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View article: Routine data analysis for moderate hemolysis interference correction in neuron specific enolase quantification
Routine data analysis for moderate hemolysis interference correction in neuron specific enolase quantification Open
Introduction: Serum neuron specific enolase (NSE) is used as neuroendocrine tumor and central nervous system damage marker. It is present in variable concentrations in erythrocytes and hemolysis interferes in serum NSE quantification. Our …
View article: The reliability of environmental cues shape learning and selection against deleterious alleles in seed beetles
The reliability of environmental cues shape learning and selection against deleterious alleles in seed beetles Open
Behavioural plasticity can play a key role in evolution by either facilitating or impeding genetic adaptation. The latter occurs when behaviours mitigate selection pressures that otherwise would target associated traits. Therefore, environ…
View article: B-101 Aquaporin 4 and Neuromyelitis Optica Spectrum Disorders
B-101 Aquaporin 4 and Neuromyelitis Optica Spectrum Disorders Open
Background Neuromyelitis óptica (NMO) is a rare demyelinating inflammatory disease of the central nervous system, characterized by acute optic neuritis (ON) and transverse myelitis (TM). Previously, it was considered as a variant of multip…
View article: B-102 Screening Food Allergies in Our Health Primary Care Area
B-102 Screening Food Allergies in Our Health Primary Care Area Open
Background Allergy is the immunological disease with the greatest impact in the world. Food allergy typically manifests with cutaneous, digestive and/or respiratory symptoms, of immediate onset, usually immunoglobulin E-mediated. Doctors f…
View article: Clinical, neuroimaging, and molecular spectrum of <i>TECPR2</i> ‐associated hereditary sensory and autonomic neuropathy with intellectual disability
Clinical, neuroimaging, and molecular spectrum of <i>TECPR2</i> ‐associated hereditary sensory and autonomic neuropathy with intellectual disability Open
Bi-allelic TECPR2 variants have been associated with a complex syndrome with features of both a neurodevelopmental and neurodegenerative disorder. Here, we provide a comprehensive clinical description and variant interpretation framework f…
View article: Clinical, neuroimaging and molecular spectrum of <i>TECPR2</i>-associated hereditary sensory and autonomic neuropathy with intellectual disability
Clinical, neuroimaging and molecular spectrum of <i>TECPR2</i>-associated hereditary sensory and autonomic neuropathy with intellectual disability Open
PURPOSE Bi-allelic TECPR2 variants have been associated with a complex syndrome with features of both a neurodevelopmental and neurodegenerative disorder. Here, we provide a comprehensive clinical description and variant interpretation fra…
View article: Severe Neonatal Cholestasis as an Early Presentation of McCune- Albright Syndrome
Severe Neonatal Cholestasis as an Early Presentation of McCune- Albright Syndrome Open
McCune-Albright syndrome (MAS) is a rare genetic disorder characterized by café-au-lait macules, polyostotic fibrous dysplasia and multiple endocrinopathies. Liver involvement, although described, is a rare complication. We review the case…
View article: Severe Neonatal Cholestasis as an Early Presentation of McCune Albright Syndrome
Severe Neonatal Cholestasis as an Early Presentation of McCune Albright Syndrome Open
What is already known on this topic?Hepatic disease is a rare but described feature of McCune Albright Syndrome. What this study adds?Previous descriptions of cholestasis in McCune Albright Syndrome have detailed a benign phenotype with gr…