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Last Updated: 03/06/2025
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Found 376 publications
A case of hyperlysinemia identified by urine newborn screening.
Journal: JIMD reports
Published: August 11, 2023
Realization of Amyloid-like Aggregation as a Common Cause for Pathogenesis in Diseases.
Journal: Life (Basel, Switzerland)
Published: May 22, 2023
Effect of caring leadership intervention program for first-line nurse managers on their managerial actions and nurse outcomes.
Journal: Journal of advanced nursing
Published: March 12, 2023
Identification of two novel variants of BCS1L gene in a patient with classical GRACILE syndrome.
Journal: Nephrology (Carlton, Vic.)
Published: May 23, 2022
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.
Journal: JIMD reports
Published: September 27, 2021
Cystinuria in Dogs and Cats: What Do We Know after Almost 200 Years?
Journal: Animals : an open access journal from MDPI
Published: July 08, 2021
Milestones in treatments for inborn errors of metabolism: Reflections on Where chemistry and medicine meet.
Journal: American journal of medical genetics. Part A
Published: April 10, 2021
Attenuated total reflection-Fourier transform infrared spectroscopy (ATR-FTIR) detection as a rapid and convenient screening test for cystinuria.
Journal: Clinica chimica acta; international journal of clinical chemistry
Published: December 30, 2020
Diversity of Phenotype and Genetic Etiology of 23 Cystinuria Saudi Patients: A Retrospective Study.
Journal: Frontiers in pediatrics
Published: June 03, 2020
Fasting reveals largely intact systemic lipid mobilization mechanisms in respiratory chain complex III deficient mice.
Journal: Biochimica et biophysica acta. Molecular basis of disease
Published: June 03, 2019
Inborn errors of metabolism in the 21st century: past to present.
Journal: Annals of translational medicine
Published: February 12, 2019
Last Updated: 03/06/2025