Results 161 to 170 of about 1,934 (207)
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
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Common metabolic disorder (inborn errors of metabolism) concerns in primary care practice. [PDF]
Ann Transl Med, 2018 Agana M +4 more
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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
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Diagnosing the oil drop: A case report and review of the literature.
Indian J Ophthalmol, 2019 Chhapan RJ, Yerramneni R, Ramappa M.
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Twelve-year review of galactosemia newborn screening in Taiwan: Evolving methods and insights
Hui‐An Chen +6 more
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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 +2 more
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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 +2 more
openaire +3 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
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.
B. Dorland, S. Schweitzer, C. Jakobs
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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.
B. Dorland, S. Schweitzer, C. Jakobs
openaire +3 more sources
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
openaire +3 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
openaire +3 more sources
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.
Warren A. Wilson, George 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.
Warren A. Wilson, George N. Donnell
openaire +3 more sources