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Health Dictionary

Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.

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Galactosemia physical examination

Introduction

Overview

Overview

Galactosemia gives rise to varied signs on clinical examination.

Physical Examination

Physical Examination

References

References

  1. ↑ 1.0 1.1 Bozkowa K, Zbieg-Sendecka E, Grodzka Z, Cabalska B (1979). “[Clinical and biochemical diagnosis of galactosemia among our cases]”. Probl Med Wieku Rozwoj. 8: 63–9. PMID 263527.
  2. ↑ Laumonier E, Labalette P, Morisot C, Mouriaux F, Dobbelaere D, Rouland JF (2005). “[Vitreous hemorrhage in a neonate with galactosemia. A case report]”. J Fr Ophtalmol. 28 (5): 490–6. doi:10.1016/s0181-5512(05)81085-x. PMID 15976715.
  3. ↑ Atik SU, Gürsoy S, Koçkar T, Önal H, Adal SE (2016). “Clinical, molecular, and genetic evaluation of galactosemia in Turkish children”. Turk Pediatri Ars. 51 (4): 204–209. doi:10.5152/TurkPediatriArs.2016.3759. PMC 5242248. PMID 28123333.
  4. ↑ Coelho AI, Rubio-Gozalbo ME, Vicente JB, Rivera I (2017). “Sweet and sour: an update on classic galactosemia”. J Inherit Metab Dis. 40 (3): 325–342. doi:10.1007/s10545-017-0029-3. PMC 5391384. PMID 28281081.
  5. ↑ Huttenlocher PR, Hillman RE, Hsia YE (1970). “Pseudotumor cerebri in galactosemia”. J Pediatr. 76 (6): 902–5. doi:10.1016/s0022-3476(70)80373-0. PMID 5444582.
  6. ↑ Shah PA, Kuchhai FA (2009). “Galactosemia with chorea–an unusual presentation”. Indian J Pediatr. 76 (1): 97–8. doi:10.1007/s12098-009-0037-x. PMID 19391011.
  7. ↑ Gorial FI, Mohammed MJ (2019). “Unusual Presentation of Galactosemia in a Child: Musculoskeletal Manifestations”. Mediterr J Rheumatol. 30 (2): 123–124. doi:10.31138/mjr.30.2.123. PMC 7045964 Check |pmc= value (help). PMID 32185352 Check |pmid= value (help).

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sujaya Chattopadhyay, M.D.[2]