Journal of clinical endocrinology and metabolism
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