Phenotypic characterization of a pediatric cohort with cystinuria and usefulness of newborn screening.

Autor: Piñero-Fernández JA; Pediatric Nephrology Department, Hospital Clínico Universitario Virgen de La Arrixaca, Carretera Madrid-Cartagena S/N, 30120, Murcia, Spain. juanalberto.pinero@carm.es., Vicente-Calderón C; Pediatric Nephrology Department, Hospital Clínico Universitario Virgen de La Arrixaca, Carretera Madrid-Cartagena S/N, 30120, Murcia, Spain., Lorente-Sánchez MJ; Pediatric Nephrology Department, Hospital Clínico Universitario Virgen de La Arrixaca, Carretera Madrid-Cartagena S/N, 30120, Murcia, Spain., Juan-Fita MJ; Metabolic Diseases Unit, Centro de Bioquímica y Genética Clínica, Hospital Universitario Virgen de La Arrixaca, Murcia, Spain., Egea-Mellado JM; Metabolic Diseases Unit, Centro de Bioquímica y Genética Clínica, Hospital Universitario Virgen de La Arrixaca, Murcia, Spain., González-Gallego IC; Metabolic Diseases Unit, Centro de Bioquímica y Genética Clínica, Hospital Universitario Virgen de La Arrixaca, Murcia, Spain.

Publikováno v: Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2023 May; Vol. 38 (5), pp. 1513-1521. Date of Electronic Publication: 2022 Oct 13.

Unraveling the natural history of presymptomatic cystinuria.

Autor: Tokhmafshan, Fatima, Goodyer, Paul R.

Publikováno v: Current Opinion in Nephrology & Hypertension; May2023, Vol. 32 Issue 3, p297-304, 8p