Sweet and sour: an update on classic galactosemia
Author:
Funder
iNOVA4Health
H2020 Marie Skłodowska-Curie Actions
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s10545-017-0029-3.pdf
Reference208 articles.
1. Anonymous (1982) Clouds over galactosaemia. Lancet 2:1379–1380
2. Antshel KM, Epstein IO, Waisbren SE (2004) Cognitive strengths and weaknesses in children and adolescents homozygous for the galactosemia Q188R mutation: a descriptive study. Neuropsychology 18:658–664
3. Ashino J, Okano Y, Suyama I et al (1995) Molecular characterization of galactosemia (Type 1) mutations in Japanese. Hum Mutat 6:36–43
4. Batey LA, Welt CK, Rohr F et al (2013) Skeletal health in adult patients with classic galactosemia. Osteoporos Int 24:501–509
5. Belman AL, Moshe SL, Zimmerman RD (1986) Computed tomographic demonstration of cerebral edema in a child with galactosemia. Pediatrics 78:606–609
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