Allan-Herndon-Dudley syndrome in Hong Kong: Implication for newborn screening

A novel variant in SLC16A2 associated with typical Allan-Herndon-Dudley syndrome: a case report

(2022) Xiaodan Chen et al.   BMC Pediatrics

Measurement of Reverse Triiodothyronine Level and the Triiodothyronine to Reverse Triiodothyronine Ratio in Dried Blood Spot Samples at Birth May Facilitate Early Detection of Monocarboxylate Transporter 8 Deficiency

(2021) Hideyuki Iwayama et al.   THYROID

Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study

(2021) Ferdy S van Geest et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

(2020) Stefan Groeneweg et al.   Lancet Diabetes & Endocrinology

Congenital hypothyroidism: a 2020 consensus guidelines update An ENDO-EUROPEAN REFERENCE NETWORK (ERN) initiative endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology

(2020) Adrianus Sarinus van Trotsenburg et al.   THYROID

Evaluation and management of the child with hypothyroidism

(2019) Alexander K. C. Leung et al.   World Journal of Pediatrics

Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial

(2019) Stefan Groeneweg et al.   Lancet Diabetes & Endocrinology

Expanding the phenotypic spectrum of Allan–Herndon–Dudley syndrome in patients with SLC 16A2 mutations

(2019) Ganaelle Remerand et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

TSH enhancement of FT4 to FT3 conversion is age dependent

(2016) David Strich et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Allan-Herndon-Dudley syndrome with unusual profound sensorineural hearing loss

(2015) Lucia Gagliardi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Allan–Herndon–Dudley syndrome (AHDS) in two consecutive generations caused by a missense MCT8 gene mutation. Phenotypic variability with the presence of normal serum T3 levels

(2013) Loredana Boccone et al.   European Journal of Medical Genetics

Pregnancy in women heterozygous for MCT8 mutations: risk of maternal hypothyroxinemia and fetal care

(2010) Helton Estrela Ramos et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Importance of Monocarboxylate Transporter 8 for the Blood-Brain Barrier-Dependent Availability of 3,5,3′-Triiodo-l-Thyronine

(2009) Ainhoa Ceballos et al.   ENDOCRINOLOGY

Natural History of Thyroid Function Tests over 5 Years in a Large Pediatric Cohort

(2009) Liora Lazar et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Pediatric Reference Intervals for Free Thyroxine and Free Triiodothyronine

(2009) Offie P. Soldin et al.   THYROID