Results 71 to 80 of about 5,948 (186)

Italian experience with Lesch-Nyhan patients and animal models of the disease

The EuroBiotech Journal, 2017
Lesch-Nyhan Disease (LND) is a rare X-linked genetic disease with hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency, due to mutation in the encoding gene, located on the X-chromosome.
Micheli Vanna, Bertelli Matteo
doaj   +1 more source

Current status of drug screening and disease modelling in human pluripotent stem cells [PDF]

, 2012
The emphasis in human pluripotent stem cell (hPSC) technologies has shifted from cell therapy to in vitro disease modelling and drug screening. This review examines why this shift has occurred, and how current technological limitations might be overcome ...
Crutchley, James, Denning, Chris, George, Vinoj, Kalra, Spandan, Matsa, Elena, Patel, Asha, Rajamohan, Divya   +6 more
core   +2 more sources

The Role of Metabolic Testing in the Diagnostic Evaluation of Adult NORSE: A Retrospective, Single‐Centre Study

European Journal of Neurology, Volume 32, Issue 6, June 2025.
ABSTRACT Background New‐onset refractory status epilepticus (NORSE) is a diagnostically challenging and severe epileptic presentation in which aetiology is an important predictor of outcome. This retrospective study aimed to investigate the utility of metabolic screening to determine the underlying cause in 42 patients with suspected NORSE, admitted to
Jennifer Kilmer, George Ransley, Elaine Murphy, Michael G. Hanna, Robert D. S. Pitceathly, Sanjeev Rajakulendran, Chiara Pizzamiglio   +6 more
wiley   +1 more source

Dystonic opisthotonus: A "red flag" for neurodegeneration with brain iron accumulation syndromes? [PDF]

, 2013
Back arching was reported in one of the very first patients with neurodegeneration with brain iron accumulation syndrome (NBIAs) published in 1936. However, recent reports have mainly focused on the genetic and imaging aspects of these disorders, and the
Aggarwal, A, Batla, A, Bhatia, KP, Bhatt, M, Houlden, H, Lai, SC, Lu, C-S, Schneider, SA, Stamelou, M, Yeh, T-H   +9 more
core  

Prospective Characterisation of Age‐Related Changes in Self‐Injurious Behaviour in a Sample of Children With Global Developmental Delay Aged 2–12 Years

Journal of Intellectual Disability Research, Volume 69, Issue 6, Page 465-479, June 2025.
ABSTRACT Background Self‐injurious behaviour (SIB) is a common problem among individuals with intellectual and developmental disabilities (IDDs) with important impacts on quality of life. Although some evidence suggests that SIB may increase with age, perhaps in a curvilinear pattern, this is primarily based on cross‐sectional studies.
Breanne J. Byiers, Jaclyn Gunderson, Andrea Huebner, Frank J. Symons   +3 more
wiley   +1 more source

Purine Metabolism and Dystonia: Perspectives of a Long‐Promised Relationship

Annals of Neurology, Volume 97, Issue 5, Page 809-825, May 2025.
Purine pool imbalance in purine metabolism disorders, such as Lesch–Nyhan disease, intersects with dystonia pathogenesis. The recent discovery of gain‐of‐function IMPDH2 pathogenic variants in patients with prominent dystonic manifestations provides new insights into the link between dystonia and purinergic system defects.
Ugo Sorrentino, Audrey G. O'Neill, Justin M. Kollman, Hyder A. Jinnah, Michael Zech   +4 more
wiley   +1 more source

Prenatal screening and counseling for genetic disorders [PDF]

, 2013
Introduction: The carriers of the same autosomal recessive disorder are usually unaware of onset of the genetic diseases in the children even if screenings are available for many of these disorders. In this paper, we report the experience of the Prenatal
CASTALDO, GIUSEPPE, MARTINELLI, PASQUALE, MARUOTTI, GIUSEPPE MARIA, SARNO, LAURA, SIMIOLI, STEFANIA   +4 more
core   +1 more source

Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review

Journal of Inherited Metabolic Disease, Volume 48, Issue 3, May 2025.
ABSTRACT Inherited metabolic diseases (IMDs) are genetic disorders that disrupt biochemical processes in the human body, due to pathogenic variants in genes encoding enzymes or transporters. While IMDs are mostly diagnosed in infancy or childhood, there is an increasing number of diagnoses in adult patients.
Maria‐Rita Moio, Julia Cordeiro Milke, Yannick Moutapam‐Ngamby‐Adriaansen, Arthur Minas Alberti, Marie Gernay, Eduardo Augusto Schutz, Ida Vanessa Doederlein Schwartz, François Maillot   +7 more
wiley   +1 more source

Guanine is an inhibitor of c-jun terminal kinases

Scientific Reports
The toxicity of purine bases adenine and guanine is mostly recognized when associated with inborn errors of purine metabolism such as Lesch-Nyhan syndrome, and metabolic diseases with a lifestyle component including gout.
Jessica Treeby, Sherihan El-Sayed, Samuel Morgan, Sophie Maddock, George Taylor, Stacey Warwood, Julian Selley, David Knight, Benjamin Saer, Richard A. Bryce, Jean-Michel Fustin   +10 more
doaj   +1 more source

Normal Uricemia in Lesch–Nyhan Syndrome and the Association with Pulmonary Embolism in a Young Child—A Case Report and Literature Review

Pediatrics and Neonatology, 2014
Deficiency of hypoxanthine phosphoribosyltransferase activity is a rare inborn error of purine metabolism with subsequent uric acid overproduction and neurologic presentations.
Jeng-Dau Tsai, Shan-Ming Chen, Chien-Heng Lin, Min-Sho Ku, Teng-Fu Tsao, Ji-Nan Sheu   +5 more
doaj   +1 more source