Literature DB >> 14246708

A NEW GENETIC ABNORMALITY RESULTING IN GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE DEFICIENCY.

E BEUTLER, M C BALUDA, P STURGEON, R DAY.   

Abstract

Keywords:  CARBOHYDRATE METABOLISM, INBORN ERRORS; ENZYME TESTS; GALACTOSEMIA; GENES; GENETICS, HUMAN; NUCLEOTIDYLTRANSFERASES

Mesh：

Substances：

Year:  1965        PMID： 14246708     DOI： 10.1016/s0140-6736(65)91782-4

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  31 in total

1.  Komrower Lecture. Galactosaemia today: the enigma and the challenge.

Authors:  S Segal
Journal:  J Inherit Metab Dis       Date:  1998-08       Impact factor: 4.982

2.  Genetic studies of the Macushi and Wapishana Indians. I. Rare genetic variants and a "private polymorphism' of esterase A.

Authors:  J V Neel; R J Tanis; E C Migliazza; R S Spielman; F Salzano; W J Oliver; M Morrow; S Bachofer
Journal:  Hum Genet       Date:  1977-04-07       Impact factor: 4.132

3.  The Chicago variant of clinical galactosemia.

Authors:  C M Chacko; R S Wappner; I K Brandt; H L Nadler
Journal:  Hum Genet       Date:  1977-07-26       Impact factor: 4.132

4.  Two more "private" polymorphisms of Amerindian tribes: LDHb GUA-1 and ACP1 B GUA-1 in the Guaymi in Panama.

Authors:  R J Tanis; J V Neel; R Torres de Arauz
Journal:  Am J Hum Genet       Date:  1977-09       Impact factor: 11.025

5.  Molecular basis for Duarte and Los Angeles variant galactosemia.

Authors:  S D Langley; K Lai; P P Dembure; L N Hjelm; L J Elsas
Journal:  Am J Hum Genet       Date:  1997-02       Impact factor: 11.025

6.  Los Angeles variant of galactose-1-phosphate uridyltransferase (EC 2.7.7.12) in a Mexican family.

Authors:  B Ibarra; G Vaca; J Sánchez-Corona; A Hernández; M L Ramirez; J M Cantú
Journal:  Hum Genet       Date:  1979-04-17       Impact factor: 4.132

7.  [Enzymatic methods for the diagnosis of galactosemia and galactose deficiency].

Authors:  H Kruas; E Mönch
Journal:  Klin Wochenschr       Date:  1970-04-01

8.  Experience of routine live-birth screening for galactosaemia in a British hospital, with emphasis on heterozygote detection.

Authors:  G Ellis; A R Wilcock; D M Goldberg
Journal:  Arch Dis Child       Date:  1972-02       Impact factor: 3.791

9.  A common mutation associated with the Duarte galactosemia allele.

Authors:  L J Elsas; P P Dembure; S Langley; E M Paulk; L N Hjelm; J Fridovich-Keil
Journal:  Am J Hum Genet       Date:  1994-06       Impact factor: 11.025

10.  Origins, distribution and expression of the Duarte-2 (D2) allele of galactose-1-phosphate uridylyltransferase.

Authors:  Amanda E Carney; Rebecca D Sanders; Kerry R Garza; Lee Anne McGaha; Lora J H Bean; Bradford W Coffee; James W Thomas; David J Cutler; Natalie L Kurtkaya; Judith L Fridovich-Keil
Journal:  Hum Mol Genet       Date:  2009-02-18       Impact factor: 6.150
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