A NEW GENETIC ABNORMALITY RESULTING IN GALACTOSE-1-PH... [Lancet. 1965] - PubMed

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GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE ACTIVITY IN GALACTOSAEMIA. [Nature. 1964]
GALACTOSE-1-PHOSPHATE URIDYL TRANSFERASE ACTIVITY IN GALACTOSAEMIA.
WONGIN NG, BERGREN WR, DONNELL GN. Nature. 1964 Aug 22; 203:845-7.
Review [Galactose-1-phosphate uridyltransferase deficiency]. [Ryoikibetsu Shokogun Shirizu. ...]
Review [Galactose-1-phosphate uridyltransferase deficiency].
Okano Y, Isshiki G. Ryoikibetsu Shokogun Shirizu. 1998; (18 Pt 1):15-21.
Diagnosis of inherited disorders of galactose metabolism. [Curr Protoc Hum Genet. 2008]
Diagnosis of inherited disorders of galactose metabolism.
Cuthbert C, Klapper H, Elsas L. Curr Protoc Hum Genet. 2008 Jan; Chapter 17:Unit 17.5.
Human galactose 1-phosphate uridyltransferase. Purification, antibody production, and comparison of the wild type, Duarte variant, and galactosemic gene products. [J Biol Chem. 1972]
Human galactose 1-phosphate uridyltransferase. Purification, antibody production, and comparison of the wild type, Duarte variant, and galactosemic gene products.
Tedesco TA. J Biol Chem. 1972 Oct 25; 247(20):6631-6.
Review Clinical features of galactokinase deficiency: a review of the literature. [J Inherit Metab Dis. 2002]
Review Clinical features of galactokinase deficiency: a review of the literature.
Bosch AM, Bakker HD, van Gennip AH, van Kempen JV, Wanders RJ, Wijburg FA. J Inherit Metab Dis. 2002 Dec; 25(8):629-34.

Simultaneous amplification, detection, and analysis of common mutations in the galactose-1-phosphate uridyl transferase gene. [J Mol Diagn. 2007]
Simultaneous amplification, detection, and analysis of common mutations in the galactose-1-phosphate uridyl transferase gene.
Jama M, Nelson L, Pont-Kingdon G, Mao R, Lyon E. J Mol Diagn. 2007 Nov; 9(5):618-23. Epub 2007 Sep 20.
Molecular basis for Duarte and Los Angeles variant galactosemia. [Am J Hum Genet. 1997]
Molecular basis for Duarte and Los Angeles variant galactosemia.
Langley SD, Lai K, Dembure PP, Hjelm LN, Elsas LJ. Am J Hum Genet. 1997 Feb; 60(2):366-72.
A common mutation associated with the Duarte galactosemia allele. [Am J Hum Genet. 1994]
A common mutation associated with the Duarte galactosemia allele.
Elsas LJ, Dembure PP, Langley S, Paulk EM, Hjelm LN, Fridovich-Keil J. Am J Hum Genet. 1994 Jun; 54(6):1030-6.

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A NEW GENETIC ABNORMALITY RESULTING IN GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE D...
A NEW GENETIC ABNORMALITY RESULTING IN GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE DEFICIENCY.
Lancet. 1965 Feb 13 ;1(7381):353-4.

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Effects of increasing Dk with rigid contact lens extended wear on rabbit corneal...
Effects of increasing Dk with rigid contact lens extended wear on rabbit corneal epithelium using confocal microscopy.
Cornea. 1992 Jul ;11(4):282-7.

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THE MECONIUM-PLUG SYNDROME AND HIRSCHSPRUNG'S DISEASE.
THE MECONIUM-PLUG SYNDROME AND HIRSCHSPRUNG'S DISEASE.
Can Med Assoc J. 1965 Jan 30 ;92:225-7.

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THE OCULO-CEREBRO-RENAL SYNDROME OF LOWE.
THE OCULO-CEREBRO-RENAL SYNDROME OF LOWE.
Am J Dis Child. 1965 Mar ;109:185-203.

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The genetics of Alzheimer's disease: associations with hematologic malignancy an...
The genetics of Alzheimer's disease: associations with hematologic malignancy and Down's syndrome.
Arch Gen Psychiatry. 1977 Aug ;34(8):976-81.

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