Results 71 to 80 of about 8,820 (262)

Robust Syndrome Extraction via BCH Encoding [PDF]

arXiv, 2023
Quantum data-syndrome (QDS) codes are a class of quantum error-correcting codes that protect against errors both on the data qubits and on the syndrome itself via redundant measurement of stabilizer group elements. One way to define a QDS code is to choose a syndrome measurement code, a classical block code that encodes the syndrome of the underlying ...
arxiv  

Efficient cDNA cloning by direct phenotypic correction of a mutant human cell line (HPRT-) using an Epstein-Barr virus derived cDNA expression vector. [PDF]

, 1991
Human cells are, in general, poor recipients of foreign DNA, which has severely hampered the cloning of genes by direct phenotypic correction of deficient human cell lines after DNA mediated gene transfer. In this communication a methodology is presented
Backendorf, C.M.P. (Claude), Belt, P.B.G.M., Hoeijmakers, J.H.J. (Jan), Jongmans, W., Putte, P. (Pieter) van de, Wit, J. (Jan) de   +5 more
core   +2 more sources

Lesch-Nyhan syndrome. Case report and review of literature

, 2020
Lesch–Nyhan syndrome (LNS) is a rare X linked recessive disorder, that occurs almost exclusively in males. The disorder is caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT).
S. Nasser, H. Nasser, Jerdev Michael, N. Ehsan, N Boshra, S. Soboh, W. Nasser   +6 more
semanticscholar   +1 more source

Spasmodic Dysphonia

World Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.
ABSTRACT Spasmodic dysphonia is a laryngeal dystonia that can present as adductor, abductor, or mixed types, with or without tremor. The etiology is not understood fully. Comprehensive evaluation is required to establish the diagnosis. Treatments include voice therapy, medications, botulinum toxin injection, laryngeal surgery, deep brain stimulation ...
Aaron J. Jaworek, Robert T. Sataloff
wiley   +1 more source

Characterisation of Challenging Behaviours and Associated Genetic and Neurological Features in Cardiofaciocutaneous Syndrome

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background Challenging behaviours such as self‐injury and aggression are prevalent among individuals with intellectual disability (ID), significantly impacting quality of life. Cardiofaciocutaneous syndrome (CFCS), a rare multisystem genetic disorder caused by variants in the BRAF, MAP2K1, MAP2K2, or KRAS genes, commonly presents with ID and ...
Dante J. Rogers, Rebekah L. Hudock, Adele F. Dimian, Josue Collazo‐Lopez, Ryan Shanley, Elizabeth I. Pierpont   +5 more
wiley   +1 more source

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

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

Optimal Single-Shot Decoding of Quantum Codes [PDF]

arXiv, 2023
We discuss single-shot decoding of quantum Calderbank-Shor-Steane codes with faulty syndrome measurements. We state the problem as a joint source-channel coding problem. By adding redundant rows to the code's parity-check matrix we obtain an additional syndrome error correcting code which addresses faulty syndrome measurements.
arxiv  

New biomarkers for early diagnosis of Lesch-Nyhan disease revealed by metabolic analysis on a large cohort of patients [PDF]

, 2015
International audienceBackground: Lesch-Nyhan disease is a rare X-linked neurodevelopemental metabolic disorder caused by a wide variety of mutations in the HPRT1 gene leading to a deficiency of the purine recycling enzyme hypoxanthine-guanine ...
Brassier, Anaïs, Cahu, Julie, Ceballos-Picot, Irène, Daignan-Fornier, Bertrand, Ea, Hang-Korng, Jais, Jean-Philippe, Le dantec, Aurélia, Ledroit, Morgan, Pinson, Benoit   +8 more
core   +2 more sources