Results 51 to 60 of about 5,948 (186)
Jurnal Kedokteran dan Kesehatan, 2016 Pendahuluan:Sindroma Lesch-Nyhan ( LSN) adalah kumpulan gangguan metabolisme disebabkan oleh kekurangan enzim HPRT (hypoxanthineguaninephosphoribosyltransferase) yang menyebabkan produksi asam urat berlebihan.
Fahmi Hasan, Juliuz Anzar, HM. Nazir
doaj
Sex Selection: Morality, Harm, and the Law [PDF]
, 2007 Given that sex selection does not harm anyone, there is no moral justification for a legal ...
Dahl, Edgar
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Food Bioengineering, Volume 4, Issue 4, Page 546-563, December 2025.Screening and modification of probiotics that can efficiently reduce uric acid provide a new strategy for food‐grade hyperuricemia intervention. ABSTRACT Hyperuricemia has become one of the most prevalent global epidemics, significantly impacting both the economy and the health of individuals.
Le Wang +7 more
wiley +1 more source
Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome
Orphanet Journal of Rare Diseases, 2007 Deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity is an inborn error of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzymatic
Puig Juan G, Torres Rosa J
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World Journal of Otorhinolaryngology - Head and Neck Surgery, Volume 11, Issue 4, Page 548-567, December 2025.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
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
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The differential diagnosis of Huntington's disease-like syndromes: 'red flags' for the clinician [PDF]
, 2013 A growing number of progressive heredodegenerative conditions mimic the presentation of Huntington's disease (HD). Differentiating among these HD-like syndromes is necessary when a patient with a combination of movement disorders, cognitive decline ...
Bhatia, KP, Martino, D, Stamelou, M
core
Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.ABSTRACT Adenylosuccinate lyase deficiency (ADSLD) is a rare neurological disorder characterized by psychomotor retardation, autistic behaviors, and seizures, with no specific treatment available. ADSL catalyzes the transformation of succinylaminoimidazole carboxamide ribotide (SAICAr) to AICAR, and succinyl‐AMP (S‐AMP) to AMP.
Bérangère Rousselot‐Pailley +12 more
wiley +1 more source
European Journal of Neurology, Volume 32, Issue 10, October 2025.This review provides an updated clinical and genetic framework for the differential diagnosis of hereditary chorea. It guides neurologists through the interpretation of phenomenology, ancillary tests, and appropriate genetic techniques to achieve an accurate and timely diagnosis.
Jesús Pérez‐Pérez +5 more
wiley +1 more source
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
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