Results 41 to 50 of about 1,232,023 (188)
Treatment of motor and behavioural symptoms in three Lesch-Nyhan patients with intrathecal baclofen [PDF]
, 2014 Current therapies for the Lesch-Nyhan Syndrome (OMIM: 300322) are off-label and experimental, often leading to inconsistent outcomes. We here report the effects of an intrathecal baclofen therapy, carried out at the Scientific Institute Eugenio Medea ...
Marco Pozzi +11 more
core +2 more sources
Lesch-Nyhan disease in two families from Chiloe island with mutations in the HPRT1 gene [PDF]
, 2017 Lesch-Nyhan disease (LND) is a rare X-linked inherited neurogenetic disorder of purine metabolism in which the enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt) is defective.
Naviaux, Robert K. +9 more
core +1 more source
CT, US and MRI of xanthine urinary stones: in-vitro and in-vivo analyses
BMC Urology, 2020 Background Xanthine urinary stones are a rare entity that may occur in patients with Lesch–Nyhan syndrome receiving allopurinol. There is little literature describing imaging characteristics of these stones, and the most appropriate approach to imaging ...
Stephanie B. Shamir +4 more
doaj +1 more source
The diagnosis of the carrier state for the Lesch--Nyhan syndrome
, 1975 Skin biopsies from the mother of a classical case of the Lesch-Nyhan syndrome grew only wild type fibroblasts. This suggested that she is not a heterozygous carrier of the mutant X-linked structural gene which causes the syndrome, and that a fresh ...
Watts, W E +5 more
core +5 more sources
Lesch-Nyhan Syndrome: Evaluation of a Modified Bite Device to Prevent Bite Injuries
Applied Sciences, 2020 Lesch-Nyhan syndrome (LNS) is a serious form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary purine metabolism disorder. The prevalence reported in the literature is 1/380,000 to 235,000 births.
Gaetano Ierardo +4 more
doaj +1 more source
A Review of Behavioral Treatments Used for Lesch-Nyhan Syndrome
, 2000 Lesch-Nyhan syndrome is a genetic disorder resulting in hyperuricemia, choreoathetosis, mental retardation, and self-mutilation. The most salient feature of this disorder is the self-injurious behavior (SIB).
Houlihan, Daniel, Olson, Lynn
core +1 more source
Genetic Etiologies of Dystonia with Anarthria/Aphonia
Movement Disorders Clinical Practice, EarlyView.Abstract Background Dystonia with anarthria and/or aphonia (DAnAp) represents a distinctive phenotype manifesting across lifespan. Frequently associated with genetic disorders, early recognition is critical for diagnosis and management. Objectives To provide practical recommendations for the clinical evaluation of patients with DAnAp, enhancing ...
Anika Ménétrey +7 more
wiley +1 more source
Developmental Medicine &Child Neurology, EarlyView.Abstract Aim To examine longitudinal changes in self‐selected goals and dystonia severity over 1 year, 2 years, and 5 years after deep brain stimulation (DBS) in children and young people (CYP) with dystonia and other hyperkinetic movement disorders, using CYP and caregiver reports.
Sinead Barkey +9 more
wiley +1 more source
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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