Lista de obras - François Boemer - Dominio Público Uruguay

A next-generation newborn screening pilot study: NGS on dried blood spots detects causal mutations in patients with inherited metabolic diseases.

artículo científico publicado en 2017

Acer pseudoplatanus: A Potential Risk of Poisoning for Several Herbivore Species

artículo científico publicado en 2022

Acylcarnitines profile best predicts survival in horses with atypical myopathy

artículo científico publicado en 2017

Analytical validation based on total error measurement and cut-off interpretation of a neonatal screening TSH-immunoassay.

artículo científico publicado en 2008

Atypical Myopathy in Père David's Deer (Elaphurus davidianus) Associated with Ingestion of Hypoglycin A.

artículo científico publicado en 2018

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

Detection of hypoglycin A in the seeds of sycamore (Acer pseudoplatanus) and box elder (A. negundo) in New Zealand; the toxin associated with cases of equine atypical myopathy

artículo científico publicado en 2015

Diagnostic pitfall in antenatal manifestations of CPT II deficiency.

artículo científico

Enhanced interpretation of newborn screening results without analyte cutoff values.

artículo científico publicado en 2012

Evaluation of physiological amino acids profiling by tandem mass spectrometry

artículo científico publicado en 2013

Folinic acid treatment for schizophrenia associated with folate receptor autoantibodies.

artículo científico publicado en 2014

Hepatocyte transplantation using the domino concept in a child with tetrabiopterin nonresponsive phenylketonuria

scientific article published on 10 August 2012

Innovative PCR without DNA extraction for African sickle cell disease diagnosis.

artículo científico publicado en 2017

Mitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the MTCO1 gene

artículo científico publicado en 2014

Mitochondrial function is altered in horse atypical myopathy

artículo científico publicado en 2016

Molecular analysis in two siblings African patients with severe form of Hunter Syndrome: identification of a novel (p.Y54X) nonsense mutation

artículo científico publicado en 2007

Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy

artículo científico publicado en 2015

Neonatal Screening for Sickle Cell Disease in Belgium for More than 20 Years: An Experience for Comprehensive Care Improvement

scientific article published on 27 November 2018

Neonatal thyroid-stimulating hormone concentrations in Belgium: a useful indicator for detecting mild iodine deficiency?

artículo científico publicado en 2012

Newborn screening for SMA in Southern Belgium

scientific article published on 15 February 2019

Newborn screening for sickle cell disease using tandem mass spectrometry

artículo científico publicado en 2008

Quantification of hypoglycin A in serum using aTRAQ(®) assay.

artículo científico publicado en 2015

Raising Awareness of False Positive Newborn Screening Results Arising from Pivalate-Containing Creams and Antibiotics in Europe When Screening for Isovaleric Acidaemia

scientific article published on 10 February 2018

Samaras and seedlings of Acer pseudoplatanus are potential sources of hypoglycin A intoxication in atypical myopathy without necessarily inducing clinical signs

artículo científico publicado en 2015

Screening for sickle cell disease on dried blood: a new approach evaluated on 27,000 Belgian newborns

scientific article published on 01 January 2006

Surprising causes of C5-carnitine false positive results in newborn screening

artículo científico publicado en 2013

[C5-carnitine false positive results in newborn screening: what is the cause?]

scientific article published on 02 June 2014

[Quantification of physiological aminoacids using aTRAQ(®) kit: evaluation and implementation of new markers]

scientific article published on 01 July 2015

Lista de obras de François Boemer

A next-generation newborn screening pilot study: NGS on dried blood spots detects causal mutations in patients with inherited metabolic diseases.

Acer pseudoplatanus: A Potential Risk of Poisoning for Several Herbivore Species

Acylcarnitines profile best predicts survival in horses with atypical myopathy

Analytical validation based on total error measurement and cut-off interpretation of a neonatal screening TSH-immunoassay.

Atypical Myopathy in Père David's Deer (Elaphurus davidianus) Associated with Ingestion of Hypoglycin A.

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

Detection of hypoglycin A in the seeds of sycamore (Acer pseudoplatanus) and box elder (A. negundo) in New Zealand; the toxin associated with cases of equine atypical myopathy

Diagnostic pitfall in antenatal manifestations of CPT II deficiency.

Enhanced interpretation of newborn screening results without analyte cutoff values.

Evaluation of physiological amino acids profiling by tandem mass spectrometry

Folinic acid treatment for schizophrenia associated with folate receptor autoantibodies.

Hepatocyte transplantation using the domino concept in a child with tetrabiopterin nonresponsive phenylketonuria

Innovative PCR without DNA extraction for African sickle cell disease diagnosis.

Mitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the MTCO1 gene

Mitochondrial function is altered in horse atypical myopathy

Molecular analysis in two siblings African patients with severe form of Hunter Syndrome: identification of a novel (p.Y54X) nonsense mutation

Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy

Neonatal Screening for Sickle Cell Disease in Belgium for More than 20 Years: An Experience for Comprehensive Care Improvement

Neonatal thyroid-stimulating hormone concentrations in Belgium: a useful indicator for detecting mild iodine deficiency?

Newborn screening for SMA in Southern Belgium

Newborn screening for sickle cell disease using tandem mass spectrometry

Quantification of hypoglycin A in serum using aTRAQ(®) assay.

Raising Awareness of False Positive Newborn Screening Results Arising from Pivalate-Containing Creams and Antibiotics in Europe When Screening for Isovaleric Acidaemia

Samaras and seedlings of Acer pseudoplatanus are potential sources of hypoglycin A intoxication in atypical myopathy without necessarily inducing clinical signs

Screening for sickle cell disease on dried blood: a new approach evaluated on 27,000 Belgian newborns

Surprising causes of C5-carnitine false positive results in newborn screening

[C5-carnitine false positive results in newborn screening: what is the cause?]

[Quantification of physiological aminoacids using aTRAQ(®) kit: evaluation and implementation of new markers]