Results 11 to 20 of about 39 (39)

Recurrent Hypoglycemia in Two Late‐Preterm Infants With Transitional Disorder of Glucose Mobilization—Case Series

Clinical Case Reports, Volume 14, Issue 3, March 2026.
Timeline of events. ABSTRACT Great emphasis is placed upon addressing hyperinsulinism in at‐risk infants with recurrent hypoglycemia. We report two preterm infants with recurrent nonhyperinsulinemic hypoglycemia due to transient impairment of glucose mobilization, warranting diazoxide use.
Suresh Chandran, Yu Shan Ting, Skanthakumar Abhirami, Fabian Yap   +3 more
wiley   +1 more source

An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 502-510, February 2026.
ABSTRACT O‐GlcNAc transferase (OGT) and its antagonist O‐GlcNAcase (OGA) regulate protein O‐GlcNAcylation, a highly conserved post‐translational modification involved in metabolic sensing. Pathogenic variants in the OGT gene cause an X‐linked congenital disorder of glycosylation (OGT‐CDG) presenting developmental delay, hypotonia, intellectual ...
Alfonso Manuel D'Alessio, Huijie Yuan, Leandro Raul Soria, Sara Basse Hansen, Iolanda Boffa, Paola Arena, Benedetta Attianese, Maureen. O'Sullivan, Noelle Cullinan, Lewis Pang, Daan Marinus Ferdinand van Aalten, Nicola Brunetti‐Pierri, Sally Ann Lynch   +12 more
wiley   +1 more source

Recurrent Hypoglycaemia Leading to Early Diagnosis of Septo‐Optic Dysplasia in a Small‐for‐Gestational‐Age Infant—A Case Report

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT Septo‐optic dysplasia (SOD) is a rare condition with highly heterogenous clinical manifestations and can be a diagnostic challenge. It can present with pituitary hormone deficiencies, growth failure, visual impairment, and neurological symptoms. SOD can be diagnosed at different time points—from the prenatal period to childhood. Our team cared
Yuan Rui Leon Tan, Xiaoao Dong, Ngee Lek, Suresh Chandran, Odattil Geetha   +4 more
wiley   +1 more source

Hypoaminoacidemia and Pyroglutamic Aciduria: Potential Biomarkers in Malnutrition‐Related Hyperammonemia

JIMD Reports, Volume 67, Issue 1, January 2026.
ABSTRACT Hyperammonemia is a medical emergency, and the cause must be identified quickly in order to treat appropriately. Malnutrition is a known risk factor for hyperammonemia; however, there are limited reliable lab indicators used to identify malnutrition.
M. M. Crenshaw, O. M. D'Annibale, V. Martucci, S. Gracie, A. Kochhar, J. Stansauk, A. Larson, P. Baker II, C. Peck, T. Wood, A. El‐Gharbawy, S. McCandless, M. K. LoPiccolo   +12 more
wiley   +1 more source

Clinical Trial: Efficacy and Safety of Velusetrag in Chronic Intestinal Pseudo‐Obstruction: A Randomized, Phase 2, Placebo‐Controlled, Crossover, Multiple (n = 1), Proof‐of‐Concept Study

Neurogastroenterology &Motility, Volume 38, Issue 1, January 2026.
This phase 2 proof‐of‐concept trial evaluated the efficacy and safety of velusetrag in patients with chronic intestinal pseudo‐obstruction. Velusetrag treatment was generally well tolerated and was associated with improved symptoms and a reduction in pseudo‐obstructive episodes versus placebo, although these differences did not reach statistical ...
Carolina Malagelada, Roberto De Giorgio, Rosanna Francesca Cogliandro, Luis Alcalá‐González, Anna Costanzini, Valeria Scuderi, Sara Manzoni, Elena Pasquali, Jan Tack, Vincenzo Stanghellini   +9 more
wiley   +1 more source

Coexisting ADAR and TSHB Mutations in an Infant With Retinal Detachment and Transient Cardiomyopathy

Case Reports in Endocrinology, Volume 2026, Issue 1, 2026.
Background Central congenital hypothyroidism (C‐CH) due to thyroid‐stimulating hormone beta (TSHB) variants is rare and often missed by thyroid‐stimulating hormone (TSH)–based neonatal screening. Adenosine deaminase acting on RNA (ADAR)‐related Aicardi–Goutières syndrome type 6 (AGS6) is an interferonopathy with early‐onset encephalopathy.
Tamer Draidi, Mohammad Khalil, Abed Kabaha, Rafat Zuriqi, Mohammad Masu’d, Osamu Isozaki   +5 more
wiley   +1 more source

Neonatal Outcomes Among Neonates of Women With and Without Type 1 Diabetes in Sweden From 2010 to 2022

Acta Paediatrica, Volume 114, Issue 12, Page 3191-3198, December 2025.
Neonatal outcomes among neonates of women with and without type 1 diabetes in Sweden from 2010 to 2022 by Goldberg A. et al. ABSTRACT Aim This register‐based study aimed to investigate differences in adverse neonatal outcomes between neonates born to mothers with and without type 1 diabetes in Sweden.
Alexandra Goldberg, Eva Wiberg‐Itzel, Joanna Tingström, Cecilia Ekéus   +3 more
wiley   +1 more source

The Behavioral Phenotype and Importance of Multidisciplinary Care in Patients With Sotos Syndrome: A Single‐Center Experience

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Sotos syndrome is an autosomal dominant condition caused by pathogenic variants in the NSD1 gene on chromosome 5q35. It is characterized by macrosomia, distinctive facial features, and developmental delays. Patients are also reported to have a behavioral phenotype including autism spectrum disorder, attention deficit/hyperactivity disorder ...
Aravind Viswanathan, Andrew M. George, Evan R. Hathaway, Carlyn Glatts, Jennifer M. Kalish   +4 more
wiley   +1 more source

Erythematous Papules and Plaques in an Infant Receiving Glucagon Therapy

JEADV Clinical Practice, Volume 4, Issue 5, Page 1263-1266, December 2025.
Sara Al Janahi, Alya Al‐Ali, Meera Al Adawi, Yusra S. Al Ali, Harish Bangalore   +4 more
wiley   +1 more source

Congenital hyperinsulinism due to mutations in HNF1A

European Journal of Medical Genetics, 2020
Daphne Yau, Kevin Colclough, Natalie Canham   +2 more
exaly