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Correspondence on: "Discrepancy in Spinal Muscular Atrophy Incidence findings in newborn screening programs: the influence of carrier screening?" by Kay et al

Genetics in medicine, 2020-11, Vol.22 (11), p.1913-1914

2020

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New Pathophysiological Insights from Serum Proteome Profiling in Equine Atypical Myopathy

ACS omega, 2024-02, Vol.9 (6), p.6505-6526

2024

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BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening

Brain (London, England : 1878), 2023-07, Vol.146 (7), p.3003-3013

2023

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Untargeted Metabolomics Profiling Reveals Exercise Intensity-Dependent Alterations in Thoroughbred Racehorses’ Plasma after Routine Conditioning Sessions

ACS omega, 2023-12, Vol.8 (50), p.48557-48571

2023

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Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency

Journal of inherited metabolic disease, 2021-01, Vol.44 (1), p.178-192

2021

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Diagnosis and monitoring of phenylketonuria by LC-MS-MS in Morocco

Annales de biologie clinique (Paris), 2021-02, Vol.79 (1), p.49

2021

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

Medicina clinica, 2015-02, Vol.144 (4), p.181

2015

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Newborn screening of neuromuscular diseases

Neuromuscular disorders : NMD, 2021-10, Vol.31 (10), p.1070-1080

2021

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Newborn screening of duchenne muscular dystrophy specifically targeting deletions amenable to exon-skipping therapy

Scientific reports, 2021-02, Vol.11 (1), p.3011-9, Article 3011

2021

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Newborn screening for SMA in Southern Belgium

Neuromuscular disorders : NMD, 2019-05, Vol.29 (5), p.343-349

2019

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

Annales de biologie clinique (Paris), 2015-07, Vol.73 (4), p.427-442

2015

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Financial cost and quality of life of patients with spinal muscular atrophy identified by symptoms or newborn screening

Developmental medicine and child neurology, 2023-01, Vol.65 (1), p.67-77

2023

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Tryptophan catabolism increases in breast cancer patients compared to healthy controls without affecting the cancer outcome or response to chemotherapy

Journal of translational medicine, 2019-07, Vol.17 (1), p.239-239, Article 239

2019

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Reader response: Discrepancy in redetermination of SMN2 copy numbers in children with SMA

Neurology, 2020-07, Vol.95 (3), p.144-145

2020

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Acylcarnitine profile in Alaskan sled dogs during submaximal multiday exercise points out metabolic flexibility and liver role in energy metabolism

PloS one, 2021-08, Vol.16 (8), p.e0256009-e0256009

2021

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Rapid Whole Genome Sequencing Diagnoses and Guides Treatment in Critically Ill Children in Belgium in Less than 40 Hours

International journal of molecular sciences, 2023-02, Vol.24 (4), p.4003

2023

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Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium

Scientific reports, 2021-10, Vol.11 (1), p.19922-19922, Article 19922

2021

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Metabolomic Signatures Discriminate Horses with Clinical Signs of Atypical Myopathy from Healthy Co-grazing Horses

Journal of proteome research, 2021-10, Vol.20 (10), p.4681-4692

2021

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

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2009-08, Vol.877 (23), p.2412-2417

2009

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

International journal of neonatal screening, 2018-03, Vol.4 (1), p.8-8

2018

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Novel Loss of Function Variant in BCKDK Causes a Treatable Developmental and Epileptic Encephalopathy

International journal of molecular sciences, 2022-02, Vol.23 (4), p.2253

2022

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Altered Serum Acylcarnitines Profile after a Prolonged Stay in Intensive Care

Nutrients, 2022-03, Vol.14 (5), p.1122

2022

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

Mitochondrion, 2014-07, Vol.17, p.101-105

2014

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Acylcarnitines profile best predicts survival in horses with atypical myopathy

PloS one, 2017-08, Vol.12 (8), p.e0182761-e0182761

2017

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Outcome of publicly funded nationwide first-tier noninvasive prenatal screening

Correspondence on: "Discrepancy in Spinal Muscular Atrophy Incidence findings in newborn screening programs: the influence of carrier screening?" by Kay et al

New Pathophysiological Insights from Serum Proteome Profiling in Equine Atypical Myopathy

BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening

Untargeted Metabolomics Profiling Reveals Exercise Intensity-Dependent Alterations in Thoroughbred Racehorses’ Plasma after Routine Conditioning Sessions

Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency

Diagnosis and monitoring of phenylketonuria by LC-MS-MS in Morocco

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

Newborn screening of neuromuscular diseases

Newborn screening of duchenne muscular dystrophy specifically targeting deletions amenable to exon-skipping therapy

Newborn screening for SMA in Southern Belgium

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

Financial cost and quality of life of patients with spinal muscular atrophy identified by symptoms or newborn screening

Tryptophan catabolism increases in breast cancer patients compared to healthy controls without affecting the cancer outcome or response to chemotherapy

Reader response: Discrepancy in redetermination of SMN2 copy numbers in children with SMA

Acylcarnitine profile in Alaskan sled dogs during submaximal multiday exercise points out metabolic flexibility and liver role in energy metabolism

Rapid Whole Genome Sequencing Diagnoses and Guides Treatment in Critically Ill Children in Belgium in Less than 40 Hours

Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium

Metabolomic Signatures Discriminate Horses with Clinical Signs of Atypical Myopathy from Healthy Co-grazing Horses

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

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

Novel Loss of Function Variant in BCKDK Causes a Treatable Developmental and Epileptic Encephalopathy

Altered Serum Acylcarnitines Profile after a Prolonged Stay in Intensive Care

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

Acylcarnitines profile best predicts survival in horses with atypical myopathy

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