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Neurología
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Con una o todas las palabras
(escribir en inglés)
 
Ej.1: Adipokines Ej.2: Adipokines or Musculoskeletal
Con la frase exacta
(inglés)

Ej.3: Adipokines and Cardiovascular Systems
Con todas de las palabras
(inglés)

Ej.4: Adipokines and Cardiovascular and Systems
Sin las palabras
(inglés)

Ej.5: not Cardiovascular Systems
Scientific reports
Selección SIIC: 16 Mayo, 2024
Scientific reports

Quantification of attenuation and speckle features from endoscopic OCT images for the diagnosis of human brain glioma.

Quantification of attenuation and speckle features from endoscopic OCT images for the diagnosis of human brain glioma.

Fuente:Scientific Reports

Extracto: The results reveal that it is reasonable to include the local brightness fluctuations at first two wavelet decomposition levels in the analysis of OCT brain images aimed at neurosurgical diagnosis.

Cita:Sci Rep 2024 May 10; 14 (1) : 10722.

Autor/es:Aleksandrova, P V (a)
Zaytsev, K I (b)

institución:(a) Prokhorov General Physics Institute of the Russian Academy of Sciences, Moscow, Russia, 119991. aleksandrovapolina98@gmail.com.
(b) Prokhorov General Physics Institute of the Russian Academy of Sciences, Moscow, Russia, 119991.

Conflicto:Los autores declaran no tener conflictos de interés con la investigación

Formato:Informe virtual

Idioma:Inglés

País de fuente:Reino Unido

Sitio web:http://dx.doi.org/10.1038/s41598-024-61292-z

Nature communications
Selección SIIC: 16 Mayo, 2024
Nature communications

Molecular basis of bacterial DSR2 anti-phage defense and viral immune evasion.

Molecular basis of bacterial DSR2 anti-phage defense and viral immune evasion.

Fuente:Nature Communications

Extracto: Thus, our results provide important insights into the assembly, activation and inhibition of the DSR2 anti-phage defense system.

Cita:Nat Commun 2024 May 10; 15 (1) : 3954.

Autor/es:Huang, Jiafeng (a)
Zhu, Keli (b)

institución:(a) Key Laboratory of Molecular Medicine and Biotherapy, Aerospace Center Hospital, School of Life Science, Beijing Institute of Technology, Beijing, 100081, China. jfhuang@ibp.ac.cn.
(b) Key Laboratory of Biomacromolecules (CAS), National Laboratory of Biomacromolecules, CAS Center for Excellence in Biomacromolecules, Institute of Biophysics, Chinese Academy of Sciences, Beijing, 100101, China. jfhuang@ibp.ac.cn.

Conflicto:Los autores declaran no tener conflictos de interés con la investigación

Formato:Informe virtual

Idioma:Inglés

País de fuente:Reino Unido

Sitio web:http://dx.doi.org/10.1038/s41467-024-48291-4

Selección SIIC: 16 Mayo, 2024

Consensus-building conversation leads to neural alignment.

Consensus-building conversation leads to neural alignment.

Fuente:Nature Communications

Extracto: Socially central participants were also more likely to become neurally aligned to others in their groups.

Cita:Nat Commun 2024 May 10; 15 (1) : 3936.

Autor/es:Sievers, Beau (a)
Welker, Christopher (b)

institución:(a) Department of Psychological and Brain Sciences, Dartmouth College, Hanover, NH, 03755, USA. beau@beausievers.com.
(b) Department of Psychology, Stanford University, Stanford, CA, 94305, USA. beau@beausievers.com.

Conflicto:Los autores declaran no tener conflictos de interés con la investigación

Formato:Informe virtual

Idioma:Inglés

País de fuente:Reino Unido

Sitio web:http://dx.doi.org/10.1038/s41467-023-43253-8

Scientific reports
Selección SIIC: 16 Mayo, 2024
Scientific reports

Regional nigral neuromelanin degeneration in asymptomatic leucine-rich repeat kinase 2 gene carrier using MRI.

Regional nigral neuromelanin degeneration in asymptomatic leucine-rich repeat kinase 2 gene carrier using MRI.

Fuente:Scientific Reports

Extracto: Asymptomatic LRRK2 carriers showed globally decreased SNc volume and CNR suggesting early nigral neurodegeneration in these subjects at risk of developing PD.

Claves:Asymptomatic leucine-rich repeat kinase 2 (LRRK2) gene carrier, MRI, Neuromelanin, Parkinson’s disease (PD), Substantia nigra (SN)

Cita:Sci Rep 2024 May 9; 14 (1) : 10621.

Autor/es:Gao, Linlin (a)
Gaurav, Rahul (b)

institución:(a) Department of General Practice, Tianjin Union Medical Center, Tianjin, China.
(b) Paris Brain Institute - ICM, INSERM U1127, CNRS UMR 7225, Pitié-Salpêtrière Hospital, Sorbonne Université, Paris, France. rahul.gaurav@icm-institute.org.

Conflicto:Los autores declaran no tener conflictos de interés con la investigación

Formato:Informe virtual

Idioma:Inglés

País de fuente:Reino Unido

Sitio web:http://dx.doi.org/10.1038/s41598-024-59074-8

Communications biology
Selección SIIC: 16 Mayo, 2024
Communications biology

Metabolic network analysis of pre-ASD newborns and 5-year-old children with autism spectrum disorder.

Metabolic network analysis of pre-ASD newborns and 5-year-old children with autism spectrum disorder.

Fuente:Communications Biology

Extracto: These results revealed previously unknown metabolic phenotypes, identified new developmental states of the metabolic correlation network, and underscored the role of mitochondrial functional changes, purine metabolism, and purinergic signaling in autism spectrum disorder.

Cita:Commun Biol 2024 May 10; 7 (1) : 536.

Autor/es:Lingampelly, Sai Sachin (a)
Naviaux, Jane C (b)

institución:(a) The Mitochondrial and Metabolic Disease Center, University of California, San Diego School of Medicine, San Diego, CA, 92103-8467, USA.
(b) Department of Medicine, University of California, San Diego School of Medicine, San Diego, CA, 92103-8467, USA.

Formato:Informe virtual

Idioma:Inglés

País de fuente:Reino Unido

Sitio web:http://dx.doi.org/10.1038/s42003-024-06102-y

Nature communications
Selección SIIC: 16 Mayo, 2024
Nature communications

Sex affects transcriptional associations with schizophrenia across the dorsolateral prefrontal cortex, hippocampus, and caudate nucleus.

Sex affects transcriptional associations with schizophrenia across the dorsolateral prefrontal cortex, hippocampus, and caudate nucleus.

Fuente:Nature Communications

Extracto: These findings emphasize the importance of sex-informed analysis of sexually dimorphic traits, inform personalized therapeutic strategies in schizophrenia, and highlight the need for increased female samples for schizophrenia analyses.

Cita:Nat Commun 2024 May 10; 15 (1) : 3980.

Autor/es:Benjamin, Kynon J M (a)
Arora, Ria (b)

institución:(a) Lieber Institute for Brain Development, Baltimore, MD, USA. KynonJade.Benjamin@libd.org.
(b) Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD, USA. KynonJade.Benjamin@libd.org.

Conflicto:D.R.W. serves on the Scientific Advisory Boards of Sage Therapeutics and Pasithea Therapeutics. J.E.K. is a member of a drug monitoring committee for an antipsychotic drug trial for Merck. All other authors declare no competing interests.

Formato:Informe virtual

Idioma:Inglés

País de fuente:Reino Unido

Sitio web:http://dx.doi.org/10.1038/s41467-024-48048-z

Selección SIIC: 16 Mayo, 2024

Herpes simplex encephalitis due to a mutation in an E3 ubiquitin ligase.

Herpes simplex encephalitis due to a mutation in an E3 ubiquitin ligase.

Fuente:Nature Communications

Extracto: Moreover, the introduction of p.R841H in wild type cells reduced such immunity, suggesting that this mutation is linked to the observed phenotypes.

Cita:Nat Commun 2024 May 10; 15 (1) : 3969.

Autor/es:Bibert, Stéphanie (a)
Quinodoz, Mathieu (b)

institución:(a) Infectious Diseases Service, Department of Medicine, University Hospital and University of Lausanne, Lausanne, Switzerland.
(b) Institute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.

Conflicto:Los autores declaran no tener conflictos de interés con la investigación

Formato:Informe virtual

Idioma:Inglés

País de fuente:Reino Unido

Sitio web:http://dx.doi.org/10.1038/s41467-024-48287-0

BMC geriatrics
Selección SIIC: 16 Mayo, 2024
BMC geriatrics

Association of dietary selenium intake and all-cause mortality of Parkinson's disease and its interaction with blood cadmium level

Association of dietary selenium intake and all-cause mortality of Parkinson's disease and its interaction with blood cadmium level

Fuente:Bmc Geriatrics

Tipo de trabajo:Estudio de cohortes

Extracto: Moderate increase of selenium intake had a protective effect on PD mortality especially in high blood cadmium populations.

Claves:Cadmium, Dose–response, Interaction, NHANES, Parkinson’s disease, Selenium

Cita:BMC Geriatr 2024 May 10; 24 (1) : 415.

Autor/es:Tu, Xinyu (a)
Wu, Na (b)

institución:(a) School of Medicine, Shanghai Jiao Tong University, No.227 Chongqing Rd (S), Shanghai, China.
(b) Department of neurology, Xinhua Hospital, Shanghai Jiao tong University School of Medicine, No.1665 Kongjiang Rd, Shanghai, China.

Conflicto:Los autores declaran no tener conflictos de interés con la investigación

Formato:Informe virtual

Idioma:Inglés

País de fuente:Reino Unido

Sitio web:http://dx.doi.org/10.1186/s12877-024-05000-6

Human genomics
Selección SIIC: 16 Mayo, 2024
Human genomics

Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India.

Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India.

Fuente:Human Genomics

Extracto: We developed a flexible and scalable assay to reliably detect genetic causes of 29 common LSDs in India. The assay consolidates the detection of multiple variant types in multiple sample types while having improved diagnostic yield at same or lower cost compared to current clinical paradigm.

Claves:Cost effective, Diagnostic yield, Dried blood spot, Lysosomal storage disorders, smMIP probes

Cita:Hum Genomics 2024 May 10; 18 (1) : 46.

Autor/es:Sheth, Harsh (a)
Nair, Aadhira (b)

institución:(a) FRIGE Institute of Human Genetics, FRIGE House, Jodhpur Village Road, Satellite, Ahmedabad, India, 380015. harsh.sheth@frige.co.in.
(b) FRIGE Institute of Human Genetics, FRIGE House, Jodhpur Village Road, Satellite, Ahmedabad, India, 380015.

Conflicto:Harsh Sheth, Aadhira Nair and Jayesh Sheth are named as inventors on the patent describing the use of smMIP based target capture and associated computational analyses for simultaneous detection of single nucleotide variants and copy number variants in germline DNA. The patent is held by FRIGE’s Institute of Human Genetics (Patent ID: TEMP/E-1/30548/2022-MUM, submitted in May 2022). All other authors... masnoticias.gif

Formato:Informe virtual

Idioma:Inglés

País de fuente:Reino Unido

Sitio web:http://dx.doi.org/10.1186/s40246-024-00613-9

Journal of health, population, and nutrition
Selección SIIC: 16 Mayo, 2024
Journal of health, population, and nutrition

Evaluating the impact of school-based influenza vaccination programme on absenteeism and outbreaks at schools in Hong Kong

Evaluating the impact of school-based influenza vaccination programme on absenteeism and outbreaks at schools in Hong Kong

Fuente:Journal of Health, Population, and Nutrition

Tipo de trabajo:Estudio de cohortes

Extracto: TRIAL REGISTRATION: This study will be retrospectively registered.

Claves:Absenteeism, Influenza, School-based programme, Vaccine

Cita:J Health Popul Nutr 2024 May 10; 43 (1) : 62.

Autor/es:Miao, Chuhan (a)
Lu, Qingyang (b)

institución:(a) School of Public Health, Li Ka Shing Faculty of Medicine, The University of Hong Kong, No.5 Sassoon Road, Pokfulam, Hong Kong SAR, China.
(b) School of Public Health, Li Ka Shing Faculty of Medicine, The University of Hong Kong, No.5 Sassoon Road, Pokfulam, Hong Kong SAR, China.

Conflicto:We declare that there is no competing conflict of interest.

Formato:Informe virtual

Idioma:Inglés

País de fuente:Bangladesh

Sitio web:http://dx.doi.org/10.1186/s41043-024-00561-z

International journal of molecular sciences
Selección SIIC: 16 Mayo, 2024
International journal of molecular sciences

Assessment of the Correlation and Diagnostic Accuracy between Cerebrospinal Fluid and Plasma Alzheimer's Disease Biomarkers: A Comparison of the Lumipulse and Simoa Platforms.

Assessment of the Correlation and Diagnostic Accuracy between Cerebrospinal Fluid and Plasma Alzheimer's Disease Biomarkers: A Comparison of the Lumipulse and Simoa Platforms.

Fuente:International Journal of Molecular Sciences

Extracto: At present, the analysed AD plasma biomarkers may be useful for screening to reduce the number of lumbar punctures in the clinical setting.

Claves:Alzheimer’s disease, Lumipulse, Simoa, biomarker, cerebrospinal fluid, cut-off, plasma

Cita:Int J Mol Sci 2024 Apr 23; 25 (9)

Autor/es:Dakterzada, Farida (a)
Cipriani, Raffaela (b)

institución:(a) Cognitive Disorders Unit, Cognition and Behaviour Study Group, Santa Maria University Hospital, IRBLleida, 25198 Lleida, Spain.
(b) Achucarro Basque Center for Neuroscience, 48940 Leioa, Spain.

Conflicto:The authors declare that this research was conducted in the absence of any commercial or financial relationships that could be construed as potential conflicts of interest.

Formato:Informe virtual

Idioma:Inglés

País de fuente:Suiza

Sitio web:http://dx.doi.org/10.3390/ijms25094594

Selección SIIC: 16 Mayo, 2024

HLA-DR Expression in Natural Killer Cells Marks Distinct Functional States, Depending on Cell Differentiation Stage.

HLA-DR Expression in Natural Killer Cells Marks Distinct Functional States, Depending on Cell Differentiation Stage.

Fuente:International Journal of Molecular Sciences

Extracto: The obtained results broaden the knowledge about HLA-DR-positive NK cell appearance, diversity, and functions, which might be useful in terms of understanding the role of this subset in innate immunity and assessing their possible implications in NK cell-based therapy.

Claves:CIITA, ERK1/2, HLA-DR, IFNg, IL-21, NK cells, RNAseq, STAT1, STAT3, metabolism

Cita:Int J Mol Sci 2024 Apr 23; 25 (9)

Autor/es:Kust, Sofya A (a)
Ustiuzhanina, Maria O (b)

institución:(a) Shemyakin & Ovchinnikov Institute of Bioorganic Chemistry, Russian Academy of Sciences, 117997 Moscow, Russia.
(b) Shemyakin & Ovchinnikov Institute of Bioorganic Chemistry, Russian Academy of Sciences, 117997 Moscow, Russia.

Conflicto:Los autores declaran no tener conflictos de interés con la investigación

Formato:Informe virtual

Idioma:Inglés

País de fuente:Suiza

Sitio web:http://dx.doi.org/10.3390/ijms25094609

Selección SIIC: 16 Mayo, 2024

Revealing Genetic Dynamics: scRNA-seq Unravels Modifications in Human PDL Cells across In Vivo and In Vitro Environments.

Revealing Genetic Dynamics: scRNA-seq Unravels Modifications in Human PDL Cells across In Vivo and In Vitro Environments.

Fuente:International Journal of Molecular Sciences

Extracto: These discoveries not only deepen our comprehension of PDL biology but also open avenues for future investigations into uncovering underlying mechanisms.

Claves:culture conditions, genetic markers, periodontal ligament cells, single-cell RNA-seq

Cita:Int J Mol Sci 2024 Apr 26; 25 (9)

Autor/es:Abdallah, Ali T (a)
Peitz, Michael (b)

institución:(a) Cluster of Excellence Cellular Stress Responses in Aging-Associated Diseases (CECAD), 50931 Cologne, Germany.
(b) Institute of Medical Statistics and Computational Biology, Faculty of Medicine, University of Cologne, 50923 Cologne, Germany.

Conflicto:Los autores declaran no tener conflictos de interés con la investigación

Formato:Informe virtual

Idioma:Inglés

País de fuente:Suiza

Sitio web:http://dx.doi.org/10.3390/ijms25094731

Selección SIIC: 16 Mayo, 2024

Mitochondrial DNA and Electron Transport Chain Protein Levels Are Altered in Peripheral Nerve Tissues from Donors with HIV Sensory Neuropathy: A Pilot Study.

Mitochondrial DNA and Electron Transport Chain Protein Levels Are Altered in Peripheral Nerve Tissues from Donors with HIV Sensory Neuropathy: A Pilot Study.

Fuente:International Journal of Molecular Sciences

Extracto: Identifying molecules to safeguard mitochondrial integrity could aid in treating or preventing HIV-associated peripheral neuropathy.

Claves:DSP, common deletion mutation, distal symmetric polyneuropathy, mtDNA

Cita:Int J Mol Sci 2024 Apr 26; 25 (9)

Autor/es:Boustani, Ali (a)
Kulbe, Jacqueline R (b)

institución:(a) Department of Psychiatry, University of California San Diego, San Diego, CA 92093, USA.
(b) Department of Psychiatry, University of California San Diego, San Diego, CA 92093, USA.

Conflicto:Los autores declaran no tener conflictos de interés con la investigación

Formato:Informe virtual

Idioma:Inglés

País de fuente:Suiza

Sitio web:http://dx.doi.org/10.3390/ijms25094732

Selección SIIC: 16 Mayo, 2024

Hydroxytyrosol, a Promising Supplement in the Management of Human Stroke: An Exploratory Study.

Hydroxytyrosol, a Promising Supplement in the Management of Human Stroke: An Exploratory Study.

Fuente:International Journal of Molecular Sciences

Extracto: Although a larger trial is necessary, this study suggests that HT could be a beneficial nutritional complement in the management of human stroke.

Claves:HbA₁c, blood pressure, hydroxytyrosol, ischemic stroke, lipid profile, neurological and functional outcomes, oxidative-stress-related markers, proteomics

Cita:Int J Mol Sci 2024 Apr 27; 25 (9)

Autor/es:Naranjo, Ángela (a)
Álvarez-Soria, M Josefa (b)

institución:(a) Departamento de Biología Experimental, Universidad de Jaén, 23071 Jaén, Spain.
(b) Servicio de Neurología, Hospital Universitario de Jaén, 23009 Jaén, Spain.

Conflicto:Los autores declaran no tener conflictos de interés con la investigación

Formato:Informe virtual

Idioma:Inglés

País de fuente:Suiza

Sitio web:http://dx.doi.org/10.3390/ijms25094799

Selección SIIC: 16 Mayo, 2024

The Role of Structural Variants in the Genetic Architecture of Parkinson's Disease.

The Role of Structural Variants in the Genetic Architecture of Parkinson's Disease.

Fuente:International Journal of Molecular Sciences

Extracto: This review aims to provide a comprehensive overview of our current understanding of the involvement of coding and noncoding SVs in the genetic architecture of PD.

Claves:Parkinson’s disease, genetics, long-read sequencing, structural variants

Cita:Int J Mol Sci 2024 Apr 27; 25 (9)

Autor/es:Miano-Burkhardt, Abigail (a)
Alvarez Jerez, Pilar (b)

institución:(a) Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA.
(b) Center for Alzheimer's and Related Dementias, National Institute on Aging, Bethesda, MD 20892, USA.

Conflicto:Los autores declaran no tener conflictos de interés con la investigación

Formato:Informe virtual

Idioma:Inglés

País de fuente:Suiza

Sitio web:http://dx.doi.org/10.3390/ijms25094801

Selección SIIC: 16 Mayo, 2024

Evaluating the Diagnostic Potential of Combined Salivary and Skin Biomarkers in Parkinson's Disease.

Evaluating the Diagnostic Potential of Combined Salivary and Skin Biomarkers in Parkinson's Disease.

Fuente:International Journal of Molecular Sciences

Extracto: This study's results highlight the potential of utilizing a multimodal biomarker approach to enhance diagnostic accuracy in PD.

Claves:Parkinson’s disease, alpha-synuclein, biomarkers, synucleinopathies

Cita:Int J Mol Sci 2024 Apr 28; 25 (9)

Autor/es:Costanzo, Matteo (a)
Galosi, Eleonora (b)

institución:(a) Department of Human Neuroscience, Sapienza University of Rome, Viale dell'Università 30, 00185 Rome, Italy.
(b) Department of Neuroscience, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161 Rome, Italy.

Conflicto:Los autores declaran no tener conflictos de interés con la investigación

Formato:Informe virtual

Idioma:Inglés

País de fuente:Suiza

Sitio web:http://dx.doi.org/10.3390/ijms25094823

Selección SIIC: 16 Mayo, 2024

Extracellular Vesicles in Environmental Toxicological Studies: Association between Urinary Concentrations of Phthalate Metabolites and Exosomal miRNA Expression Profiles.

Extracellular Vesicles in Environmental Toxicological Studies: Association between Urinary Concentrations of Phthalate Metabolites and Exosomal miRNA Expression Profiles.

Fuente:International Journal of Molecular Sciences

Extracto: In summary, the obtained results demonstrate that exposure to environmental phthalates could be related to altered expression profiles of specific ELV-miRs in adult men, thereby demonstrating the potential of miRs carried by exosomes to act as early effect biomarkers.

Claves:biomarkers, endocrine disruptors, exosome-like vesicles, miRNA, pathway analysis, urine

Cita:Int J Mol Sci 2024 Apr 30; 25 (9)

Autor/es:Cocci, Paolo (a)
Bondi, Danilo (b)

institución:(a) School of Biosciences and Veterinary Medicine, University of Camerino, 62032 Camerino, Italy.
(b) Dipartimento di Neuroscienze, Imaging e Scienze Cliniche, University "G. d'Annunzio" of Chieti, 66100 Chieti, Italy.

Conflicto:Los autores declaran no tener conflictos de interés con la investigación

Formato:Informe virtual

Idioma:Inglés

País de fuente:Suiza

Sitio web:http://dx.doi.org/10.3390/ijms25094876

Selección SIIC: 16 Mayo, 2024

Tobacco Smoke Condensate Induces Morphologic Changes in Human Papillomavirus-Positive Cervical Epithelial Cells Consistent with Epithelial to Mesenchymal Transition (EMT) with Activation of Receptor Tyrosine Kinases and Regulation of TGFB.

Tobacco Smoke Condensate Induces Morphologic Changes in Human Papillomavirus-Positive Cervical Epithelial Cells Consistent with Epithelial to Mesenchymal Transition (EMT) with Activation of Receptor Tyrosine Kinases and Regulation of TGFB.

Fuente:International Journal of Molecular Sciences

Extracto: Understanding the molecular pathways and environmental factors that initiate EMT in ectocervical cells will help delineate molecular targets for intervention and define the role of EMT in the initiation and progression of cervical intraepithelial neoplasia and CC.

Claves:cervical cancer (CC), cigarette smoke condensate (CSC), epithelial to mesenchymal transition (EMT), high-risk human papillomavirus (HR-HPV), receptor tyrosine kinase (RTK), transforming growth factor-beta (TGFB)

Cita:Int J Mol Sci 2024 Apr 30; 25 (9)

Autor/es:Mark, Zaniya A (a)
Yu, Linda (b)

institución:(a) Department of Biochemistry, Cancer Biology, Neuroscience, and Pharmacology, Meharry Medical College, Nashville, TN 37208, USA.
(b) Molecular Pathogenesis Group, Mechanistic Toxicology Branch, National Institute of Environmental Health Sciences, NIH, Research Trriangle Park, Durham, NC 27709, USA.

Conflicto:Los autores declaran no tener conflictos de interés con la investigación

Formato:Informe virtual

Idioma:Inglés

País de fuente:Suiza

Sitio web:http://dx.doi.org/10.3390/ijms25094902

Selección SIIC: 16 Mayo, 2024

D-Bifunctional Protein Deficiency Diagnosis-A Challenge in Low Resource Settings

D-Bifunctional Protein Deficiency Diagnosis-A Challenge in Low Resource Settings

Fuente:International Journal of Molecular Sciences

Tipo de trabajo:Revisión

Extracto: We advocate for using molecular diagnosis in critically ill newborns and infants to improve care, reduce healthcare costs, and allow for familial counseling.

Claves:D-bifunctional protein deficiency, neonatal hypotonia, neonatal seizures, peroxisomal disorders, whole-exome sequencing

Cita:Int J Mol Sci 2024 Apr 30; 25 (9)

Autor/es:Ognean, Maria Livia (a)
Mutică, Ioana Bianca (b)

institución:(a) Faculty of Medicine, Lucian Blaga University, 550025 Sibiu, Romania.
(b) Neonatology Department, Clinical County Emergency Hospital, 550245 Sibiu, Romania.

Conflicto:Los autores declaran no tener conflictos de interés con la investigación

Formato:Informe virtual

Idioma:Inglés

País de fuente:Suiza

Sitio web:http://dx.doi.org/10.3390/ijms25094924

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