Results 111 to 120 of about 2,914 (160)

LESCH – NYHAN SYNDROME (LNS) - THE REVIEW

Daria Madycka, Weronika Skrzypek, Małgorzata Słaboń, Karol Stępniak, Wiktor Telega, Kinga Wnuczek, Joanna Wrona, Aleksandra Kaźmierczyk, Jędrzej Kęsik   +8 more
openalex   +2 more sources

Clinical utility gene card for: Lesch-Nyhan syndrome--update 2013. [PDF]

Eur J Hum Genet, 2013
Torres RJ, Puig JG, Ceballos-Picot I.
europepmc   +1 more source

Lesch-Nyhan syndrome: Report of a case.

, 1989
Nobumi Ogi, Toshihisa Kataura, Hajime Oda, Shigeki Ochiai, Kenichi Kurita, Tsuyoshi Kawai   +5 more
openalex   +2 more sources

LESCH-NYHAN SYNDROME: PATHOPHYSIOLOGY, CLINICAL MANIFESTATIONS, AND EMERGING THERAPEUTIC APPROACHES

Ayun Shahzad, Shahid Mahmood, Khizar Ali, Huma Zahra, Javed Ahmed, Iqra Ihsan
openalex   +1 more source

WCN24-2073 Xanthine Incrustation in JJ Stents: a Rare Complication of Urate-Lowering Therapy in Lesch-Nyhan Syndrome with Kidney Stones [PDF]

Rosa Caruso, Riccardo Bartoletti, Simone Malloggi, Matteo Pacini, Paolo Betti   +4 more
openalex   +1 more source

Specific features of the clinical and laboratory diagnosis of Lesch—Nyhan syndrome and current therapy options

, 2016
M. I. Yablonskaya, П. В. Новиков, Е. Г. Агапов, И. В. Золкина, E. A. Yuryeva, М. Н. Харабадзе   +5 more
openalex   +1 more source

Modeling rare genetic disease with gene-edited induced pluripotent stem cells: relevance of the starting stock line. [PDF]

Stem Cells Transl Med
Dinasarapu AR, Sutcliffe DJ, Ozel E, Thite A, Grychowski L, Visser JE, Hess EJ, Kolk SM, Jinnah HA.   +8 more
europepmc   +1 more source

Uncovering Proteomic and Biochemical Alterations in Plasma from Lesch-Nyhan Disease Patients. [PDF]

Cell Mol Neurobiol
Javed S, Braconi D, Nadwa H, Paffetti A, Jacomelli G, Micheli V, Marzocchi B, Santucci A, Bernardini G.   +8 more
europepmc   +1 more source

Symptomatic management and new therapeutic directions in Lesch‑Nyhan syndrome (Review)

Drishti Valechha, Charmi Jyotishi, Mansi Patel, Reeshu Gupta   +3 more
openalex   +2 more sources