Results 81 to 90 of about 766 (123)

Use of whole-exome sequencing to identify novel monogenic gene mutations and genotype-phenotype correlations in Chinese Han children with urolithiasis. [PDF]

Front Genet, 2023
Wang Z, He T, Liu L, Tong F, Li C, Zhao Y, Li Y.   +6 more
europepmc   +1 more source

Urolithiasis in Children-Clinical Picture, Pathogenesis, and Diagnostic Approach. [PDF]

Biomolecules
Pięta J, Szyszka M, Lipiński P, Skrzypczyk P.   +3 more
europepmc   +1 more source

[Long-standing myalgia and hypouricemia in a young woman : Case report and review of the literature]. [PDF]

Z Rheumatol
Venyte R, Schuster-Amft C, Behrendt F, Nyfeler N, Parmar K, Lorscheider J, Bonati LH, Walker UA, Gerth HU.   +8 more
europepmc   +1 more source

Investigation of the molecular genetic basis of molybdenum hydroxylase deficiencies in rats and man [PDF]

Jackson, Joanne
core   +5 more sources

Successful Kidney Transplantation in a Young Male with Type 2 Xanthinuria. [PDF]

Indian J Nephrol
Kota M, Madarasu RC, Penmetsa VV, Gutta S, Naidu A.   +4 more
europepmc   +1 more source

Rapid Clinical Improvement Temporally Associated with Off-Label LetiFend^® Vaccination in Canine Leishmaniasis: A Case Report. [PDF]

Vaccines (Basel)
Werner T, Rămneanţu M, Naucke TJ.
europepmc   +1 more source

Spectrum of inherited metabolic disorders diagnosed through newborn screening and symptomatic referrals in Eastern Türkiye. [PDF]

Mol Genet Metab Rep
Arslan S, Ekinci Uğan F, Yaralı O, Kahveci H.   +3 more
europepmc   +1 more source

Clinical Exome Sequencing in Pediatric Patients. [PDF]

Cureus
Görükmez O, Görükmez Ö, Topak A, Arsoy HA.   +3 more
europepmc   +1 more source

Study protocol for a phase II clinical trial evaluating the safety and efficacy of favipiravir injection combined with oseltamivir in influenza treatment. [PDF]

BMJ Open
Hikida S, Nomoto H, Uemura Y, Suzuki T, Izumikawa K, Ohge H, Yamato M, Kato Y, Hase R, Aoyagi T, Hagiya H, Nukui Y, Yamamoto K, Takesue Y, Sawada K, Shimizu Y, Miyamoto S, Tamura N, Takahashi K, Saito S, Miyazaki K, Morino E, Tokita D, Ohmagari N.   +23 more
europepmc   +1 more source

Repurposing Purine Analog Antivirals to Modulate Serum Uric Acid: Evidence From Real-World Data. [PDF]

Clin Transl Sci
Magagnoli J, Cummings TH, Wyatt MD, McInnes C, Ambati J, Sutton SS.   +5 more
europepmc   +1 more source