Lista de obras - Raquel Yahyaoui - Dominio Público Uruguay

A new metabolic disorder in human cationic amino acid transporter-2 that mimics arginase 1 deficiency in newborn screening

scientific article published on 21 February 2019

Amino Acid Transport Defects in Human Inherited Metabolic Disorders

artículo científico publicado en 2019

Analytical performance of a sensitive assay for cardiac troponin I with loci technology.

artículo científico publicado en 2010

Associations of Maternal Vitamin B12 Concentration in Pregnancy With the Risks of Preterm Birth and Low Birth Weight: A Systematic Review and Meta-Analysis of Individual Participant Data

artículo científico publicado en 2017

Birth Prevalence of Fatty Acid β-Oxidation Disorders in Iberia.

artículo científico publicado en 2014

Characterization of lipid profile by nuclear magnetic resonance spectroscopy (1H NMR) of metabolically healthy obese women after weight loss with Mediterranean diet and physical exercise.

artículo científico publicado en 2017

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project

artículo científico publicado en 2011

Enhanced interpretation of newborn screening results without analyte cutoff values.

artículo científico publicado en 2012

Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers

artículo científico publicado en 2017

Glycosylated hemoglobin as a hyperuricemia risk marker in general population

artículo científico publicado en 2011

Heptadecanoylcarnitine (C17) a novel candidate biomarker for newborn screening of propionic and methylmalonic acidemias

artículo científico publicado en 2015

High serum testosterone concentrations in a diabetic woman with end-stage renal disease.

artículo científico publicado en 2013

Implications of the Mediterranean diet and physical exercise on the lipid profile of metabolically healthy obese women as measured by nuclear magnetic resonance spectroscopy (1H NMR).

artículo científico publicado en 2018

Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants

scientific article published on 24 July 2018

Infantile sialidosis: natural history in a preterm infant with two new pathogenic mutations and new ocular findings

scientific article published on 13 November 2018

Initial Evaluation of Prospective and Parallel Assessments of Cystic Fibrosis Newborn Screening Protocols in Eastern Andalusia: IRT/IRT versus IRT/PAP/IRT

scientific article published on 03 September 2019

Metabolic Serendipities of Expanded Newborn Screening

artículo científico publicado en 2020

Neonatal carnitine palmitoyltransferase II deficiency associated with Dandy-Walker syndrome and sudden death.

artículo científico publicado en 2011

Newborn screening for homocystinurias: recent recommendations versus current practice

artículo científico publicado en 2019

Newborn screening for sickle cell disease in Europe: recommendations from a Pan-European Consensus Conference

artículo científico publicado en 2018

Quantification of urinary derivatives of Phenylbutyric and Benzoic acids by LC-MS/MS as treatment compliance biomarkers in Urea Cycle disorders

artículo científico publicado en 2019

Serum vitamin B12 levels during the first trimester of pregnancy correlate with newborn screening markers of vitamin B12 deficiency

artículo científico publicado en 2014

Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program

scientific article published on 09 January 2019

Woman with virilizing congenital adrenal hyperplasia and Leydig cell tumor of the ovary

artículo científico publicado en 2014

[Citrulline and arginine kinetics and its value as a prognostic factor in pediatric critically ill patients]

scientific article published on 16 February 2015

[D-lactic acidosis in a ten months old infant with short bowel syndrome: Early suspicion equals early treatment]

artículo científico publicado en 2015

[Proposed guidelines in the neonatal screening for congenital hypothyroidism in large premature newborns]

scientific article published on 25 February 2019

Lista de obras de Raquel Yahyaoui

A new metabolic disorder in human cationic amino acid transporter-2 that mimics arginase 1 deficiency in newborn screening

Amino Acid Transport Defects in Human Inherited Metabolic Disorders

Analytical performance of a sensitive assay for cardiac troponin I with loci technology.

Associations of Maternal Vitamin B12 Concentration in Pregnancy With the Risks of Preterm Birth and Low Birth Weight: A Systematic Review and Meta-Analysis of Individual Participant Data

Birth Prevalence of Fatty Acid β-Oxidation Disorders in Iberia.

Characterization of lipid profile by nuclear magnetic resonance spectroscopy (1H NMR) of metabolically healthy obese women after weight loss with Mediterranean diet and physical exercise.

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project

Enhanced interpretation of newborn screening results without analyte cutoff values.

Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers

Glycosylated hemoglobin as a hyperuricemia risk marker in general population

Heptadecanoylcarnitine (C17) a novel candidate biomarker for newborn screening of propionic and methylmalonic acidemias

High serum testosterone concentrations in a diabetic woman with end-stage renal disease.

Implications of the Mediterranean diet and physical exercise on the lipid profile of metabolically healthy obese women as measured by nuclear magnetic resonance spectroscopy (1H NMR).

Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants

Infantile sialidosis: natural history in a preterm infant with two new pathogenic mutations and new ocular findings

Initial Evaluation of Prospective and Parallel Assessments of Cystic Fibrosis Newborn Screening Protocols in Eastern Andalusia: IRT/IRT versus IRT/PAP/IRT

Metabolic Serendipities of Expanded Newborn Screening

Neonatal carnitine palmitoyltransferase II deficiency associated with Dandy-Walker syndrome and sudden death.

Newborn screening for homocystinurias: recent recommendations versus current practice

Newborn screening for sickle cell disease in Europe: recommendations from a Pan-European Consensus Conference

Quantification of urinary derivatives of Phenylbutyric and Benzoic acids by LC-MS/MS as treatment compliance biomarkers in Urea Cycle disorders

Serum vitamin B12 levels during the first trimester of pregnancy correlate with newborn screening markers of vitamin B12 deficiency

Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program

Woman with virilizing congenital adrenal hyperplasia and Leydig cell tumor of the ovary

[Citrulline and arginine kinetics and its value as a prognostic factor in pediatric critically ill patients]

[D-lactic acidosis in a ten months old infant with short bowel syndrome: Early suspicion equals early treatment]

[Proposed guidelines in the neonatal screening for congenital hypothyroidism in large premature newborns]