Hereditary galactosemia

Didem Demirbas; Ana I. Coelho; M. Estela Rubio-Gozalbo; Gerard T. Berry

doi:10.1016/j.metabol.2018.01.025

Hereditary galactosemia

Didem Demirbas, Ana I. Coelho, M. Estela Rubio-Gozalbo, Gerard T. Berry

Research output: Contribution to journal › Article › Academic › peer-review

Original language	English
Pages (from-to)	188-196
Number of pages	9
Journal	Metabolism-Clinical and Experimental
Volume	83
DOIs	https://doi.org/10.1016/j.metabol.2018.01.025
Publication status	Published - 1 Jun 2018

Keywords

Galactose
Lactose
Galactosemia
Genetics
Metabolism
GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE DEFICIENCY
MAGNETIC-RESONANCE-SPECTROSCOPY
URIDINE-DIPHOSPHATE GALACTOSE
PRIMARY OVARIAN INSUFFICIENCY
CLASSIC GALACTOSEMIA
GALT GENE
MOLECULAR-BASIS
METABOLIC-DISORDERS
Q188R MUTATION
HYPERGONADOTROPIC HYPOGONADISM

Access to Document

10.1016/j.metabol.2018.01.025

Cite this

Demirbas, D., Coelho, A. I., Rubio-Gozalbo, M. E., & Berry, G. T. (2018). Hereditary galactosemia. Metabolism-Clinical and Experimental, 83, 188-196. https://doi.org/10.1016/j.metabol.2018.01.025

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title = "Hereditary galactosemia",

keywords = "Galactose, Lactose, Galactosemia, Genetics, Metabolism, GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE DEFICIENCY, MAGNETIC-RESONANCE-SPECTROSCOPY, URIDINE-DIPHOSPHATE GALACTOSE, PRIMARY OVARIAN INSUFFICIENCY, CLASSIC GALACTOSEMIA, GALT GENE, MOLECULAR-BASIS, METABOLIC-DISORDERS, Q188R MUTATION, HYPERGONADOTROPIC HYPOGONADISM",

author = "Didem Demirbas and Coelho, {Ana I.} and Rubio-Gozalbo, {M. Estela} and Berry, {Gerard T.}",

year = "2018",

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doi = "10.1016/j.metabol.2018.01.025",

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T1 - Hereditary galactosemia

AU - Demirbas, Didem

AU - Coelho, Ana I.

AU - Rubio-Gozalbo, M. Estela

AU - Berry, Gerard T.

PY - 2018/6/1

Y1 - 2018/6/1

KW - Galactose

KW - Lactose

KW - Galactosemia

KW - Genetics

KW - Metabolism

KW - GALACTOSE-1-PHOSPHATE URIDYLTRANSFERASE DEFICIENCY

KW - MAGNETIC-RESONANCE-SPECTROSCOPY

KW - URIDINE-DIPHOSPHATE GALACTOSE

KW - PRIMARY OVARIAN INSUFFICIENCY

KW - CLASSIC GALACTOSEMIA

KW - GALT GENE

KW - MOLECULAR-BASIS

KW - METABOLIC-DISORDERS

KW - Q188R MUTATION

KW - HYPERGONADOTROPIC HYPOGONADISM

U2 - 10.1016/j.metabol.2018.01.025

DO - 10.1016/j.metabol.2018.01.025

M3 - Article

VL - 83

SP - 188

EP - 196

JO - Metabolism-Clinical and Experimental

JF - Metabolism-Clinical and Experimental

SN - 0026-0495

ER -