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Búsqueda de afecciones genéticas como etiología de déficit intelectual en individuos que asisten a escuelas de educación especial
(SOC MEDICA SANTIAGO, 2008-12)
Mental retardation or intellectual disability affects 2%
of the general population, but in 60% to 70% of cases the real cause of this retardation is not known.
An early etiologic diagnosis of intellectual disability can ...
Position of Experts Regarding Follow-Up of Patients with Neuronal Ceroid Lipofuscinosis-2 Disease in Latin America
(Latin American Society Inborn Errors and Neonatal Screening, 2020)
Biología, patobiología y bioclínica de la homocisteína eh la especie humana
(Sociedad de Cirugía de Bogotá, Hospital de San José y Fundación Universitaria de Ciencias de la Salud, 2010-06-01)
Genetic screening to determine an etiologic diagnosis in children with mental retardation Búsqueda de afecciones genéticas como etiología de déficit intelectual en individuos que asisten a escuelas de educación especial
(2008)
Mental retardation or intellectual disability affects 2% of the general population, but in 60% to 70% of cases the real cause of this retardation is not known. An early etiologic diagnosis of intellectual disability can ...
A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction
(Nature, 2020)
Inborn errors of metabolism can cause epileptic encephalopathies. Biallelic loss-of-function variants in the ITPA gene, encoding inosine triphosphate pyrophosphatase (ITPase), have been reported in epileptic encephalopathies ...
Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world
(Wiley, 2020)
Aim: Neuronal ceroid lipofuscinosis type 2 (CLN2) disease is an autosomal recessive inherited neurodegenerative lysosomal storage disorder
caused by deficient tripeptidyl peptidase 1 (TPP1) enzyme, leading to progressive ...
Consideraciones específicas para el entendimiento del Síndrome de Muerte Súbita del Lactante.-
(Universidad de Caldas, 2007)
Current Practices and Challenges in the Diagnosis and Management of PKU in Latin America: A Multicenter Survey
(MDPI, 2021)
This study aimed to describe the current practices in the diagnosis and dietary management of phenylketonuria (PKU) in Latin America, as well as the main barriers to treatment. We developed a 44-item online survey aimed ...