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Mostrando ítems 101-110 de 280
Autosomal Recessive Cerebellar Ataxias in South America: A Multicenter Study of 1338 Patients
(Wiley, 2022)
Autosomal recessive cerebellar ataxias (ARCAs) comprisecomplex genetic ataxia disorders with variable central andperipheral nervous system involvement and systemic changes.They can overlap with other conditions such as ...
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 ...
Enzyme replacement prevents enamel defects in hypophosphatasia mice
(WILEY-BLACKWELLHOBOKEN, 2012)
Hypophosphatasia (HPP) is the inborn error of metabolism characterized by deficiency of alkaline phosphatase activity, leading to rickets or osteomalacia and to dental defects. HPP occurs from loss-of-function mutations ...
Causas del hidrops fetal: experiencia en un hospital obstétrico del Occidente de MéxicoEtiology of fetal hydrops: experience in an obstetric hospital in western Mexico
(Federación Mexicana de Colegios de Obstetricia y Ginecología, A.C., 2023)
Parenting styles and coping strategies in PKU early detected children
(Latin American Society Inborn Errors and Neonatal Screening; Instituto Genética para Todos, 2021-03)
Phenylketonuria (PKU) requires tight control to prevent neurocognitive impairment but reports show that patients may present mild cognitive defects related to higher impulsivity. We hypothesize that chronic intervention ...
Psychiatric Disorders Secondary to Neurometabolic Disorders
Some diseases secondary to inborn errors of metabolism are associated with psychiatric disorders or minor neurological symptoms. The existence of some cases with exclusively psychiatric symptoms represents a diagnostic and ...
Tandem mass spectrometry in newborn screening
(Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas, 2000)
Tandem mass spectrometry (MS/MS) has been used for sev-eral years to identify and measure carnitine esters in blood and
urine of children suspected of having inborn errors of metab-olism. Indeed, acylcarnitine analysis ...
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 ...
Expresión y evaluación de la proteína YdeM como posible activador de sulfatasas en Pichia pastoris
(Universidad de los AndesIngeniería QuímicaFacultad de IngenieríaDepartamento de Ingeniería Química, 2018)
La mucopolisacaridosis es una enfermedad dentro del grupo de los errores innatos del metabolismo, la cual se caracteriza por afectar la producción de la enzima N-acetilgalactosamina-6-sulfato sulfatasa (GALNS), encargada ...
Acidemia Metilmalónica: presentación de un caso y revisión de la literatura científica
(Universidad Militar Nueva Granada, 2014)