Found: 26
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Feasibility and Acceptability of a Newborn Screening Program Using Targeted Next-Generation Sequencing in One Maternity Hospital in Southern Belgium.
- Published in:
- Children, 2024, v. 11, n. 8, p. 926, doi. 10.3390/children11080926
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- Publication type:
- Article
Mid-Term Evolution of the Serum Acylcarnitine Profile in Critically Ill Survivors: A Metabolic Insight into Survivorship.
- Published in:
- Nutrients, 2023, v. 15, n. 16, p. 3595, doi. 10.3390/nu15163595
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- Publication type:
- Article
Serum Acylcarnitines Profile in Critically Ill Survivors According to Illness Severity and ICU Length of Stay: An Observational Study.
- Published in:
- Nutrients, 2023, v. 15, n. 10, p. 2392, doi. 10.3390/nu15102392
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- Publication type:
- Article
Altered Serum Acylcarnitines Profile after a Prolonged Stay in Intensive Care.
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- Nutrients, 2022, v. 14, n. 5, p. N.PAG, doi. 10.3390/nu14051122
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- Publication type:
- Article
Tryptophan catabolism increases in breast cancer patients compared to healthy controls without affecting the cancer outcome or response to chemotherapy.
- Published in:
- 2019
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- Publication type:
- journal article
Atypical myopathy in Père David's deer (Elaphurus davidianus) associated with ingestion of hypoglycin A.
- Published in:
- Journal of Animal Science, 2018, v. 96, n. 8, p. 3537, doi. 10.1093/jas/sky200
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- Publication type:
- Article
Acylcarnitine profile in Alaskan sled dogs during submaximal multiday exercise points out metabolic flexibility and liver role in energy metabolism.
- Published in:
- PLoS ONE, 2021, v. 16, n. 8, p. 1, doi. 10.1371/journal.pone.0256009
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- Publication type:
- Article
BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 7, p. 3003, doi. 10.1093/brain/awad010
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- Publication type:
- Article
Rapid Whole Genome Sequencing Diagnoses and Guides Treatment in Critically Ill Children in Belgium in Less than 40 Hours.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 4, p. 4003, doi. 10.3390/ijms24044003
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- Publication type:
- Article
Novel Loss of Function Variant in BCKDK Causes a Treatable Developmental and Epileptic Encephalopathy.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 4, p. 2253, doi. 10.3390/ijms23042253
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- Publication type:
- Article
Diagnostic et suivi de la phénylcétonurie par LC-MS-MS au Maroc.
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- Annales de Biologie Clinique, 2021, v. 79, n. 1, p. 49, doi. 10.1684/abc.2021.1619
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- Publication type:
- Article
Grazing Mares on Pasture with Sycamore Maples: A Potential Threat to Suckling Foals and Food Safety through Milk Contamination.
- Published in:
- Animals (2076-2615), 2021, v. 11, n. 1, p. 87, doi. 10.3390/ani11010087
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- Publication type:
- Article
Moroccan Experience of Targeted Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry.
- Published in:
- Pediatric Reports, 2023, v. 15, n. 1, p. 227, doi. 10.3390/pediatric15010018
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- Publication type:
- Article
Neonatal Thyroid-Stimulating Hormone Concentrations in Belgium: A Useful Indicator for Detecting Mild Iodine Deficiency?
- Published in:
- PLoS ONE, 2012, v. 7, n. 10, p. 1, doi. 10.1371/journal.pone.0047770
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- Publication type:
- Article
Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 178, doi. 10.1002/jimd.12332
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- Publication type:
- Article
Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy.
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- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 6, p. 1147, doi. 10.1007/s10545-015-9857-1
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- Publication type:
- Article
Three years pilot of spinal muscular atrophy newborn screening turned into official program in Southern Belgium.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-99496-2
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- Publication type:
- Article
Newborn screening of duchenne muscular dystrophy specifically targeting deletions amenable to exon-skipping therapy.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-82725-z
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- Publication type:
- Article
Tissue Specific Distribution and Activation of Sapindaceae Toxins in Horses Suffering from Atypical Myopathy.
- Published in:
- Animals (2076-2615), 2023, v. 13, n. 15, p. 2410, doi. 10.3390/ani13152410
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- Publication type:
- Article
Acylcarnitines profile best predicts survival in horses with atypical myopathy.
- Published in:
- PLoS ONE, 2017, v. 12, n. 8, p. 1, doi. 10.1371/journal.pone.0182761
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- Publication type:
- Article
Neonatal screening for sickle cell disease in Central Africa: a study of 1825 newborns with a new enzyme-linked immunosorbent assay test.
- Published in:
- Journal of Medical Screening, 2007, v. 14, n. 3, p. 113, doi. 10.1258/096914107782066211
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- Publication type:
- Article
Screening for sickle cell disease on dried blood: a new approach evaluated on 27,000 Belgian newborns.
- Published in:
- Journal of Medical Screening, 2006, v. 13, n. 3, p. 132, doi. 10.1258/096914106778440644
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- Publication type:
- Article
Financial cost and quality of life of patients with spinal muscular atrophy identified by symptoms or newborn screening.
- Published in:
- Developmental Medicine & Child Neurology, 2023, v. 65, n. 1, p. 67, doi. 10.1111/dmcn.15286
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- Publication type:
- Article
Acer pseudoplatanus : A Potential Risk of Poisoning for Several Herbivore Species.
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- Toxins, 2022, v. 14, n. 8, p. 512, doi. 10.3390/toxins14080512
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- Publication type:
- Article
Comorbidity of sickle cell trait and albinism: a cross-sectional survey in the Democratic Republic of the Congo.
- Published in:
- Pan African Medical Journal, 2020, v. 35, p. 1, doi. 10.11604/pamj.2020.35.127.21113
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- Publication type:
- Article
Belgian rare diseases plan in clinical pathology: identification of key biochemical diagnostic tests and establishment of reference laboratories and financing conditions.
- Published in:
- 2021
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- Publication type:
- journal article