Calcium channelopathies and intellectual disability: a systematic review

M Kessi, B Chen, J Peng, F Yan, L Yang… - Orphanet journal of rare …, 2021 - Springer
Background Calcium ions are involved in several human cellular processes including
corticogenesis, transcription, and synaptogenesis. Nevertheless, the relationship between …

Standardised practices in the networked management of congenital hyperinsulinism: a UK national collaborative consensus

MG Shaikh, AK Lucas-Herald, A Dastamani… - Frontiers in …, 2023 - frontiersin.org
Congenital hyperinsulinism (CHI) is a condition characterised by severe and recurrent
hypoglycaemia in infants and young children caused by inappropriate insulin over …

Congenital hyperinsulinism: current laboratory-based approaches to the genetic diagnosis of a heterogeneous disease

TI Hewat, MB Johnson, SE Flanagan - Frontiers in Endocrinology, 2022 - frontiersin.org
Congenital hyperinsulinism is characterised by the inappropriate release of insulin during
hypoglycaemia. This potentially life-threatening disorder can occur in isolation, or present as …

KATP channel mutations in congenital hyperinsulinism: Progress and challenges towards mechanism-based therapies

A ElSheikh, SL Shyng - Frontiers in Endocrinology, 2023 - frontiersin.org
Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in
infancy/childhood and is a serious condition associated with severe recurrent attacks of …

Syndromic forms of congenital hyperinsulinism

M Zenker, K Mohnike, K Palm - Frontiers in endocrinology, 2023 - frontiersin.org
Congenital hyperinsulinism (CHI), also called hyperinsulinemic hypoglycemia (HH), is a
very heterogeneous condition and represents the most common cause of severe and …

Dynamic methods for childhood hypoglycemia phenotyping: A narrative review

A Rossi, MGS Rutten, TH van Dijk, BM Bakker… - Frontiers in …, 2022 - frontiersin.org
Hypoglycemia results from an imbalance between glucose entering the blood compartment
and glucose demand, caused by a defect in the mechanisms regulating postprandial …

[HTML][HTML] Hypoglycemia in Neonates, Infants, and Children

E Rosenfeld, PS Thornton - Endotext [Internet], 2023 - ncbi.nlm.nih.gov
Hypoglycemia in neonates, infants and children should be considered a medical emergency
that can cause seizures, permanent neurological injury, and in rare cases, death, if …

Clinical practice guidelines for the care of girls and women with Turner syndrome: Proceedings from the 2023 Aarhus International Turner Syndrome Meeting

CH Gravholt, NH Andersen… - European Journal of …, 2024 - academic.oup.com
Turner syndrome (TS) affects 50 per 100 000 females. TS affects multiple organs through all
stages of life, necessitating multidisciplinary care. This guideline extends previous ones and …

Hypoglycaemia metabolic gene panel testing

A Maiorana, FR Lepri, A Novelli… - Frontiers in …, 2022 - frontiersin.org
A large number of inborn errors of metabolism present with hypoglycemia. Impairment of
glucose homeostasis may arise from different biochemical pathways involving insulin …

Turner syndrome and neuropsychological abnormalities: a review and case series

BB Guaraná, MR Nunes, VF Muniz, BL Diniz… - Revista Paulista de …, 2024 - SciELO Brasil
Objective: The objective of this study was to establish the genotype-phenotype correlation
between karyotype results and the neurological and psychiatric alterations presented in …