Ovarian function in girls and women with GALT-deficiency galactosemia

Judith L. Fridovich-Keil; Cynthia S. Gubbels; Jessica B. Spencer; Rebecca D. Sanders; Jolande A. Land; Estela Rubio-Gozalbo

doi:10.1007/s10545-010-9221-4

Ovarian function in girls and women with GALT-deficiency galactosemia

Judith L. Fridovich-Keil^*, Cynthia S. Gubbels, Jessica B. Spencer, Rebecca D. Sanders, Jolande A. Land, Estela Rubio-Gozalbo

^*Corresponding author for this work

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

Abstract

Primary or premature ovarian insufficiency (POI) is the most common long-term complication experienced by girls and women with classic galactosemia; more than 80% and perhaps more than 90% are affected despite neonatal diagnosis and careful lifelong dietary restriction of galactose. In this review we explore the complexities of timing and detection of galactosemia-associated POI and discuss potential underlying mechanisms. Finally, we offer recommendations for follow-up care with current options for intervention.

Original language	English
Pages (from-to)	357-366
Number of pages	10
Journal	Journal of Inherited Metabolic Disease
Volume	34
Issue number	2
DOIs	https://doi.org/10.1007/s10545-010-9221-4
Publication status	Published - Apr 2011

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title = "Ovarian function in girls and women with GALT-deficiency galactosemia",

abstract = "Primary or premature ovarian insufficiency (POI) is the most common long-term complication experienced by girls and women with classic galactosemia; more than 80\% and perhaps more than 90\% are affected despite neonatal diagnosis and careful lifelong dietary restriction of galactose. In this review we explore the complexities of timing and detection of galactosemia-associated POI and discuss potential underlying mechanisms. Finally, we offer recommendations for follow-up care with current options for intervention.",

author = "Fridovich-Keil, \{Judith L.\} and Gubbels, \{Cynthia S.\} and Spencer, \{Jessica B.\} and Sanders, \{Rebecca D.\} and Land, \{Jolande A.\} and Estela Rubio-Gozalbo",

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AU - Sanders, Rebecca D.

AU - Land, Jolande A.

AU - Rubio-Gozalbo, Estela

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AB - Primary or premature ovarian insufficiency (POI) is the most common long-term complication experienced by girls and women with classic galactosemia; more than 80% and perhaps more than 90% are affected despite neonatal diagnosis and careful lifelong dietary restriction of galactose. In this review we explore the complexities of timing and detection of galactosemia-associated POI and discuss potential underlying mechanisms. Finally, we offer recommendations for follow-up care with current options for intervention.

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Ovarian function in girls and women with GALT-deficiency galactosemia

Abstract

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