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11 in total

1. Long-term prognosis in galactosaemia: results of a survey of 350 cases.

Authors: D D Waggoner; N R Buist; G N Donnell
Journal: J Inherit Metab Dis Date: 1990 Impact factor: 4.982

2. 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

3. Progressive cerebellar and extrapyramidal motor disturbances in galactosaemic twins.

Authors: H Böhles; D Wenzel; Y S Shin
Journal: Eur J Pediatr Date: 1986-10 Impact factor: 3.183

4. 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

5. Studies of DNA in galactose-1-phosphate uridyltransferase deficiency and the Duarte variant in Germany.

Authors: T Podskarbi; J Reichardt; Y S Shin
Journal: J Inherit Metab Dis Date: 1994 Impact factor: 4.982

6. 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

7. 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

8. Biochemical and molecular studies of 132 patients with galactosemia.

Authors: W G Ng; Y K Xu; F R Kaufman; G N Donnell; J Wolff; R J Allen; S Koritala; J K Reichardt
Journal: Hum Genet Date: 1994-10 Impact factor: 4.132

9. Long-term outcome in 134 patients with galactosaemia.

Authors: S Schweitzer; Y Shin; C Jakobs; J Brodehl
Journal: Eur J Pediatr Date: 1993-01 Impact factor: 3.183

10. Simultaneous occurrence of various mutations and polymorphisms in cis and in trans of the galactose-1-phosphate uridyltransferase gene in a Turkish family with classical galactosemia.

Authors: V Schuster; T Podskarbi; H Ottensmeier; M Haubner; Y S Shin
Journal: J Mol Med (Berl) Date: 1998-09 Impact factor: 4.599

2 in total

1. Diagnostic uses of DNA analysis: powerful but problematic.

Authors:
Journal: J Inherit Metab Dis Date: 1999-08 Impact factor: 4.982

2. Molecular and clinical analysis of patients with classic and Duarte galactosemia in western Hungary.

Authors: Ilona Milánkovics; Agnes Schuler; Eniko Kámory; Béla Csókay; Flóra Fodor; Csilla Somogyi; Krisztina Németh; György Fekete
Journal: Wien Klin Wochenschr Date: 2010-02 Impact factor: 1.704

2 in total