Results 161 to 170 of about 7,545 (235)

The diagnosis and treatment of disorders of nucleic acid/nucleotide metabolism associated with epilepsy. [PDF]

Acta Epileptol
Shi Y, Wei Z, Feng Y, Gan Y, Li G, Deng Y.   +5 more
europepmc   +1 more source

Dopamine Transporter Deficiency Syndrome: A Rare Case of Infantile-Onset Dystonia-Parkinsonism. [PDF]

J Mov Disord
Madduluri B, Garapati D, Yareeda S.
europepmc   +1 more source

HPRT deficiency in cells and mice [PDF]

, 1993
Wu, Chao-Liang
core  

Autism spectrum disorder and inherited metabolic diseases: are there any common features? [PDF]

Pediatr Endocrinol Diabetes Metab
Lipiński P.
europepmc   +1 more source

Exploring the efficacy of deep brain stimulation in pediatric neurological disorders: a comprehensive review. [PDF]

Acta Epileptol
Wang T, Wang X, Wang Y, Zhou Y.
europepmc   +1 more source

Leveraging generative AI to assist biocuration of medical actions for rare disease. [PDF]

Bioinform Adv
Niyonkuru E, Caufield JH, Carmody LC, Gargano MA, Toro S, Whetzel PL, Blau H, Soto Gomez M, Casiraghi E, Chimirri L, Reese JT, Valentini G, Haendel MA, Mungall CJ, Robinson PN.   +14 more
europepmc   +1 more source

Orange-colored diapers as first sign of Lesch-Nyhan disease in an asymptomatic infant. [PDF]

, 2010
Donati, M. A., Gasperini, S, Gasperini, U, Guerrini, Renzo, La Marca, Giancarlo, Stagi, Stefano   +5 more
core  

The Cellular Genesis of Metabolic Syndrome and the Role of Anti-urate Drugs in Hyperuricemia Patients: A Systematic Review. [PDF]

Cureus
Malik MM, Ganatra N, Siby R, Kumar S, Khan S, Jayaprakasan SK, Cheriachan D, Desai HN, Sangurima L.   +8 more
europepmc   +1 more source

Predictive value of scoring systems for stone free status and complications before percutaneous nephrolithotomy in children. [PDF]

Sci Rep
Akdogan N, Deger M, Zubaroglu M, Yilmaz IO, Arikan MG, Satar N, Aridogan IA.   +6 more
europepmc   +1 more source

Molecular Pathways, Neural Circuits and Emerging Therapies for Self-Injurious Behaviour. [PDF]

Int J Mol Sci
Zhang K, Ibrahim GM, Venetucci Gouveia F.   +2 more
europepmc   +1 more source