Phenotype First Approach and Genotype First Approach The "phenotype first approach" and the "genotype first approach" are two different approaches used in genetics and biology to study the relationship between genes (genotype) and the observable characteristics (phenotype) of an organism. Phenotype First Approach The “phenotype first approach” focuses on the…
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Since the completion of the human genome project, we have experienced a scientific revolution in the field of applied genetics, which is changing the scientific knowledge of those disciplines that are closely related at an unprecedented speed. Pediatric neurology is one of the most affected by this genomic revolution, due to the overrepresentation...
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Coenzyme Q10: Deficiency and Treatment in Pediatric Neurology Introduction Coenzyme Q10 (CoQ10), also known as Decorenone, is an essential compound for cellular function, particularly in tissues with high energy demands such as the brain and muscles. CoQ10 deficiency may manifest as cerebellar ataxia, encephalomyopathy, myopathy, among other neurological syndromes. …
Protocolos de la Sociedad Española de Neurología Pediátrica (SENEP): Pilares del manejo neurológico infantil Los protocolos de la Sociedad Española de Neurología Pediátrica (SENEP) constituyen una guía estandarizada y basada en evidencia para el diagnóstico, manejo y seguimiento de patologías neurológicas en la infancia, integrando aspectos anatómofisiológicos, clínicos y evolutivos esenciales para la práctica pediátrica. …
Protocols of the Spanish Society of Neonatology (SENEO) 2023 The protocols of the Spanish Society of Neonatology (SENEO) in its 2023 update include national recommendations based on evidence on the comprehensive clinical care of the full-term and preterm newborn. These protocols address several important areas, including: Neonatal resuscitation: Provides updated guidelines for…
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Structuring of spaces. Exploration material. Essential bibliography for consultation.
