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2 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. Correlation of cognitive, neurologic, and ovarian outcome with the Q188R mutation of the galactose-1-phosphate uridyltransferase gene.

Authors: F R Kaufman; J K Reichardt; W G Ng; Y K Xu; F R Manis; C McBride-Chang; J A Wolff
Journal: J Pediatr Date: 1994-08 Impact factor: 4.406

2 in total

9 in total

1. A controversial expert witness.

Authors:
Journal: Arch Dis Child Date: 2000-09 Impact factor: 3.791

2. Differential phonological awareness skills in children with classic galactosemia: a descriptive study of four cases.

Authors: Fiona M Lewis; David J Coman; Maryann Syrmis; Sarah Kilcoyne; Bruce E Murdoch
Journal: JIMD Rep Date: 2012-12-29

3. The relationship of genotype to cognitive outcome in galactosaemia.

Authors: J P Shield; E J Wadsworth; A MacDonald; A Stephenson; L Tyfield; J B Holton; N Marlow
Journal: Arch Dis Child Date: 2000-09 Impact factor: 3.791

4. Clinical, molecular, and genetic evaluation of galactosemia in Turkish children.

Authors: Sezen Ugan Atik; Semra Gürsoy; Tuba Koçkar; Hasan Önal; Servet Erdal Adal
Journal: Turk Pediatri Ars Date: 2016-12-01

5. Two adult galactosaemia females with normal ovarian function and identical GALT mutations (Q188R/R333G).

Authors: W G Ng; Y K Xu; L J Wong; F R Kaufman; N R M Buist; G N Donnell
Journal: J Inherit Metab Dis Date: 2003 Impact factor: 4.982

6. Correlates of language impairment in children with galactosaemia.

Authors: N L Potter; J-A C Lazarus; J M Johnson; R D Steiner; L D Shriberg
Journal: J Inherit Metab Dis Date: 2008-07-12 Impact factor: 4.982

7. Galactosemia.

Authors: Pamela H. Arn
Journal: Curr Treat Options Neurol Date: 2003-07 Impact factor: 3.598

8. Deficits of facial emotion recognition and visual information processing in adult patients with classical galactosemia.

Authors: Mirjam Korner; Sonja Kälin; Antoinette Zweifel-Zehnder; Niklaus Fankhauser; Jean-Marc Nuoffer; Matthias Gautschi
Journal: Orphanet J Rare Dis Date: 2019-02-26 Impact factor: 4.123

9. Abnormal N-glycan fucosylation, galactosylation, and sialylation of IgG in adults with classical galactosemia, influence of dietary galactose intake.

Authors: Eileen P Treacy; Sebastian Vencken; Annet M Bosch; Matthias Gautschi; Estela Rubio-Gozalbo; Charlotte Dawson; Darragh Nerney; Hugh Owen Colhoun; Loai Shakerdi; Gregory M Pastores; Roisin O'Flaherty; Radka Saldova
Journal: JIMD Rep Date: 2021-07-22

9 in total