Results 101 to 110 of about 7,545 (235)

Prenatal Diagnosis of Lesch-Nyhan Syndrome

, 1993
Lesch-Nyhan syndrome (LNS) is an X-linked recessive disorder that is transmitted by asymptomatic carrier females [1, 2]. Except for one case of a female with the LNS [3], in every family reported, transmission of the disease has been through the female to the affected male.
J. G. Puig, F. A. Mateos
openaire   +3 more sources

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, Ahmed M, Najim M, Rabee R, Ashraf M, Sherwani Y, Anjum O   +6 more
doaj  

Endocrine disorders in adult patients with inherited metabolic diseases: Their diagnosis and long‐term management

Clinical Endocrinology, Volume 101, Issue 5, Page 562-568, November 2024.
Adrian H. Heald, John Bassett, Nuria Puente‐Ruiz, Peter Clayton, Karolina M. Stepien   +4 more
wiley   +1 more source

Nyhan-Lesch Syndrome and Juvenile Gout (Two Cases) [PDF]

, 1968
Rodney Bluestone, E. G. L. Bywaters, Lennox Holt   +2 more
openalex   +1 more source

A rare occurrence of xanthine urolithiasis in siblings with Lesch–Nyhan syndrome treated with Allopurinol—a case report

Bulletin of the National Research Centre
Introduction Lesch–Nyhan syndrome (LNS) is an X-linked disorder affecting the metabolism of the purine salvage pathway leading to excessive serum uric acid production.
Roberto Jodorkovsky, Saloni Trivedi, Asama Rana, Mitchell Thomae   +3 more
doaj   +1 more source

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.
europepmc   +1 more source

Proceedings: Necropsy findings in a case of Lesch-Nyhan syndrome. [PDF]

, 1975
V Mahnovski, S Dozić, D Vulović, B Marjanović, Goran Tasić   +4 more
openalex   +1 more source

Self-injurious behaviour in young children with Lesch-Nyhan syndrome [PDF]

, 2001
Scott S. Hall, Chris Oliver, Glyn Murphy
openalex   +3 more sources

Generation of an iPSC line (SDQLCHi030-A) derived from PBMCs of a patient with Lesch-Nyhan syndrome caused by HPRT1 mutation

Stem Cell Research
Lesch-Nyhan syndrome (LNS, MIM300322) is a rare inherited disorder caused by mutations in HPRT1 gene. Here we describe the generation of induced pluripotent stem cells (iPSCs) from an infected child carrying the HPRT1 mutation c.508C > T(p.R170X) by ...
Yue Li, Huawei Zhang, Jingyun Guan, Bin Wang, Haiyan Zhang, Yi Liu, Zhongtao Gai   +6 more
doaj  

A new mutation at exon 2 of hprt1 locus causing lesch-nyhan syndrome

Innovaciencia, 2016
Introduction: Lesch-Nyhan síndrome (LNS) is an X-linked recessive inborn error of metabolism, due to deficiency of the enzyme Hypoxanthine-guanine-phosphoribosyl transferase (HGPRT; EC.2.4.2.8) resulting in hyperuricemia, neurological and behavioural ...
Adriana María Gil Zapata, Adriana Castillo Pico, Leonor Gusmão, António Amorim, Fernando Rodríguez Sanabria   +4 more
doaj   +1 more source