Results 111 to 120 of about 5,107 (173)
Qatar's National Expanded Metabolic Newborn Screening Program: Incidence and Outcomes. [PDF]
Int J Neonatal ScreenJamaleddin T +12 more
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Assessment of Long-Term Safety and Efficacy of Purple Sweet Potato Color (PSPC) and Myo-Inositol (MI) Treatment for Motor Related and Behavioral Phenotypes in a Mouse Model of Classic Galactosemia. [PDF]
J Inherit Metab DisBellagamba O +6 more
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Neonatal Conjugated Hyperbilirubinemia: Clinical Profile, Etiology, and Predictors of Adverse Outcomes in a NICU of a Tertiary Care Center. [PDF]
CureusRamya K +6 more
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Epalrestat Alleviates Reactive Oxygen Species and Endoplasmic Reticulum Stress by Maintaining Glycosylation in IMS32 Schwann Cells Under Exposure to Galactosemic Conditions. [PDF]
Int J Mol SciYako H +4 more
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An Extremely Low-Birth-Weight Infant With Bone Fragility Due to Fanconi Syndrome. [PDF]
Kidney MedYoshida R +7 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, 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
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
openaire +2 more sources
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
openaire +2 more sources