Results 71 to 80 of about 202 (131)
The Beginnings of Neonatal Screening in Spain: The Initiative of the Instituto de Bioquímica Clínica in Barcelona (1969-1980) [PDF]
Trabajo de fin de grado. Grado en Medicina. Curso académico 2024-2025[ES]Introducción: El cribado neonatal se desarrolló durante la segunda mitad del siglo XX con el objetivo de obtener un diagnóstico precoz rentable de trastornos tratables en periodo ...
López Nieto, Beatriz
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O impacto do teste do pezinho do SUS no diagnóstico precoce de doenças raras: uma revisão narrativa da literatura [PDF]
A Triagem Neonatal Brasileira é popularmente conhecida como “teste do pezinho”, este programa tem o objetivo de identificar distúrbios e doenças raras no recém-nascido em tempo oportuno, visando garantir uma intervenção adequada com tratamento e ...
Machado, Danielle Cristiane Correa de Paula +4 more
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Medicina, 1985 <p>La Galactosemia, cuyo número de codificación internacional es 271.2, se define como un error del metabolismo de la galactosa, de carácter congénito y es un ejemplo de eugenesia (1), puesto que por medios externos como una dieta, se puede alterar un fenotipo.
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Análisis de aminoácidos en muestras biológicas impregnadas en papel de filtro por técnicas fluorimétricas. Aplicación a la detección precoz de errores congénitos del metabolismo [PDF]
, 2010 Lozano, J. A. +3 more
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Current Treatment Options in Neurology, 2003
Despite the dramatic response of sick neonates with galactosemia to the withdrawal of galactose from the diet, over the long-term, complications, including learning disorders, verbal apraxia, and ataxia, often develop. It is clear that, although lifelong galactose restriction remains the basis of treatment for this disease, additional treatment methods
M, BIRDSONG, J B, WOOD
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Despite the dramatic response of sick neonates with galactosemia to the withdrawal of galactose from the diet, over the long-term, complications, including learning disorders, verbal apraxia, and ataxia, often develop. It is clear that, although lifelong galactose restriction remains the basis of treatment for this disease, additional treatment methods
M, BIRDSONG, J B, WOOD
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The Indian Journal of Pediatrics, 1963
A case of galactosemia is reported with a follow-up of 21 months. On a galactose free diet, a normal physical and mental development, and reversal of cataracts and hepatic cirrhosis were demonstrated.
O N, BHAKOO, B N, WALIA, P I, PAULOSE
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A case of galactosemia is reported with a follow-up of 21 months. On a galactose free diet, a normal physical and mental development, and reversal of cataracts and hepatic cirrhosis were demonstrated.
O N, BHAKOO, B N, WALIA, P I, PAULOSE
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Metabolism, 2018
Hereditary galactosemia is an inborn error of carbohydrate metabolism. Galactose is metabolized by Leloir pathway enzymes; galactokinase (GALK), galactose-1-phosphate uridylyltransferase (GALT) and UDP-galactose 4-epimerase (GALE). The defects in these enzymes cause galactosemia in an autosomal recessive manner.
Demirbas, Didem +3 more
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Hereditary galactosemia is an inborn error of carbohydrate metabolism. Galactose is metabolized by Leloir pathway enzymes; galactokinase (GALK), galactose-1-phosphate uridylyltransferase (GALT) and UDP-galactose 4-epimerase (GALE). The defects in these enzymes cause galactosemia in an autosomal recessive manner.
Demirbas, Didem +3 more
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European Journal of Pediatrics, 1995
Urinary galactose and galactitol excretion in controls is age-dependent with the highest concentrations at a younger age. Untreated patients with classical galactosemia excreted highly elevated amounts of galactitol (8000-69,000 mmol/mol creatinine; controls 3-81) which did not correlate with galactose excretion.
C, Jakobs, S, Schweitzer, B, Dorland
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Urinary galactose and galactitol excretion in controls is age-dependent with the highest concentrations at a younger age. Untreated patients with classical galactosemia excreted highly elevated amounts of galactitol (8000-69,000 mmol/mol creatinine; controls 3-81) which did not correlate with galactose excretion.
C, Jakobs, S, Schweitzer, B, Dorland
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Archives of Ophthalmology, 1958
Galactosemia is an inborn error of carbohydrate metabolism first described by von Reuss1a half a century ago. Sporadic reports of the disorder are found in the literature since that time, and during the past decade, probably because of earlier recognition and diagnosis, such reports have appeared with increasing frequency.
W A, WILSON, G N, DONNELL
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Galactosemia is an inborn error of carbohydrate metabolism first described by von Reuss1a half a century ago. Sporadic reports of the disorder are found in the literature since that time, and during the past decade, probably because of earlier recognition and diagnosis, such reports have appeared with increasing frequency.
W A, WILSON, G N, DONNELL
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Acta Paediatrica, 1980
Abstract. Pettersson, R., Dahlqvist, A., Hattevig, G. and Kjellman, B. (Department of Paediatrics Central Hospital, Skövde and Department of Nutrition, University of Lund, Sweden). Borderline galactosemia. Acta Paediatr Scand, 69:735, 1980.—A family with combined heterozygosity for “classical” galactosemia (deficiency of uridyl‐transferase) and for ...
R, Pettersson +3 more
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Abstract. Pettersson, R., Dahlqvist, A., Hattevig, G. and Kjellman, B. (Department of Paediatrics Central Hospital, Skövde and Department of Nutrition, University of Lund, Sweden). Borderline galactosemia. Acta Paediatr Scand, 69:735, 1980.—A family with combined heterozygosity for “classical” galactosemia (deficiency of uridyl‐transferase) and for ...
R, Pettersson +3 more
openaire +2 more sources