Renal Failure, 2020 Background Lesch–Nyhan disease (LND) is a rare X-linked recessive inborn error of purine metabolism. Late diagnosis of LND may cause significant morbidity. LND cases have never been reported in Indonesia.
Cahyani Gita Ambarsari +6 more
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A case of attempted bilateral self-enucleation in a patient with bipolar disorder
Mental Illness, 2017 Attempted and completed self-enucleation, or removal of one’s own eyes, is a rare but devastating form of self-mutilation behavior. It is often associated with psychiatric disorders, particularly schizophrenia, substance induced psychosis, and bipolar ...
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Lesch-Nyhan syndrome: a case report. [PDF]
J Korean Assoc Oral Maxillofac Surg, 2023 Park HI, Kim GH, Ahn KM.
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A novelde novo mutation in HPRT gene responsible for Lesch-Nyhan syndrome (HPRTosaka) [PDF]
, 1996 Yasukazu Yamada +5 more
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The trend toward digital in medical education – playing devil's advocate
Advances in Medical Education and Practice, 2015 Osama Al-jibury, Maroof Ahmed, Muhammad Najim, Riham Rabee, Muhammad Ashraf, Yusuf Sherwani, Osama AnjumDepartment of Medicine, Imperial College Medical School, London, UKDigitalization of medical resources has completely revolutionized medical education.
Al-Jibury O +6 more
doaj
Epidemiology and types of urolithiasis
Pediatria i Medycyna Rodzinna, 2019 Urolithiasis is a lifestyle disease. Sex, age, race, place of residence (geographical region), chronic diseases, lifestyle (including diet) and various genetic factors contribute to the risk of calculus formation within the urinary tract.
Agnieszka Szmigielska +2 more
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Utilization of Purines by an HPRT Variant in an Intelligent, Nonmutilative Patient with Features of the Lesch-Nyhan Syndrome [PDF]
, 1979 Bohdan Bakay +4 more
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Comments regarding the paper "Lesch-Nyhan syndrome: a case report" published recently by Park et al. in J Korean Assoc Oral Maxillofac Surg. [PDF]
J Korean Assoc Oral Maxillofac Surg, 2023 Shapira J.
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Oral Self-Mutilation in Lesch-Nyhan Syndrome: A Case Report. [PDF]
Cureus, 2022 Ferrão J +3 more
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Identification of a single nucleotide change in the hypoxanthine-guanine phosphoribosyltransferase gene (HPRTYale) responsible for Lesch-Nyhan syndrome. [PDF]
, 1989 Shin Fujimori +3 more
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