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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

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Publisher Full Text

Authors+Show Affiliations

Schulpis KH
.
Thodi G
.
Chatzidaki M
.
Iakovou K
.
Molou E
.
Dotsikas Y
.
Loukas YL
.

MeSH

GalactokinaseGalactoseGalactosemiasHumansInfant, NewbornMutationNeonatal ScreeningUDPglucose 4-EpimeraseUTP-Hexose-1-Phosphate Uridylyltransferase

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 -