Results 61 to 70 of about 10,623 (193)

Diagnostic difficulties in glucokinase hyperinsulinism [PDF]

, 2009
7 páginasGlucokinase Hyperinsulinism (GCK-HI) is a rare variant of congenital hyperinsulinism caused by activating mutations in the glucokinase gene resulting in overactivity of glucokinase within the pancreatic -cell.
Sanz, Pascual, Cuesta-Muñoz, Antonio L., Marquard, J., Castro, M. J., Cobo-Vuilleumier, Nadia, García-Gimeno, María Adelaida, Aledo, J. C., Mayatepek, E., Olek, K., Weber, J., Meissner, T., Maringa, M., Baixeras, Elena, Rodríguez-Bada, P.   +13 more
core   +1 more source

Variables associated with endogenous hyperinsulinism in hypoglycemia diagnosis. Could the 72-hour fasting test be shortened in low-risk patients?

Journal of Clinical & Translational Endocrinology
Background: The 72-hour fasting test remains the standard for the diagnosis of endogenous hyperinsulinism. We investigated which variables could identify patients at low risk for endogenous hyperinsulinism, in whom a shortening of the 72-hour fasting ...
Tomás González-Vidal, Óscar Lado-Baleato, Inés Masid, Carmen Gándara-Gutiérrez, Gema Martínez-Tamés, Jessica Ares, Carmen Lambert, María Riestra-Fernández, Francisco Gude, Elías Delgado, Edelmiro Menéndez-Torre   +10 more
doaj   +1 more source

Phase 3 Randomized Trial Results of DTX401 AAV Gene Therapy for the Treatment of GSDIa

Journal of Inherited Metabolic Disease, Volume 49, Issue 5, September 2026.
ABSTRACT Glycogen storage disease type Ia (GSDIa) is a rare, life‐threatening inherited carbohydrate metabolism disorder caused by biallelic pathogenic G6PC gene variants resulting in deficiency of glucose‐6‐phosphatase. DTX401 is an investigational AAV8 vector containing the human G6PC gene. DTX401‐CL301 is a pivotal, phase 3, double‐blind, randomized,
John J. Mitchell, Jose E. Abdenur, Foekje de Boer, Monica Boyer, Margo Sheck Breilyn, María‐Luz Couce, Diva D. De Leon, Terry G. Derks, Areeg El‐Gharbawy, Andrea B. Haijer‐Schreuder, Karen Loechner, Nicola Longo, Allan M. Lund, Miguel Angel Martinez Olmos, Shawn E. McCandless, Bibiana Mello de Oliveira, Malaya Mount, Nicole Muschol, Kristina Pytlak, Kadakkal Radhakrishnan, Rebecca Riba‐Wolman, David F. Rodriguez‐Buritica, Alessandro La Rosa, Alessandro Rossi, Heather Saavedra, René Santer, Brian Shayota, G. Peter A. Smit, Carolina F. Moura De Souza, Melanie M. van der Klauw, David A. Weinstein, Joseph I. Wolfsdorf, Anne Blake, Andrew A. Grimm, Deepali Mitragotri, Syeda Rahman, Diane M. Turner‐Bowker, Richard Collis   +37 more
wiley   +1 more source

Exercise-induced hyperinsulinism: genetic basis and clinical management

中国当代儿科杂志
Exercise-induced hyperinsulinism, also known as monocarboxylate transporter 1 hyperinsulinemia, is a rare subtype of congenital hyperinsulinism caused by gain-of-function variants in the SLC16A1 gene, which encodes monocarboxylate transporter 1.
ZHANG Qi-Ting, HOU Ling
doaj   +1 more source

The Clinical Phenotype and Genetic Analysis of Monogenic Non Syndromic Obesity Caused by MC4R Gene Variation

Molecular Genetics &Genomic Medicine, Volume 14, Issue 8, August 2026.
A novel MC4R mutation (c.185A > G) was identified in a 10‐year‐old girl with severe obesity and hyperinsulinemia. Retrospective analysis of 64 pediatric cases revealed that mutation location influences BMI, modulated by underlying disease status, demonstrating that the genotype–phenotype relationship in MC4R‐associated obesity is clinically context ...
Xin Li, Xiaotian Wang, Xin Liu, Shuping Wang, Wentao Yang   +4 more
wiley   +1 more source

Comprehensive Assessment of the KDM2B‐Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome

Clinical Genetics, Volume 110, Issue 2, Page 150-164, August 2026.
We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw, Tzung‐Chien Hsieh, Martijn Koetsier, Abdulrazak Alali, Fatimah Albuainain, Elena Bacchelli, Tahsin Stefan Barakat, Yline Capri, Sandra Chantot‐Bastaraud, Valeria Capra, Deanna Alexis Carere, Emma Clement, Nour Elkhateeb, Madeleine Franchi, Jing‐Mei Li, Nicole Matthews, Vanda McNiven, Sarju G. Mehta, Masayuki Nakamura, Chanika Phornphutkul, Nicole Revencu, Marcello Scala, Natalie Shallow, Jennifer Stefanich, Marta Viggiano, Paola Visconti, Susan Walker, Federico Zara, Mariëlle Alders, Bobby P. C. Koeleman, Renske Oegema   +30 more
wiley   +1 more source

Association of Post‐Oral Glucose Tolerance Test Hypoglycaemia With Clinical Features, Incident Diabetes and Mortality in the Di@bet.es Cohort

Diabetes, Obesity and Metabolism, Volume 28, Issue 8, Page 7430-7442, August 2026.
ABSTRACT Aims To investigate the association of post‐oral glucose tolerance test (OGTT) hypoglycaemia with clinical features, incident diabetes and mortality. Materials and Methods This population‐based cohort study included 2924 adults (median age 49 years, 1680 women) without known diabetes who underwent a 75‐g OGTT as part of the Di@bet.es Study ...
Tomás González‐Vidal, Gemma Rojo‐Martínez, Sergio Valdés, Eva García‐Escobar, Josep Franch‐Nadal, Alfonso Calle‐Pascual, Luis Castaño, Felipe Javier Chaves, Eduard Montanya, Elsa Villa‐Fernández, Ana Victoria García, Miguel García‐Villarino, Carmen Lambert, Edelmiro Menéndez‐Torre, Elías Delgado   +14 more
wiley   +1 more source

Developing a congenital hyperinsulinism prioritized research agenda: a patient-driven international collaborative research network

Frontiers in Endocrinology
IntroductionCongenital Hyperinsulinism (HI) is a rare disease that causes severe and recurrent hypoglycemia due to dysregulated insulin secretion. HI is the most frequent cause of severe, persistent hypoglycemia in newborns and children.
Tai L. S. Pasquini, Indraneel Banerjee, Henrik Thybo Christesen, Louise S. Conwell, Antonia Dastamani, Diva D. De Leon, Sarah E. Flanagan, David Gillis, Jennifer M. Kalish, Katherine Lord, Mahlet Mesfin, Jennifer Schmitt, Senthil Senniappan, Charles A. Stanley, Paul S. Thornton, David Zangen, Julie Raskin, the Congenital Hyperinsulinism Collaborative Research Network Members   +17 more
doaj   +1 more source

Bilateral Ballismus: An Unusual Clinical Sign With an Unexpected Origin

Clinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT The spectrum of neurologic symptoms caused by hypoglycaemia can be remarkably broad. Thus, hypoglycemia should be considered early in the diagnostic workup of neurologic symptoms, including those that may appear atypical. Prompt glucose administration can result in rapid symptom resolution, potentially preventing costly or unnecessary invasive
S. Reichert, A. Knoflach, I. Wiedl, K. Hoskin, C. Ganser, M. Wertli, T. Cosma   +6 more
wiley   +1 more source

From Multiple Congenital Anomalies to Pituitary Gland Malformation: Wide Spectrum of Clinical Features in a Family With FOXA2 Variant

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1452-1457, June 2026.
ABSTRACT FOXA2 (hepatocyte nuclear factor‐3β, HNF‐3β) encodes a transcriptional activator involved in early embryogenesis, particularly in the patterning and differentiation of midline structures such as the neural tube, foregut, and pituitary gland. Its role in human pathogenesis was first suspected when patients with deletion of chromosome 20p11.2 ...
Christopher Connolly, Hemant A. Parmar, Lauren Hipp, Tomoyasu Higashimoto   +3 more
wiley   +1 more source