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[Cataract due to galactokinase deficiency in a premature infant].
Arch Fr Pediatr. 1976 Jan; 33(1):77-82.AF

Abstract

Report of a case of galactosemia due to galactokinase deficiency. The author recalls the clinical (opacity of the lens) and biological features (important galactosuria, gallactiloluria, normal aminoaciduria, minimal hyperglycemia following galactose load). Since symptoms of increased intracranial pressure were present in this case, as in another one previously described, the commonly accepted statement that cataract is the only lesion in galactokinase deficiency must be reconsidered.

Authors

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Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

fre

PubMed ID

185981

Citation

Colin, J, et al. "[Cataract Due to Galactokinase Deficiency in a Premature Infant]." Archives Francaises De Pediatrie, vol. 33, no. 1, 1976, pp. 77-82.
Colin J, Voyer M, Thomas D, et al. [Cataract due to galactokinase deficiency in a premature infant]. Arch Fr Pediatr. 1976;33(1):77-82.
Colin, J., Voyer, M., Thomas, D., Schapira, F., & Satge, P. (1976). [Cataract due to galactokinase deficiency in a premature infant]. Archives Francaises De Pediatrie, 33(1), 77-82.
Colin J, et al. [Cataract Due to Galactokinase Deficiency in a Premature Infant]. Arch Fr Pediatr. 1976;33(1):77-82. PubMed PMID: 185981.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Cataract due to galactokinase deficiency in a premature infant]. AU - Colin,J, AU - Voyer,M, AU - Thomas,D, AU - Schapira,F, AU - Satge,P, PY - 1976/1/1/pubmed PY - 1976/1/1/medline PY - 1976/1/1/entrez SP - 77 EP - 82 JF - Archives francaises de pediatrie JO - Arch. Fr. Pediatr. VL - 33 IS - 1 N2 - Report of a case of galactosemia due to galactokinase deficiency. The author recalls the clinical (opacity of the lens) and biological features (important galactosuria, gallactiloluria, normal aminoaciduria, minimal hyperglycemia following galactose load). Since symptoms of increased intracranial pressure were present in this case, as in another one previously described, the commonly accepted statement that cataract is the only lesion in galactokinase deficiency must be reconsidered. SN - 0003-9764 UR - https://www.unboundmedicine.com/medline/citation/185981/[Cataract_due_to_galactokinase_deficiency_in_a_premature_infant]_ L2 - http://babysfirsttest.org/newborn-screening/conditions/galactokinase-deficiency DB - PRIME DP - Unbound Medicine ER -