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6 in total

1. Agarose gel isoelectrofocusing of UDP-galactose pyrophosphorylase and galactose-1-phosphate uridyltransferase. Developmental aspect of UDP-galactose pyrophosphorylase.

Authors: Y S Shin; H P Niedermeier; W Endres; J Schaub; S Weidinger
Journal: Clin Chim Acta Date: 1987-06-30 Impact factor: 3.786

2. Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase.

Authors: J K Reichardt; S L Woo
Journal: Proc Natl Acad Sci U S A Date: 1991-04-01 Impact factor: 11.205

3. The human galactose-1-phosphate uridyltransferase gene.

Authors: N D Leslie; E B Immerman; J E Flach; M Florez; J L Fridovich-Keil; L J Elsas
Journal: Genomics Date: 1992-10 Impact factor: 5.736

4. Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase.

Authors: J K Reichardt; S Packman; S L Woo
Journal: Am J Hum Genet Date: 1991-10 Impact factor: 11.025

Review 5. Genetic basis of galactosemia.

Authors: J K Reichardt
Journal: Hum Mutat Date: 1992 Impact factor: 4.878

6. On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT).

Authors: H C Lin; L T Kirby; W G Ng; J K Reichardt
Journal: Hum Genet Date: 1994-02 Impact factor: 4.132

6 in total

5 in total

1. Molecular and biochemical basis for variants and deficiency forms of galactose-1-phosphate uridyltransferase.

Authors: Y S Shin; J Zschocke; A M Das; T Podskarbi
Journal: J Inherit Metab Dis Date: 1999-05 Impact factor: 4.982

2. Molecular characterization of Duarte-1 and Duarte-2 variants of galactose-1-phosphate uridyltransferase.

Authors: T Podskarbi; T Kohlmetz; B S Gathof; B Kleinlein; W P Bieger; U Gresser; Y S Shin
Journal: J Inherit Metab Dis Date: 1996 Impact factor: 4.982

3. Three missense mutations in the galactose-1-phosphate uridyltransferase gene of three families with mild galactosaemia.

Authors: Y S Shin; B S Gathof; T Podskarbi; M Sommer; R Giugliani; U Gresser
Journal: Eur J Pediatr Date: 1996-05 Impact factor: 3.183

4. Characterization of two stop codon mutations in the galactose-1-phosphate uridyltransferase gene of three male galactosemic patients with severe clinical manifestation.

Authors: B S Gathof; M Sommer; T Podskarbi; J Reichardt; A Braun; U Gresser; Y S Shin
Journal: Hum Genet Date: 1995-12 Impact factor: 4.132

5. Mutations in the galactose-1-phosphate uridyltransferase gene of two families with mild galactosaemia variants.

Authors: M Sommer; B S Gathof; T Podskarbi; R Giugliani; B Kleinlein; Y S Shin
Journal: J Inherit Metab Dis Date: 1995 Impact factor: 4.982

5 in total