Xanthine calculi in a patient with Lesch-Nyhan syndrome and factor V Leiden treated with allopurinol: case report [PDF]
BMC Pediatrics, 2018 Background Lesch-Nyhan syndrome is a rare inborn error of purine metabolism marked by a complete deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT).
Lisa B. E. Shields +2 more
doaj +4 more sources
Red Blood Cells from Individuals with Lesch–Nyhan Syndrome: Multi-Omics Insights into a Novel S162N Mutation Causing Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency [PDF]
Antioxidants, 2023 Lesch–Nyhan syndrome (LN) is an is an X-linked recessive inborn error of metabolism that arises from a deficiency of purine salvage enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT).
Julie A. Reisz +5 more
doaj +4 more sources
An unanticipated difficult airway in Lesch-Nyhan syndrome
Journal of Anaesthesiology Clinical Pharmacology, 2012 An 11-year-old boy with Lesch-Nyhan syndrome presented to the emergency for fixation of a fractured femur. During induction of general anesthesia, unexpected difficult intubation was encountered with a 6.5-mm ID endotracheal tube and successively smaller
Rashmi Salhotra +5 more
doaj +3 more sources
Self-injurious behavior in a young child with lesch-nyhan syndrome [PDF]
Indian Journal of Psychological Medicine, 2016 Lesch-Nyhan syndrome (LNS) is a rare inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyl transferase-1. Few reports on behavioral aspects especially self-injurious behavior in LNS patients are available.
Satyakam Mohapatra, Alok Jyoti Sahoo
doaj +3 more sources
Lesch-nyhan syndrome in an Indian child
Indian Journal of Dermatology, 2015 Hypoxanthine guanine phosphoribosyl transferase-1 (HGPRT-1) leading to Lesch-Nyhan syndrome (LNS) is one of the important causes of self-mutilation.
Priyanka Chandekar +3 more
doaj +3 more sources
Paroxysmal hyperthermia, dysautonomia and rhabdomyolysis in a patient with Lesch–Nyhan syndrome [PDF]
JIMD Reports, 2021 Lesch–Nyhan syndrome is an x‐linked genetic disorder of purine metabolism that results in the overproduction of uric acid and neurologic deficits manifesting as intellectual disability, dystonia, other movement disorders and self‐mutilation.
Mandeep Rana +3 more
doaj +2 more sources
Congenital anomalies-associated Riga–Fede disease as an early manifestation of Lesch–Nyhan syndrome: rare entities in the same pediatric patient—a case report [PDF]
BMC Oral Health, 2022 Background Riga–Fede disease is a rare begnin disorder of the oral tissues, it can be associated with congenital anomalies and neurological disturbances.
Aliaa Abdelmoniem Bedeir Eita
doaj +2 more sources
Removable Appliance For Oral Self-Mutilation In Lesch-Nyhan Syndrome. A Case Report
Journal of Dental School, 2021 Objectives Lesch-Nyhan syndrome is a rare inherited disorder associated with self-harming behaviors, delayed mental and motor development, and disturbances such as dysarthria, choreoathetosis, and spasticity.
Soodeh Tahmasbi +3 more
doaj +2 more sources
Prenatal Diagnosis of Lesch-Nyhan Syndrome
Pediatric Neurology Briefs, 1995 The results of carrier and prenatal diagnosis for Lesch-Nyhan syndrome by carrier testing of 83 women and prenatal analysis of 26 pregnancies are reported from the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
J Gordon Millichap
doaj +2 more sources
Therapeutic gene correction for Lesch-Nyhan syndrome using CRISPR-mediated base and prime editing [PDF]
Molecular Therapy: Nucleic Acids, 2023 Lesch-Nyhan syndrome (LNS) is inherited as an X-linked recessive genetic disorder caused by mutations in hypoxanthine-guanine phosphoribosyl transferase 1 (HPRT1).
Gayoung Jang +8 more
doaj +2 more sources