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Paper Title
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study.
PubMed
Paper Journal Title
Lancet Diabetes Endocrinol
Paper Citation Count
43
Paper Publication Year
2020
Bio Mention
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
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Author Name
Affiliation
Enrico Bertini
Bambino Gesu' Children's Research Hospital IRCCS
Enrico Bertini
Bambino Gesu' Children's Research Hospital IRCCS
Ingrid M van Beynum
Sophia Children's Hospital, Erasmus Medical Centre
Irenaeus F M de Coo
Erasmus Medical Centre
David A Koolen
Donders Institute for Brain, Radboud University Medical Center (Radboudumc)
Heiko Krude
Charite-Universitatsmedizin Berlin
Gopinath M Subramanian
John Hunter Children's Hospital and University of Newcastle
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