Results 111 to 120 of about 870 (139)

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
openaire   +2 more sources

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 ...
M Estela Rubio-Gozalbo, Jaap A Bakker, Luc J C Van Loon   +2 more
exaly   +4 more sources

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
openaire   +3 more sources

Low prevalence of classical galactosemia in Korean population [PDF]

Journal of Human Genetics, 2010
This study described the clinical and molecular genetic features of classical galactosemia in Korean population to contribute to the insight in the spectrum of galactosemia in the world, as little is known about the spectrum and incidence of galactosemia in Asia.
Han-Wook Yoo, Beom Hee Lee, Gu-Hwan Kim   +2 more
exaly   +3 more sources

Hand fine motor control in classic galactosemia

Journal of Inherited Metabolic Disease, 2021
AbstractClassic galactosemia (CG) is a rare inborn error of metabolism that results from profound deficiency of galactose‐1‐P uridylyltransferase (GALT). Despite early detection and rapid and lifelong dietary restriction of galactose, which is the current standard of care, most patients grow to experience a broad range of complications that can include
Jessica MacWilliams, Sneh Patel, Grace Carlock, Sarah Vest, Nancy L. Potter, Judith L. Fridovich‐Keil   +5 more
openaire   +2 more sources

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 ...
Kailash Bhatia, Maja Kojovic, Miryam Carecchio   +2 more
exaly   +3 more sources

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
openaire   +2 more sources

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
openaire   +1 more source

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
openaire   +2 more sources

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
openaire   +3 more sources