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[A case of galactosemia caused by galactokinase deficiency].
Pediatr Med Chir. 1984 Mar-Apr; 6(2):333-5.PM

Abstract

The authors describe an original case of galactokinase deficiency, born from a gypsies' family. He developed cataracts in the first two months of life. No other pathological features were observed. One of the brothers of the propositus was also blind for cataracts. The authors discuss the biochemical differences among the varieties of galactosaemia, and their relationship with the clinical differences.

Authors

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Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

ita

PubMed ID

6531256

Citation

Bolgiani, M P., et al. "[A Case of Galactosemia Caused By Galactokinase Deficiency]." La Pediatria Medica E Chirurgica : Medical and Surgical Pediatrics, vol. 6, no. 2, 1984, pp. 333-5.
Bolgiani MP, Gallenca M, Barocelli PC. [A case of galactosemia caused by galactokinase deficiency]. Pediatr Med Chir. 1984;6(2):333-5.
Bolgiani, M. P., Gallenca, M., & Barocelli, P. C. (1984). [A case of galactosemia caused by galactokinase deficiency]. La Pediatria Medica E Chirurgica : Medical and Surgical Pediatrics, 6(2), 333-5.
Bolgiani MP, Gallenca M, Barocelli PC. [A Case of Galactosemia Caused By Galactokinase Deficiency]. Pediatr Med Chir. 1984 Mar-Apr;6(2):333-5. PubMed PMID: 6531256.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [A case of galactosemia caused by galactokinase deficiency]. AU - Bolgiani,M P, AU - Gallenca,M, AU - Barocelli,P C, PY - 1984/3/1/pubmed PY - 1984/3/1/medline PY - 1984/3/1/entrez SP - 333 EP - 5 JF - La Pediatria medica e chirurgica : Medical and surgical pediatrics JO - Pediatr Med Chir VL - 6 IS - 2 N2 - The authors describe an original case of galactokinase deficiency, born from a gypsies' family. He developed cataracts in the first two months of life. No other pathological features were observed. One of the brothers of the propositus was also blind for cataracts. The authors discuss the biochemical differences among the varieties of galactosaemia, and their relationship with the clinical differences. SN - 0391-5387 UR - https://www.unboundmedicine.com/medline/citation/6531256/[A_case_of_galactosemia_caused_by_galactokinase_deficiency]_ L2 - http://babysfirsttest.org/newborn-screening/conditions/galactokinase-deficiency DB - PRIME DP - Unbound Medicine ER -