|1.||Shin, Yoon S: 3 articles (10/2011 - 05/2002)|
|2.||Mönch, Eberhard: 2 articles (04/2011 - 05/2002)|
|3.||Vetter, Barbara: 2 articles (04/2011 - 05/2002)|
|4.||Porta, Francesco: 1 article (05/2015)|
|5.||Spada, Marco: 1 article (05/2015)|
|6.||Pagliardini, Veronica: 1 article (05/2015)|
|7.||Pagliardini, Severo: 1 article (05/2015)|
|8.||Ponzone, Alberto: 1 article (05/2015)|
|9.||Ram, Jagat: 1 article (10/2012)|
|10.||Prasad, Rajendra: 1 article (10/2012)|
10/01/2012 - "Galactokinase deficiency induced cataracts in Indian infants: identification of 4 novel mutations in GALK gene."
01/01/2012 - "Galactokinase deficiency is an extremely rare form of galactosaemia, and the most frequent complication reported is cataracts. "
10/01/2011 - "Newborn screening for GALK deficiency prevents or at least mitigates cataract formation. "
10/01/2011 - "Early cataract formation due to galactokinase deficiency: impact of newborn screening."
02/01/2003 - "To alert about galactokinase deficiency (GK) as a possible cause of infantile cataracts, and even presenile cataracts in heterozygous carriers. "
05/01/2002 - "Neonatal screening for hypergalactosemia in Berlin has been performed by thin-layer chromatography since 1978, which detects classical galactosemia and GALK deficiency. "
01/01/1999 - "Two cases of galactosemia: 1 classical galactosemia and 1 galactokinase deficiency have so far been confirmed. "
03/01/1984 - "[A case of galactosemia caused by galactokinase deficiency]."
11/01/1980 - "The mother of the proband was not only heterozygote for "classical" galactosemia and galactokinase deficiency but also for the Durarte variant. "
01/01/1976 - "Report of a case of galactosemia due to galactokinase deficiency. "
07/01/1979 - " Breast feeding is contraindicated 1) for infants with phenylketonuria, rare amino acidurias, and galactosemia; 2) for infants whose mothers have diseases such as infectious tuberculosis and venereal disease; and 3) for infants whose mothers are taking medications which might be harmful to the infant. "
11/15/1987 - "Between 1965 and 1985, 83 cases of metabolic disorders were detected, including 23 cases of primary hypothyroidism, 14 of classic phenylketonuria, 5 of galactosemia variants, 3 of galactosemia, 2 of maple syrup urine disease and 1 of hereditary tyrosinemia. "
|4.||Persistent Hyperinsulinemia Hypoglycemia of Infancy (Congenital Hyperinsulinism)
03/01/1997 - "Concerning carriers of food-dependent abnormalities, early vascular disease in homocystinuria, hyperammonaemic episodes in ornithine transcarbamylase deficiency, presenile cataracts in galactosaemia as well as galactokinase deficiency, spastic paraparesis in X-linked adrenoleukodystrophy, and HELLP syndrome in mothers of babies with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency have to be mentioned. "
|6.||Facilitative Glucose Transport Proteins (Glucose Transporter)
|7.||Mutant Proteins (Protein, Mutant)