Found: 14
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Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples.
- Published in:
- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 6, p. 1043, doi. 10.1002/jimd.12671
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- Article
Optical Coherence Tomography: Retinal Imaging Contributes to the Understanding of Brain Pathology in Classical Galactosemia.
- Published in:
- Journal of Clinical Medicine, 2023, v. 12, n. 5, p. 2030, doi. 10.3390/jcm12052030
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- Article
Serum glial fibrillary acidic protein and neurofilament light chain in patients with early treated phenylketonuria.
- Published in:
- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.1011470
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- Publication type:
- Article
Optical Coherence Tomography to Assess Neurodegeneration in Phenylalanine Hydroxylase Deficiency.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.780624
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- Publication type:
- Article
Edgetic Perturbations Contribute to Phenotypic Variability in PEX26 Deficiency.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.726174
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- Publication type:
- Article
Age-dependent favorable visual recovery despite significant retinal atrophy in pediatric MOGAD: how much retina do you really need to see well?
- Published in:
- 2021
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- Publication type:
- journal article
Subcutaneous vitamin B12 administration using a portable infusion pump in cobalamin-related remethylation disorders: a gentle and easy to use alternative to intramuscular injections.
- Published in:
- 2021
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- Publication type:
- journal article
Retinal axonal degeneration in Niemann–Pick type C disease.
- Published in:
- Journal of Neurology, 2020, v. 267, n. 7, p. 2070, doi. 10.1007/s00415-020-09796-2
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- Publication type:
- Article
Diagnostic Challenges Using a 2-Tier Strategy for Methylmalonic Acidurias: Data from 1.2 Million Dried Blood Spots.
- Published in:
- Annals of Nutrition & Metabolism, 2020, v. 76, n. 4, p. 268, doi. 10.1159/000508838
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- Publication type:
- Article
Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.
- Published in:
- 2018
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- Publication type:
- journal article
Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial.
- Published in:
- 2017
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- Publication type:
- journal article
Homooligomerization of ABCA3 and its functional significance.
- Published in:
- International Journal of Molecular Medicine, 2016, v. 38, n. 2, p. 558, doi. 10.3892/ijmm.2016.2650
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- Publication type:
- Article
IL-37 requires the receptors IL-18Rα and IL-1R8 (SIGIRR) to carry out its multifaceted anti-inflammatory program upon innate signal transduction.
- Published in:
- Nature Immunology, 2015, v. 16, n. 4, p. 354, doi. 10.1038/ni.3103
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- Publication type:
- Article
Rad50-CARD9 interactions link cytosolic DNA sensing to IL-1β production.
- Published in:
- Nature Immunology, 2014, v. 15, n. 6, p. 538, doi. 10.1038/ni.2888
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- Publication type:
- Article