Cargando…

(1)H-NMR-based metabolic profiling identifies non-invasive diagnostic and predictive urinary fingerprints in 5q spinal muscular atrophy

BACKGROUND: 5q spinal muscular atrophy (SMA) is a disabling and life-limiting neuromuscular disease. In recent years, novel therapies have shown to improve clinical outcomes. Yet, the absence of reliable biomarkers renders clinical assessment and prognosis of possibly already affected newborns with...

Descripción completa

Detalles Bibliográficos
Autores principales:	Saffari, Afshin, Cannet, Claire, Blaschek, Astrid, Hahn, Andreas, Hoffmann, Georg F., Johannsen, Jessika, Kirsten, Romy, Kockaya, Musa, Kölker, Stefan, Müller-Felber, Wolfgang, Roos, Andreas, Schäfer, Hartmut, Schara, Ulrike, Spraul, Manfred, Trefz, Friedrich K., Vill, Katharina, Wick, Wolfgang, Weiler, Markus, Okun, Jürgen G., Ziegler, Andreas
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8527822/ https://www.ncbi.nlm.nih.gov/pubmed/34670613 http://dx.doi.org/10.1186/s13023-021-02075-x

Ejemplares similares

Parental Burden and Quality of Life in 5q-SMA Diagnosed by Newborn Screening
por: Kölbel, Heike, et al.
Publicado: (2022)

Phenylketonuria (PKU) Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex Vivo (1)H-NMR Analysis
por: Cannet, Claire, et al.
Publicado: (2023)

Novel challenges in spinal muscular atrophy – How to screen and whom to treat?
por: Saffari, Afshin, et al.
Publicado: (2018)

Mechanography in children: pediatric references in postural control
por: Pilz, Franziska, et al.
Publicado: (2022)

Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls: results of NMR metabolomics investigation
por: Cannet, Claire, et al.
Publicado: (2020)

Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening – Opportunity or Burden?(1)
por: Müller-Felber, Wolfgang, et al.
Publicado: (2020)

One Year of Newborn Screening for SMA – Results of a German Pilot Project
por: Vill, Katharina, et al.
Publicado: (2019)

Newborn screening for spinal muscular atrophy in Germany: clinical results after 2 years
por: Vill, Katharina, et al.
Publicado: (2021)

Identification of neurodegeneration indicators and disease progression in metachromatic leukodystrophy using quantitative NMR‐based urinary metabolomics
por: Laugwitz, Lucia, et al.
Publicado: (2022)

Newbornscreening SMA – From Pilot Project to Nationwide Screening in Germany
por: Müller-Felber, Wolfgang, et al.
Publicado: (2023)

High-sensitive cardiac troponin I (hs-cTnI) concentrations in newborns diagnosed with spinal muscular atrophy
por: Johannsen, Jessika, et al.
Publicado: (2023)

Quantitative Serum NMR Spectroscopy Stratifies COVID-19 Patients and Sheds Light on Interfaces of Host Metabolism and the Immune Response with Cytokines and Clinical Parameters
por: Rössler, Titus, et al.
Publicado: (2022)

Preventive effect of sensorimotor exercise and resistance training on chemotherapy-induced peripheral neuropathy: a randomised-controlled trial
por: Müller, Jana, et al.
Publicado: (2021)

Evaluation of Children with SMA Type 1 Under Treatment with Nusinersen within the Expanded Access Program in Germany
por: Pechmann, Astrid, et al.
Publicado: (2018)

Re: “Moving Forward After Two Deaths in a Gene Therapy Trial of Myotubular Myopathy” by Wilson and Flotte
por: Shieh, Perry B., et al.
Publicado: (2020)

Prognostic Value of Three Different Methods of MGMT Promoter Methylation Analysis in a Prospective Trial on Newly Diagnosed Glioblastoma
por: Christians, Arne, et al.
Publicado: (2012)

Identification of Candidate Protein Markers in Skeletal Muscle of Laminin-211-Deficient CMD Type 1A-Patients
por: Kölbel, Heike, et al.
Publicado: (2019)

Protein signature of human skin fibroblasts allows the study of the molecular etiology of rare neurological diseases
por: Hentschel, Andreas, et al.
Publicado: (2021)

Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age – a multicenter retrospective study
por: Saffari, Afshin, et al.
Publicado: (2019)

Uni- and crossmodal refractory period effects of event-related potentials provide insights into the development of multisensory processing
por: Johannsen, Jessika, et al.
Publicado: (2014)

Diagnosing X-linked Myotubular Myopathy – A German 20-year Follow Up Experience
por: Gangfuss, Andrea, et al.
Publicado: (2021)

Long Term Follow-Up on Pediatric Cases With Congenital Myasthenic Syndromes—A Retrospective Single Centre Cohort Study
por: Della Marina, Adela, et al.
Publicado: (2020)

Expansion of the mutational spectrum of BMPER leading to diaphanospondylodysostosis and description of the associated disease process
por: Braun, Frederik, et al.
Publicado: (2021)

Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK
por: Gallenmüller, Constanze, et al.
Publicado: (2014)

Microscopic and Biochemical Hallmarks of BICD2-Associated Muscle Pathology toward the Evaluation of Novel Variants
por: Unger, Andreas, et al.
Publicado: (2023)

Maleic Acid – but Not Structurally Related Methylmalonic Acid – Interrupts Energy Metabolism by Impaired Calcium Homeostasis
por: Tuncel, Ali Tunç, et al.
Publicado: (2015)

Challenges in Establishing the Diagnosis of PRRT2 ‐Related Dystonia: Recurrent Pathogenic Variants in a Homopolymeric Stretch
por: Dzinovic, Ivana, et al.
Publicado: (2023)

jCompoundMapper: An open source Java library and command-line tool for chemical fingerprints
por: Hinselmann, Georg, et al.
Publicado: (2011)

Development of practice and consensus-based strategies including a treat-to-target approach for the management of moderate and severe juvenile dermatomyositis in Germany and Austria
por: Hinze, Claas H., et al.
Publicado: (2018)

Towards Using Police Officers’ Business Smartphones for Contactless Fingerprint Acquisition and Enabling Fingerprint Comparison against Contact-Based Datasets
por: Kauba, Christof, et al.
Publicado: (2021)

High-Dimensional Cytometry Dissects Immunological Fingerprints of Idiopathic Inflammatory Myopathies
por: Nelke, Christopher, et al.
Publicado: (2022)

New Insights into the Neuromyogenic Spectrum of a Gain of Function Mutation in SPTLC1
por: Kölbel, Heike, et al.
Publicado: (2022)

ANO5-related muscle diseases: From clinics and genetics to pathology and research strategies
por: Christiansen, Jon, et al.
Publicado: (2022)

MR Fingerprinting—A Radiogenomic Marker for Diffuse Gliomas
por: Springer, Elisabeth, et al.
Publicado: (2022)

Improvements in Walking Distance during Nusinersen Treatment – A Prospective 3-year SMArtCARE Registry Study
por: Pechmann, Astrid, et al.
Publicado: (2023)

Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study
por: Pechmann, Astrid, et al.
Publicado: (2022)

QSAR-derived affinity fingerprints (part 2): modeling performance for potency prediction
por: Cortés-Ciriano, Isidro, et al.
Publicado: (2020)

Myositis: von der Diagnose zur Therapie
por: Schmidt, Jens, et al.
Publicado: (2023)

Clinical Evaluation of Pathognomonic Salivary Protease Fingerprinting for Oral Disease Diagnosis
por: Koller, Garrit, et al.
Publicado: (2021)

Geochemical wolframite fingerprinting – the likelihood ratio approach for laser ablation ICP-MS data
por: Martyna, Agnieszka, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_iepbl8alhj3ecna95b2flciuva