Congenital hypothyroidism: A 2020–2021 consensus guidelines update—an ENDO-European reference network initiative endorsed by the European society for …
P Van Trotsenburg, A Stoupa, J Léger, T Rohrer… - Thyroid, 2021 - liebertpub.com
Background: An ENDO-European Reference Network (ERN) initiative was launched that
was endorsed by the European Society for Pediatric Endocrinology and the European …
was endorsed by the European Society for Pediatric Endocrinology and the European …
[HTML][HTML] Second international consensus report on gaps and opportunities for the clinical translation of precision diabetes medicine
Precision medicine is part of the logical evolution of contemporary evidence-based medicine
that seeks to reduce errors and optimize outcomes when making medical decisions and …
that seeks to reduce errors and optimize outcomes when making medical decisions and …
[HTML][HTML] Neonatal diabetes mellitus: a disease linked to multiple mechanisms
M Polak, H Cavé - Orphanet journal of rare diseases, 2007 - Springer
Abstract Transient (TNDM) and Permanent (PNDM) Neonatal Diabetes Mellitus are rare
conditions occurring in 1: 300,000–400,000 live births. TNDM infants develop diabetes in …
conditions occurring in 1: 300,000–400,000 live births. TNDM infants develop diabetes in …
[HTML][HTML] Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6. 2 mutations
ER Pearson, I Flechtner, PR Njølstad… - … England Journal of …, 2006 - Mass Medical Soc
Background Heterozygous activating mutations in KCNJ11, encoding the Kir6. 2 subunit of
the ATP-sensitive potassium (KATP) channel, cause 30 to 58 percent of cases of diabetes …
the ATP-sensitive potassium (KATP) channel, cause 30 to 58 percent of cases of diabetes …
[HTML][HTML] Activating Mutations in the ABCC8 Gene in Neonatal Diabetes Mellitus
AP Babenko, M Polak, H Cavé, K Busiah… - … England Journal of …, 2006 - Mass Medical Soc
Background The ATP-sensitive potassium (KATP) channel, composed of the beta-cell
proteins sulfonylurea receptor (SUR1) and inward-rectifying potassium channel subunit Kir6 …
proteins sulfonylurea receptor (SUR1) and inward-rectifying potassium channel subunit Kir6 …
Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I
A Puel, R Döffinger, A Natividad, M Chrabieh… - Journal of Experimental …, 2010 - rupress.org
Most patients with autoimmune polyendocrine syndrome type I (APS-I) display chronic
mucocutaneous candidiasis (CMC). We hypothesized that this CMC might result from …
mucocutaneous candidiasis (CMC). We hypothesized that this CMC might result from …
European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism
J Léger, A Olivieri, M Donaldson… - The Journal of …, 2014 - academic.oup.com
Objective: The aim was to formulate practice guidelines for the diagnosis and management
of congenital hypothyroidism (CH). Evidence: A systematic literature search was conducted …
of congenital hypothyroidism (CH). Evidence: A systematic literature search was conducted …
Arterial mechanical changes in children with familial hypercholesterolemia
Y Aggoun, D Bonnet, D Sidi, JP Girardet… - … , and vascular biology, 2000 - Am Heart Assoc
Atherosclerosis is preceded by a phase of changes in the arterial wall that could have
functional consequences even before the appearance of atheromatous changes. We …
functional consequences even before the appearance of atheromatous changes. We …
Management of Graves' disease during pregnancy: the key role of fetal thyroid gland monitoring
D Luton, I Le Gac, E Vuillard, M Castanet… - The Journal of …, 2005 - academic.oup.com
Background: Fetuses from mothers with Graves' disease may experience hypothyroidism or
hyperthyroidism due to transplacental transfer of antithyroid drugs (ATD) or anti-TSH …
hyperthyroidism due to transplacental transfer of antithyroid drugs (ATD) or anti-TSH …
[PDF][PDF] ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents
AT Hattersley, SAW Greeley, M Polak… - 2018 - ore.exeter.ac.uk
Monogenic diabetes results from one or more defects in a single gene. The disease may be
inherited within families as a dominant, recessive or non-Mendelian trait or may present as a …
inherited within families as a dominant, recessive or non-Mendelian trait or may present as a …