Results 161 to 170 of about 1,983 (198)
Single-nucleus and spatial transcriptomics of paediatric ovary: Molecular insights into the dysregulated signalling pathways underlying premature ovarian insufficiency in classic galactosemia. [PDF]
Clin Transl MedKavarthapu R +10 more
europepmc +1 more source
A newborn Screening Programme for Inborn errors of metabolism in Galicia: 22 years of evaluation and follow-up. [PDF]
Orphanet J Rare DisCouce ML +9 more
europepmc +1 more source
Natural history of three late-diagnosed classic Galactosemia patients
Dulce Quelhas +11 more
openalex +1 more source
Some of the next articles are maybe not open access.
Related searches:
Related searches:
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
+8 more sources
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
+8 more sources
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
openaire +2 more sources
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
openaire +2 more sources
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
openaire +2 more sources
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
openaire +2 more sources
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
openaire +2 more sources
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
European Journal of Pediatrics, 1995
Classic galactosemia is an enigmatic disorder that presents the challenge of unraveling the basis of the long-term complications of mental disability, speech defects, ovarian failure and neurologic syndromes which occur despite a galactose-restricted diet.
openaire +2 more sources
Classic galactosemia is an enigmatic disorder that presents the challenge of unraveling the basis of the long-term complications of mental disability, speech defects, ovarian failure and neurologic syndromes which occur despite a galactose-restricted diet.
openaire +2 more sources
Pediatrics, 1951
Four cases of galactosemia are presented; three occurred in one family. Autopsy findings on one case revealed portal cirrhosis and fatty infiltration of the liver. The etiology of hepatomegaly and the genetic aspects of the disease are discussed.
GEORGE N. DONNELL, STANLEY H. LANN
openaire +1 more source
Four cases of galactosemia are presented; three occurred in one family. Autopsy findings on one case revealed portal cirrhosis and fatty infiltration of the liver. The etiology of hepatomegaly and the genetic aspects of the disease are discussed.
GEORGE N. DONNELL, STANLEY H. LANN
openaire +1 more source