Results 71 to 80 of about 6,169 (207)

From the cytosol to the inner membrane: biogenesis of the mitochondrial carrier family

Protein Science, Volume 35, Issue 4, April 2026.
Abstract Mitochondrial carrier proteins are essential for cellular physiology as they are active in a wide range of metabolic pathways including production of cellular energy, amino acid synthesis, redox balance and ion homeostasis. The double membrane of mitochondria provides a tightly gated environment through which carrier proteins facilitate the ...
Catherine S. Palmer, Phoebe J. Leeming, Diana Stojanovski   +2 more
wiley   +1 more source

Severe transient neonatal hyperinsulinism: First Peruvian case series

SAGE Open Medical Case Reports
Congenital hyperinsulinism is characterized by dysregulated insulin secretion and is the most common and severe cause of persistent hypoglycemia in pediatrics. Brain damage rates can be as high as 50% due to inadequate treatment.
Manuel André Virú-Loza, Francesca Bermudez-Paredes, Isabel Milagros Arauco-Carhuas   +2 more
doaj   +1 more source

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

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The document attached has been archived with permission from the editor of the Medical Journal of Australia.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

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

Molecular mechanisms of congenital hyperinsulinism [PDF]

Journal of Molecular Endocrinology, 2015
Congenital hyperinsulinism (CHI) is a complex heterogeneous condition in which insulin secretion from pancreatic β-cells is unregulated and inappropriate for the level of blood glucose. The inappropriate insulin secretion drives glucose into the insulin-sensitive tissues, such as the muscle, liver and adipose tissue, leading to severe hyperinsulinaemic
Sofia A, Rahman, Azizun, Nessa, Khalid, Hussain   +2 more
openaire   +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

Monocarboxylate transporters: new players in body weight regulation. [PDF]

, 2015
Over the last two decades, several genes have been identified that appear to play a role in the regulation of energy homeostasis and body weight. For a small subset of them, a reduction or an absence of expression confers a resistance to the development ...
Carneiro, L., Pellerin, L.
core   +1 more source

Congenital hyperinsulinism with hyperammonaemia

BMJ Case Reports, 2010
Congenital hyperinsulinism is considered to be the most frequent cause of persistent recurrent hypoglycaemia in infants. The clinical presentation and response to pharmacological treatment may vary significantly depending on the underlying pathology. We report a case of a female infant with mild but early onset of recurrent hypoglycaemia.
Alex, Pschibul, Jörg, Müller, Hubert, Fahnenstich   +2 more
openaire   +3 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