Clinical features of galactokinase deficiency: a review of the literature.
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Sugar recognition by human galactokinaseGalactose toxicity in animalsMolecular structure of galactokinaseHigh-throughput screening for human galactokinase inhibitors.Sweet and sour: an update on classic galactosemia.Diagnostic exome sequencing in 266 Dutch patients with visual impairment.Etiological analysis of neurodevelopmental disabilities: single-center eight-year clinical experience in south China.Cat-Map: putting cataract on the mapPurple sweet potato colour--a potential therapy for galactosemia?Structure-activity analysis and cell-based optimization of human galactokinase inhibitors.Altered cofactor binding affects stability and activity of human UDP-galactose 4'-epimerase: implications for type III galactosemiaGalactokinase deficiency in a patient with congenital hyperinsulinismARHI: A new target of galactose toxicity in Classic GalactosemiaComparison of dynamics of wildtype and V94M human UDP-galactose 4-epimerase-A computational perspective on severe epimerase-deficiency galactosemia.pH-rate profiles support a general base mechanism for galactokinase (Lactococcus lactis)Acute and long-term outcomes in a Drosophila melanogaster model of classic galactosemia occur independently of galactose-1-phosphate accumulation.The structural and molecular biology of type I galactosemia: Enzymology of galactose 1-phosphate uridylyltransferase.GALK inhibitors for classic galactosemia.Drosophila melanogaster Models of Galactosemia.Galactose-1-phosphate uridyltransferase deficiency: A literature review of the putative mechanisms of short and long-term complications and allelic variants.Galactose alters markers of oxidative stress and acetylcholinesterase activity in the cerebrum of rats: protective role of antioxidants.Features and outcome of galactokinase deficiency in children diagnosed by newborn screening.The prevalence and clinical study of galactosemia disease in a pilot screening program of neonates, southern iran.Mechanistic studies on human N-acetylgalactosamine kinase.Low prevalence of classical galactosemia in Korean population.Defective GALK1 can cause Galactosemia II (GALCT2)Scientific Opinion on lactose thresholds in lactose intolerance and galactosaemiaThe evolution of a Web resource: The Galactosemia Proteins Database 2.0.Cataract and early nystagmus due to galactokinase deficiency.Defective GALK1 does not phosphorylate GalRapid screening of classic galactosemia patients: a proof-of-concept study using high-throughput FTIR analysis of plasma.Galactokinase deficiency induced cataracts in Indian infants: identification of 4 novel mutations in GALK gene.Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG).Increased promiscuity of human galactokinase following alteration of a single amino acid residue distant from the active site.
P2860
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P2860
Clinical features of galactokinase deficiency: a review of the literature.
description
2002 nî lūn-bûn
@nan
2002 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Clinical features of galactokinase deficiency: a review of the literature.
@ast
Clinical features of galactokinase deficiency: a review of the literature.
@en
type
label
Clinical features of galactokinase deficiency: a review of the literature.
@ast
Clinical features of galactokinase deficiency: a review of the literature.
@en
prefLabel
Clinical features of galactokinase deficiency: a review of the literature.
@ast
Clinical features of galactokinase deficiency: a review of the literature.
@en
P2093
P356
P1476
Clinical features of galactokinase deficiency: a review of the literature.
@en
P2093
Wanders RJ
Wijburg FA
van Gennip AH
van Kempen JV
P2888
P304
P356
10.1023/A:1022875629436
P577
2002-12-01T00:00:00Z
P6179
1000613826