Results 31 to 40 of about 5,897 (164)

Congenital hyperinsulinism caused by a de novo mutation in the ABCC8 gene: a case report [PDF]

, 2018
K
Balogh, István, Balogh, Lídia, Gombos, Éva, Kappelmayer, János, Madar, László, Molnár, Zsuzsanna   +5 more
core  

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

Altura final na hiperplasia suprarrenal congênita: o dilema do hipercortisolismo versus hiperandrogenismo [PDF]

, 2013
OBJECTIVE: The purpose of this study was to identify factors that might interfere with reaching the final height in patients with 21-hydroxylase deficiency (21-OHD).
Chagas, Antônio José das, Cordeiro, Giovana Vignoli, Goulart, Eugênio Marcos Andrade, Kater, Claudio Elias, Silva, Ivani Novato   +4 more
core   +2 more sources

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

iRegNet3D: three-dimensional integrated regulatory network for the genomic analysis of coding and non-coding disease mutations [PDF]

, 2017
The mechanistic details of most disease-causing mutations remain poorly explored within the context of regulatory networks. We present a high-resolution three-dimensional integrated regulatory network (iRegNet3D) in the form of a web tool, where we ...
Cooper, David Neil, Liang, Siqi, Mort, Matthew, Stenson, Peter D., Tippens, Nathaniel D., Yu, Haiyuan, Zhou, Yaoda   +6 more
core   +4 more sources

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

Thyroxine-binding globulin: investigation of microheterogeneity [PDF]

, 1981
Preparations of T4-binding globulin (TBG) from human serum was performed using only two affinity chromatography steps. Purity of the protein was demonstrated by a single band in overloaded disc and sodium dodecyl sulfate electrophoresis, equimolar ...
Gärtner, Roland, Henze, R., Horn, K., Pickardt, C. R., Scriba, Peter Christian   +4 more
core   +1 more source

Polycystic ovary syndrome [PDF]

, 2004
The document attached has been archived with permission from the editor of the Medical Journal of Australia. An external link to the publisher’s copy is included.Polycystic ovary syndrome (PCOS) affects 5-20% of women of reproductive age worldwide.
A Corbould, A Corbould, A Dokras, A Dunaif, A Dunaif, A Dunaif, A Dunaif, A Gambineri, AA Deeks, AA Deeks, AD Coviello, AE Joham, AJ Krentz, AM Goss, AY Chang, B Banaszewska, B Dilbaz, BA Gower, BA Swiglo, BC Fauser, BC Fauser, BO Yildiz, BO Yildiz, BO Yildiz, BO Yildiz, BO Yildiz, BW Donesky, C Battaglia, C Farquhar, C Formuso, C Kitzinger, C Siristatidis, C Villarroel, CA McHorney, CB Book, Centers for Disease Control and Prevention (CDC), CJ Carlson, CK Welt, CL Harrison, CL Harrison, CM Boomsma, CM Burt Solorzano, CM DeUgarte, CN Bairey Merz, CR McCartney, D Cibula, D Lizneva, D Rosenbaum, D Skubleny, DA Dumesic, DA Dumesic, DA Ehrmann, DM Liu, DS Kiddy, DW Polson, E Carmina, E Carmina, E Carmina, E Carmina, E Carmina, E Carvalho, E Dahlgren, E Diamanti-Kandarakis, E Diamanti-Kandarakis, E Diamanti-Kandarakis, E Lerchbaum, E Vanky, EJ van Zuuren, EO Talbott, F Alvarez-Blasco, F Fanelli, F Ramezani Tehrani, FJ Broekmans, FL Teixeira Filho, FR Day, FR Tehrani, G Chazenbalk, G Conway, G Daskalopoulos, G Guyatt, G Kosova, G Ladson, GG Gosman, GL Fraser, H Abu Hashim, H Mani, HF Escobar-Morreale, HJ Teede, HJ Teede, I Ek, I Souter, J Du, J Laitinen, J Schmidt, J Sun, J Zawadzki, JA Balfour, JA Visser, JA Visser, JE Nestler, JE Nestler, JL Cresswell, JM McAllister, JM Vink, JP Baillargeon, JS Laven, KA Townsend, KG Ewens, KK Naka, KK Roessler, KY Cha, L Barnard, L Cronin, L Cui, L Cui, L Gao, L Ibanez, L Ibanez, L Ibanez, L Manneras-Holm, L Moran, L Sterling, LJ Moran, LJ Moran, LJ Moran, LJ Moran, LJ Moran, LJ Moran, LJ Webber, LO Tso, M Api, M Eriksen, M Harris-Glocker, M Hudecova, M Kahsar-Miller, M Luque-Ramirez, M Luque-Ramirez, M Maliqueo, M Rajkhowa, M Wiksten-Almstromer, MA Sagle, MB Khomami, ME Gibson-Helm, MG Hayes, MH van Hooff, MJ Nahuis, MJ Solnik, ML Pan, ML Walls, MM Zain, MR Jones, N Cinar, N Cinar, N Lass, N Naderpoor, N Roos, NF Goodman, NK Stepto, NM Daan, NM O'Meara, O Koulouri, O Valkenburg, P Moghetti, PO Dale, Q Du, R Azziz, R Azziz, R Azziz, R Azziz, R Azziz, R Azziz, R Hart, R Homburg, R Khera, R Mathur, R Pasquali, R Saxena, R Shroff, RA DeFronzo, RC Christian, RJ Norman, RL Thomson, RN Bergman, Rotterdam ESHRE/ASRM-Sponsored PCOS Consensus Workshop Group, Rotterdam ESHRE/ASRM-Sponsored PCOS Consensus Workshop Group, RS Legro, RS Legro, RS Legro, RS Legro, RS Legro, S Catteau-Jonard, S Elsenbruch, S Hahn, S Iftikhar, S Mahabeer, S Palomba, S Venturoli, S Wild, S Wild, S Zhao, SA Anderson, SA Stubbs, SE Recabarren, SM Veltman-Verhu lst, SS Lim, ST Bird, T Meas, T Sir-Petermann, T Sir-Petermann, T Tang, T Tang, Thessaloniki ESHRE/ASRM-Sponsored PCOS Consensus Workshop Group, TP Ciaraldi, TP Ciaraldi, TP Ciaraldi, TP Ciaraldi, TY Chuang, U Ezeh, U Shim, V Padmanabhan, WT Garvey, X Cai, XJ Li, XZ Jia, Y Li, Y Shi, Y Shi, YH Chen, YV Louwers, YY Zhang, ZJ Chen   +230 more
core   +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