Premature ovarian insufficiency: new perspectives on genetic cause and phenotypic spectrum
Premature ovarian insufficiency (POI) is one form of female infertility, defined by loss of
ovarian activity before the age of 40 and characterized by amenorrhea (primary or …
ovarian activity before the age of 40 and characterized by amenorrhea (primary or …
Genetics of primary ovarian insufficiency
Primary ovarian insufficiency (POI) is characterized by a loss of ovarian function before the
age of 40 and account for one major cause of female infertility. POI relevance is continuously …
age of 40 and account for one major cause of female infertility. POI relevance is continuously …
[HTML][HTML] Galactose in human metabolism, glycosylation and congenital metabolic diseases: Time for a closer look
F Conte, N van Buuringen, NC Voermans… - Biochimica et Biophysica …, 2021 - Elsevier
Galactose is an essential carbohydrate for cellular metabolism, as it contributes to energy
production and storage in several human tissues while also being a precursor for …
production and storage in several human tissues while also being a precursor for …
[HTML][HTML] Genes involved in human premature ovarian failure
L Persani, R Rossetti… - Journal of molecular …, 2010 - endocrinology-journals.org
Premature ovarian failure (POF) is an ovarian defect characterized by the premature
depletion of ovarian follicles before the age of 40 years, representing one major cause of …
depletion of ovarian follicles before the age of 40 years, representing one major cause of …
Hereditary galactosemia
D Demirbas, AI Coelho, ME Rubio-Gozalbo, GT Berry - Metabolism, 2018 - Elsevier
Hereditary galactosemia is an inborn error of carbohydrate metabolism. Galactose is
metabolized by Leloir pathway enzymes; galactokinase (GALK), galactose-1-phosphate …
metabolized by Leloir pathway enzymes; galactokinase (GALK), galactose-1-phosphate …
The natural history of classic galactosemia: lessons from the GalNet registry
ME Rubio-Gozalbo, M Haskovic, AM Bosch… - Orphanet journal of rare …, 2019 - Springer
Background Classic galactosemia is a rare inborn error of carbohydrate metabolism, caused
by a severe deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT). A …
by a severe deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT). A …
Sweet and sour: an update on classic galactosemia
AI Coelho, ME Rubio-Gozalbo, JB Vicente… - Journal of inherited …, 2017 - Springer
Classic galactosemia is a rare inherited disorder of galactose metabolism caused by
deficient activity of galactose-1-phosphate uridylyltransferase (GALT), the second enzyme of …
deficient activity of galactose-1-phosphate uridylyltransferase (GALT), the second enzyme of …
Identification of multiple gene mutations accounts for a new genetic architecture of primary ovarian insufficiency
J Bouilly, I Beau, S Barraud, V Bernard… - The Journal of …, 2016 - academic.oup.com
Context: Idiopathic primary ovarian insufficiency (POI) is a major cause of amenorrhea and
infertility. POI affects 1% of women before age 40 years, and several genetic causes have …
infertility. POI affects 1% of women before age 40 years, and several genetic causes have …
Germ cell-specific Atg7 knockout results in primary ovarian insufficiency in female mice
ZH Song, HY Yu, P Wang, GK Mao, WX Liu, MN Li… - Cell death & …, 2015 - nature.com
Primary ovarian insufficiency (POI) is a common cause of infertility in around 1–2% of
women aged< 40 years. However, the mechanisms that cause POI are still poorly …
women aged< 40 years. However, the mechanisms that cause POI are still poorly …
The molecular basis of galactosemia—Past, present and future
DJ Timson - Gene, 2016 - Elsevier
Galactosemia, an inborn error of galactose metabolism, was first described in the 1900s by
von Ruess. The subsequent 100 years has seen considerable progress in understanding …
von Ruess. The subsequent 100 years has seen considerable progress in understanding …