Results 121 to 130 of about 1,106 (149)

Galk Inhibitors for Classic Galactosemia

Future Medicinal Chemistry, 2014
Classic galactosemia is an inherited metabolic disease for which, at present, no therapy is available apart from galactose-restricted diet. However, the efficacy of the diet is questionable, since it is not able to prevent the insurgence of chronic complications later in life.
Lai K, Boxer MB, MARABOTTI, ANNA
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Outcomes of Siblings with Classical Galactosemia

The Journal of Pediatrics, 2009
To determine the long-term outcome of dietary intervention in siblings from 14 Irish families with classical galactosemia (McKusick 230400), an autosomal recessive disorder of carbohydrate metabolism and galactose-1-phosphate uridyltransferase (GALT) deficiency.Outcomes in siblings on dietary galactose restriction were studied to evaluate whether birth
Hughes, Joanne, Ryan, Stephanie, Lambert, Deborah, Geoghegan, Olivia, Clark, Anne, Rogers, Yvonne, Hendroff, Una, Monavari, Ahmad, Twomey, Eilish, Treacy, Eileen P.   +9 more
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Growth in treated classical galactosemia patients

European Journal of Pediatrics, 2006
Decreased height and weight in treated children with classical galactosemia have been reported. However, growth has not been extensively studied. Patients might be at risk for an abnormal growth because of either disease-related intrinsic factors or diet-related factors.
Panis, B., Gerver, W.J., Rubio-Gozalbo, M.E.   +2 more
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Growth in Classical Galactosemia

2011
Many genetic metabolic diseases are often associated with growth abnormalities, usually an impaired growth. Most often postnatal growth is affected. Disease intrinsic factors and diet-related deficiencies are probably the main causes of affected growth.
M.E. Rubio-Gozalbo, B. Panis, G.T. Berry
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Movement Disorders in Adult Patients With Classical Galactosemia

Movement Disorders, 2013
ABSTRACTClassical galactosemia is an autosomal recessive inborn error of metabolism leading to toxic accumulation of galactose and derived metabolites. It presents with acute systemic complications in the newborn. Galactose restriction resolves these symptoms, but long‐term complications, such as premature ovarian failure and neurological problems ...
Rubio-Agusti I., Carecchio M., Bhatia K. P., Kojovic M., Parees I., Chandrashekar H. S., Footitt E. J., Burke D., Edwards M. J., Lachmann R. H. L., Murphy E.   +10 more
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Ophthalmic Findings in Classical Galactosemia-A Screened Population

Journal of Pediatric Ophthalmology & Strabismus, 1989
ABSTRACT Classical galactosemia due to a deficiency of galactoses -phosphate-uridyl transferase, is an autosomal recessive disorder of galactose metabolism with an incidence in Ireland of one in 30,000 births. It can result in cataract formation through the accumulation of galactitol within the lens.
J P, Burke, M, O'Keefe, R, Bowell, E R, Naughten   +3 more
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Untreated classical galactosemia patient with mild phenotype

Molecular Genetics and Metabolism, 2006
Despite life-long galactose restriction, long-term complications generally occur in classical galactosemia. We report an adult male with classical galactosemia (Q188R homozygosity, severely reduced erythrocyte galactose-1-phosphate uridyltransferase activity) who has a surprisingly mild phenotype despite genotype and enzyme activity associated with ...
Panis, B., Bakker, J.A., Sels, J.P.J.E., Spaapen, L.J., van Loon, L.J., Rubio-Gozalbo, M.E.   +5 more
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The endocrine system in treated patients with classical galactosemia

Molecular Genetics and Metabolism, 2006
Endocrine abnormalities in classical galactosemia, female hypergonadotropic hypogonadism and low thyroxin in neonates, have been reported. Galactosemia is a secondary glycosylation disorder and hypoglycosylation of glycoproteins has a role in this dysfunction. Hypoglycosylation, improves but does not completely disappear with dietary treatment. Our aim
Rubio-Gozalbo, M.E., Panis, B., Zimmermann, L.J., Spaapen, L.J., Menheere, P.P.   +4 more
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Consensus on the guidelines for the dietary management of classical galactosemia

Clinical Nutrition ESPEN, 2015
Worldwide there is scientific discussion about the dietary management of galactosemia. The dietary management is very different in several countries among Europe, the US and Canada. The main points of discussion are related to the fact that i) despite a strict diet some patients still have poor outcomes; ii) there is lack of scientific knowledge about ...
Kristel Vande Kerckhove, Marianne Diels, Sigrid Vanhaesebrouck, Karin Luyten, Nancy Pyck, An De Meyer, Marleen Van Driessche, Martine Robert, Karen Corthouts, Ariane Caris, Emilie Duchateau, Martine Dassy, Genevieve Bihet   +12 more
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