Inborn Renal Aminoaciduria Latest Advances

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.

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

Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease.

Journal: Human molecular genetics

Published: June 24, 2019

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

Inborn Renal Aminoaciduria Latest Advances

Find the Latest Research About Inborn Renal Aminoaciduria

A case of hyperlysinemia identified by urine newborn screening.

A case of hyperlysinemia identified by urine newborn screening.

Realization of Amyloid-like Aggregation as a Common Cause for Pathogenesis in Diseases.

Realization of Amyloid-like Aggregation as a Common Cause for Pathogenesis in Diseases.

Effect of caring leadership intervention program for first-line nurse managers on their managerial actions and nurse outcomes.

Effect of caring leadership intervention program for first-line nurse managers on their managerial actions and nurse outcomes.

Identification of two novel variants of BCS1L gene in a patient with classical GRACILE syndrome.

Identification of two novel variants of BCS1L gene in a patient with classical GRACILE syndrome.

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.

Cystinuria in Dogs and Cats: What Do We Know after Almost 200 Years?

Cystinuria in Dogs and Cats: What Do We Know after Almost 200 Years?

Milestones in treatments for inborn errors of metabolism: Reflections on Where chemistry and medicine meet.

Milestones in treatments for inborn errors of metabolism: Reflections on Where chemistry and medicine meet.

Attenuated total reflection-Fourier transform infrared spectroscopy (ATR-FTIR) detection as a rapid and convenient screening test for cystinuria.

Attenuated total reflection-Fourier transform infrared spectroscopy (ATR-FTIR) detection as a rapid and convenient screening test for cystinuria.

Diversity of Phenotype and Genetic Etiology of 23 Cystinuria Saudi Patients: A Retrospective Study.

Diversity of Phenotype and Genetic Etiology of 23 Cystinuria Saudi Patients: A Retrospective Study.

Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease.

Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease.

Fasting reveals largely intact systemic lipid mobilization mechanisms in respiratory chain complex III deficient mice.

Fasting reveals largely intact systemic lipid mobilization mechanisms in respiratory chain complex III deficient mice.

Inborn errors of metabolism in the 21st century: past to present.

Inborn errors of metabolism in the 21st century: past to present.