|1|Galactokinase deficiency induced cataracts in Indian infants: identification of 4 novel mutations in GALK gene. (22632133)
Singh R.... Prasad R.
|2|Galactokinase deficiency in a patient with congenital hyperinsulinism. (23430910)
Bayarchimeg M.... Hussain K.
|3|Features and outcome of galactokinase deficiency in children diagnosed by newborn screening. (21290184)
Hennermann J.B.... Klein J.
|4|Early cataract formation due to galactokinase deficiency: impact of newborn screening. (22154682)
Janzen N.... Das A.M.
|5|Molecular and biochemical characterization of the GALK1 gene in Korean patients with galactokinase deficiency. (17517531)
Park H.D.... Song J.
|6|Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency. (15024738)
Sangiuolo F.... Novelli G.
|7|The P28T mutation in the GALK1 gene accounts for galactokinase deficiency in Roma (Gypsy) patients across Europe. (11978884)
Hunter M.... Kalaydjieva L.V.
|8|Galactokinase deficiency: a case report. (11859915)
Kurt I.... Kutluay T.
|9|Clinical features of galactokinase deficiency: a review of the literature. (12705493)
Bosch A.M.... Wijburg F.A.
|10|Novel mutations in the GALK1 gene in patients with galactokinase deficiency. (11139256)
Hunter M.... Kalaydjieva L.
|11|Novel mutations in 13 probands with galactokinase deficiency. (10790206)
Kolosha V.... Stambolian D.
|12|A founder mutation in the GK1 gene is responsible for galactokinase deficiency in Roma (Gypsies). (10521295)
Kalaydjieva L.... Gitzelmann R.
|13|Molecular characterization of galactokinase deficiency in Japanese patients. (10570908)
Asada M.... Isshiki G.
|14|Galactokinase deficiency]. (9589978)
Okano Y.... Isshiki G.
|15|Normal expression of thymidine kinase and O6-methylguanine-DNA methyltransferase in cultured fibroblasts from individuals with hereditary galactokinase deficiency. (1859354)
Stephenson C.... Karran P.
|16|Uridine nucleotide sugars in erythrocytes of patients with galactokinase deficiency. (2516175)
Xu Y.K.... Donnell G.N.
|17|Cytosolic thymidine kinase activity in cultured human fibroblasts from individuals with galactokinase deficiency. (2775171)
Baptista J.... Lemonnier A.
|18|Early morning urine galactitol levels in relation to galactose intake: a possible method of monitoring the diet in galactokinase deficiency. (3141712)
Allen J.T.... Hodges I.C.
|19|Thymidine kinase activity in individuals with galactokinase deficiency. (3631083)
Okajima K.... Wada Y.
|20|Cataracts in patients heterozygous for galactokinase deficiency. (3949470)
Stambolian D.... Harris H.
|21|Macular deposits in galactokinase deficiency. (3870945)
Hodes B.L.... Stambolian D.
|22|Thymidine-kinase activity of cultured cells from individuals with inherited galactokinase deficiency. (6475956)
Schoen R.C.... Wagner R.P.
|23|Problems in the diagnosis of transferase and galactokinase deficient galactosemia. (7362195)
Pesce M.A.... Bodourian S.H.
|24|Galactokinase deficiency and mental retardation. (490246)
Segal S.... Frimpter G.W.
|25|Phenotypic expression of galactokinase deficiency in heterozygous and homozygous subjects: in vivo and in vitro studies. (182297)
Benson P.F.... Grant A.R.
|26|Detection of inborn errors of metabolism. IV. Galactokinase deficiency. (170030)
|27|Letter: Additional findings in galactokinase deficiency. (171359)
|28|Galactokinase deficiency presenting as pseudotumor cerebri. (163306)
Litman N.... Finberg L.
|29|Galactokinase deficiency in twins: clinical and biochemical studies. (4360930)
Olambiwonnu N.O.... Donnell G.N.
|30|Some inferences from galactokinase deficiency. (4360929)
|31|Galactose metabolism in a patient with hereditary galactokinase deficiency. (4365005)
Gitzelmann R.... Segal S.
|32|A fluorescent spot test for the detection of galactokinase deficiency. (4364011)
Kelly S.... Leikhim E.
|33|Galactokinase deficiency as a cause of cataracts. (4700553)
Beutler E.... Degnan M.
|34|Rapid method for screening for galactosemia and galactokinase deficiency by measuring galactose in whole blood spotted on paper. (4350016)
Grenier A.... Laberge C.
|35|Galactokinase deficiency and cataract formation. (5074466)
Harley J.D.... Rowe P.B.
|36|Galactokinase deficiency and cataracts. (5036447)
Levy N.S.... Beutler E.
|37|Cataracts and galactokinase deficiency. (5033541)
|38|Galactokinase deficiency: clinical and biochemical findings in a new kindred. (5034870)
Pickering W.R.... Howell R.R.
|39|Substrate induction of galactokinase in cultured fibroblasts from subjects heterozygous and homozygous for galactokinase deficiency. (5018641)
Zacchello F.... MANN T.P.
|40|Galactokinase-deficiency cataracts in identical twins. (4644736)
Oberman A.E.... Bergren W.R.
|41|Cataracts, galactosuria and hypergalactosemia due to galactokinase deficiency in a child. Studies of a kindred. (5553957)
Monteleone J.A.... Casey E.C.
|42|Galactokinase deficiency in a newborn infant. (5129188)
KERR M.M.... HUTCHISON J.H.
|43|Hereditary galactokinase deficiency. (5109408)
Cook J.G.... MANN T.P.
|44|A patient with hereditary galactokinase deficiency. (5482251)
Dahlqvist A.... Madsen H.
|45|Hypergalactosemia and galactosuria due to galactokinase deficiency in a newborn. (5695665)
Thalhammer O.... Pantlitschko M.
|46|Detection of heterozygotes for galactokinase deficiency in a human population. (5715186)
Mayes J.S.... Guthrie R.