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Paper Details

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study.
Lancet Diabetes Endocrinol
43
2020
MCT8, MCT8 (SLC16A2) mutations, MCT8 deficiency, Patients, SLC16A2, SLC16A2 gene, Tri-iodothyronine, cerebral hypothyroidism, chronic peripheral thyrotoxicosis, delay in myelination, intellectual and motor disability, monocarboxylate, monocarboxylate transporter 8, patient, patients, premature atrial contractions, pulmonary infection, sudden death, tachycardia, thyroxine
Author NameAffiliation
Enrico BertiniBambino Gesu' Children's Research Hospital IRCCS
Enrico BertiniBambino Gesu' Children's Research Hospital IRCCS
Ingrid M van BeynumSophia Children's Hospital, Erasmus Medical Centre
Irenaeus F M de CooErasmus Medical Centre
David A KoolenDonders Institute for Brain, Radboud University Medical Center (Radboudumc)
Heiko KrudeCharite-Universitatsmedizin Berlin
Gopinath M SubramanianJohn Hunter Children's Hospital and University of Newcastle
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