Results 201 to 210 of about 2,729,552 (357)

Editorial: Nutritional management of patients with inborn errors of metabolism. [PDF]

Front Nutr
Pedrón-Giner C, Aldamiz-Echevarria L, Couce ML.   +2 more
europepmc   +1 more source

Intronic variants in inborn errors of metabolism: Beyond the exome. [PDF]

Front Genet, 2022
Hertzog A, Selvanathan A, Farnsworth E, Tchan M, Adams L, Lewis K, Tolun AA, Bennetts B, Ho G, Bhattacharya K.   +9 more
europepmc   +1 more source

Ketotic Hypoglycaemia Following Sleeve Gastrectomy

Clinical Endocrinology, EarlyView.
ABSTRACT Post‐bariatric surgery hypoglycaemia is typically mediated by hyperinsulinaemia, although the exact mechanisms are incompletely understood. Two cases of non‐insulin mediated, ketotic hypoglycaemia following sleeve gastrectomy are presented. After fasting for 40 and 65 h, respectively, both patients developed symptomatic hypoglycaemia, with ...
Jinwen He, Liza Phillips, Janelle Nisbet, Adam Morton   +3 more
wiley   +1 more source

Clinical periodontal diagnosis

Periodontology 2000, EarlyView., 2023
Abstract Periodontal diseases include pathological conditions elicited by the presence of bacterial biofilms leading to a host response. In the diagnostic process, clinical signs such as bleeding on probing, development of periodontal pockets and gingival recessions, furcation involvement and presence of radiographic bone loss should be assessed prior ...
Giovanni E. Salvi, Andrea Roccuzzo, Jean‐Claude Imber, Alexandra Stähli, Björn Klinge, Niklaus P. Lang   +5 more
wiley   +1 more source

Tandem mass spectrometry in screening for inborn errors of metabolism: comprehensive bibliometric analysis. [PDF]

Front Pediatr
Kononets V, Zharmakhanova G, Balmagambetova S, Syrlybayeva L, Berdesheva G, Zhussupova Z, Tautanova A, Kurmambayev Y.   +7 more
europepmc   +1 more source

Metabolomic Studies in Inborn Errors of Metabolism: Last Years and Future Perspectives. [PDF]

Metabolites, 2023
Cossu M, Pintus R, Zaffanello M, Mussap M, Serra F, Marcialis MA, Fanos V.   +6 more
europepmc   +1 more source

Infantile Cerebellar‐Retinal Degeneration Associated With Novel ACO2 Variants: Clinical Features and Insights From a Drosophila Model

Clinical Genetics, EarlyView.
Our Translational Loop integrates patient genetic data with Drosophila models to study disease mechanisms. We identified ACO2 variants in a patient linked to ICRD and show that our animal model mirrors key aspects of the disease. These insights help pinpoint therapeutic targets, advancing research toward treatments for rare genetic disorders.
Edgar Buhl, Suchika Garg, Marie Monaghan, Amy Preston, Marcus Likeman, Julianne Dare, Julie Evans, Lucie S. Taylor, Ian Berry, Kathryn Urankar, Paul G. D. Spry, Cathy Williams, Robert W. Taylor, Charlotte L. Alston, James J. L. Hodge, Anirban Majumdar   +15 more
wiley   +1 more source

Inborn errors of molybdenum metabolism: combined deficiencies of sulfite oxidase and xanthine dehydrogenase in a patient lacking the molybdenum cofactor.

, 1980
Jean L. Johnson, William R. Waud, K.V. Rajagopalan, M. Durán, F. A. Beemer, S.K. Wadman   +5 more
openalex   +1 more source

A Study of Maternal Patients Diagnosed with Inborn Errors of Metabolism Due to Positive Newborn Mass Screening in Their Newborns. [PDF]

Children (Basel), 2023
Onuki T, Hiroshima S, Sawano K, Shibata N, Ogawa Y, Nagasaki K, Nyuzuki H.   +6 more
europepmc   +1 more source

Testis‐Specific PDHA2 Is Required for Proper Meiotic Recombination and Chromosome Organisation During Spermatogenesis

Cell Proliferation, EarlyView.
PDHA2, a testis‐specific subunit of pyruvate dehydrogenase, is required for the conversion of pyruvate to acetyl‐CoA. Its absence results in decreased acetyl‐CoA and precursors for metabolites and energy during spermatogenesis. This results in decreased histone acetylation, defective chromosome structure and moderately reduced crossovers, ultimately ...
Guoqiang Wang, Kailun Fang, Yongliang Shang, Xu Zhou, Qiqi Shao, Si Li, Ping Wang, Charlie Degui Chen, Liangran Zhang, Shunxin Wang   +9 more
wiley   +1 more source