Rare cases of galactose metabolic disorders: identification of more than two mutations per patient.J Pediatr Endocrinol Metab. 2017 Oct 26; 30(10):1119-1120.JP
Links
MeSH
Pub Type(s)
Letter
Language
eng
PubMed ID
28902631
Citation
Schulpis, Kleopatra H., et al. "Rare Cases of Galactose Metabolic Disorders: Identification of More Than Two Mutations Per Patient." Journal of Pediatric Endocrinology & Metabolism : JPEM, vol. 30, no. 10, 2017, pp. 1119-1120.
Schulpis KH, Thodi G, Chatzidaki M, et al. Rare cases of galactose metabolic disorders: identification of more than two mutations per patient. J Pediatr Endocrinol Metab. 2017;30(10):1119-1120.
Schulpis, K. H., Thodi, G., Chatzidaki, M., Iakovou, K., Molou, E., Dotsikas, Y., & Loukas, Y. L. (2017). Rare cases of galactose metabolic disorders: identification of more than two mutations per patient. Journal of Pediatric Endocrinology & Metabolism : JPEM, 30(10), 1119-1120. https://doi.org/10.1515/jpem-2017-0263
Schulpis KH, et al. Rare Cases of Galactose Metabolic Disorders: Identification of More Than Two Mutations Per Patient. J Pediatr Endocrinol Metab. 2017 Oct 26;30(10):1119-1120. PubMed PMID: 28902631.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR
T1 - Rare cases of galactose metabolic disorders: identification of more than two mutations per patient.
AU - Schulpis,Kleopatra H,
AU - Thodi,Georgia,
AU - Chatzidaki,Maria,
AU - Iakovou,Konstantinos,
AU - Molou,Elina,
AU - Dotsikas,Yannis,
AU - Loukas,Yannis L,
PY - 2017/07/05/received
PY - 2017/07/31/accepted
PY - 2017/9/14/pubmed
PY - 2019/7/4/medline
PY - 2017/9/14/entrez
KW - Duarte
KW - galactokinase (GALK)
KW - galactose-1-phosphate uridylyltransferase (GALT)
KW - galactosemia
KW - mutations
KW - uridine diphosphate galactose-4-epimerase (GALE)
SP - 1119
EP - 1120
JF - Journal of pediatric endocrinology & metabolism : JPEM
JO - J Pediatr Endocrinol Metab
VL - 30
IS - 10
SN - 2191-0251
UR - https://www.unboundmedicine.com/medline/citation/28902631/Rare_cases_of_galactose_metabolic_disorders:_identification_of_more_than_two_mutations_per_patient_
L2 - https://www.degruyter.com/document/doi/10.1515/jpem-2017-0263
DB - PRIME
DP - Unbound Medicine
ER -