Results 61 to 70 of about 7,545 (235)
EFFECTIVE STOMATOLOGICAL MAINTENANCE OF PEDIATRIC PATIENT WITH LESCH–NYHAN SYNDROME
Вопросы современной педиатрии, 2014 A rare clinical case of stomatological maintenance of 11-year old boy with Lesch-Nyhan syndrome (primary x-linked hyperuricemia) is demonstrated in the article. In order to decrease trauma risk of oral cavity organs and soft tissues (due to autoagression)
N. V. Tarasova, V. G. Galonskii
doaj +1 more source
Physiological levels of folic acid reveal purine alterations in Lesch-Nyhan disease [PDF]
, 2020 Lesch-Nyhan disease (LND), caused by a deficient salvage purine pathway, is characterized by severe neurological manifestations and uric acid overproduction.
Fu, Rong +6 more
core +1 more source
Discovering functionally important sites in proteins
Nature Communications, 2023 Proteins play important roles in biology, biotechnology and pharmacology, and missense variants are a common cause of disease. Discovering functionally important sites in proteins is a central but difficult problem because of the lack of large ...
Matteo Cagiada +6 more
doaj +1 more source
Habitual biting of a finger in a child
Indian Journal of Paediatric Dermatology, 2017 A 3-year-old male child was brought by his parents with a nonhealing ulcer on the right middle finger having no significant history except for an injury sustained to the right elbow in December 2013. On further probing, the mother revealed that the child
K N Sarveswari +2 more
doaj +1 more source
American Research Journal of Pediatrics, 2018 Lesch Nyhan, Syndrome Siriwardena
openalex +2 more sources
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
Self-Injurious Behaviour in SCA17: A New Clinical Observation [PDF]
, 2019 Background: Self-injurious behaviour has historically been associated with borderline personality disorder. Nevertheless, over recent years, it has been reported in numerous neurological syndromes, especially hyperkinesias.
Bhatia, Kailash P. +2 more
core +4 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 +6 more
semanticscholar +1 more source
Journal of Intellectual Disability Research, Volume 69, Issue 8, Page 682-692, August 2025.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 +5 more
wiley +1 more source
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 +5 more
doaj +1 more source