Ovarian function in girls and women with GALT-deficiency galactosemia (Q34714428)

4 August 2017

5 references

14 March 2019

21 March 2019

24 March 2019

22 April 2019

25 April 2019

Ovarian function in girls and women with GALT-deficiency galactosemia (English)

1 reference

4 August 2017

5 references

14 March 2019

21 March 2019

24 March 2019

22 April 2019

25 April 2019

Jessica B. Spencer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20978943

10 August 2024

Estela Rubio-Gozalbo

1 reference

4 August 2017

Judith L. Fridovich-Keil

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20978943

10 August 2024

Cynthia S. Gubbels

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20978943

10 August 2024

Rebecca D. Sanders

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20978943

10 August 2024

Jolande A. Land

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20978943

10 August 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=20978943

10 August 2024

publication date

27 October 2010

1 reference

full work available at URL

4 August 2017

1 April 2011

5 references

14 March 2019

21 March 2019

24 March 2019

22 April 2019

25 April 2019

https://link.springer.com/content/pdf/10.1007%2Fs10545-010-9221-4.pdf

1 reference

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https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20978943/?tool=EBI

10 August 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20978943

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20978943/pdf/?tool=EBI

10 August 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20978943

https://europepmc.org/articles/PMC3063539

10 August 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20978943

https://europepmc.org/articles/PMC3063539?pdf=render

10 August 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20978943

Journal of Inherited Metabolic Disease

10 August 2024

published in

6 references

4 August 2017

14 March 2019

21 March 2019

24 March 2019

22 April 2019

25 April 2019

1 reference

4 August 2017

1 reference

4 August 2017

page(s)

357-366

1 reference

Oocyte cryopreservation: a feasible fertility preservation option for reproductive age cancer survivors.

4 August 2017

cites work

1 reference

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Galactosemia, a single gene disorder with epigenetic consequences

7 July 2018

1 reference

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Postmenopausal hormone therapy and risk of idiopathic venous thromboembolism: results from the E3N cohort study

7 July 2018

1 reference

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Gonadal function in male and female patients with classic galactosemia.

7 July 2018

1 reference

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Delivery rate using cryopreserved oocytes is comparable to conventional in vitro fertilization using fresh oocytes: potential fertility preservation for female cancer patients

7 July 2018

1 reference

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Primary Ovarian Insufficiency: X chromosome defects and autoimmunity

7 July 2018

1 reference

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Mutations in NR5A1 associated with ovarian insufficiency

7 July 2018

1 reference

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ARHI: A new target of galactose toxicity in Classic Galactosemia

7 July 2018

1 reference

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Biochemical monitoring of pregnancy and breast feeding in five patients with classical galactosaemia--and review of the literature.

7 July 2018

1 reference

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Biomarkers of ovarian function in girls and women with classic galactosemia

7 July 2018

1 reference

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Galactosemia and amenorrhea in the adolescent

7 July 2018

1 reference

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High-throughput screening for human galactokinase inhibitors

7 July 2018

1 reference

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Fertility and impact of pregnancies on the mother and child in classic galactosemia

7 July 2018

1 reference

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Oncofertility consortium consensus statement: guidelines for ovarian tissue cryopreservation

7 July 2018

1 reference

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Distinct roles of galactose-1P in galactose-mediated growth arrest of yeast deficient in galactose-1P uridylyltransferase (GALT) and UDP-galactose 4'-epimerase (GALE)

7 July 2018

1 reference

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Prolactin signaling through the short form of its receptor represses forkhead transcription factor FOXO3 and its target gene galt causing a severe ovarian defect

7 July 2018

1 reference

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Primary ovarian insufficiency: a more accurate term for premature ovarian failure.

7 July 2018

1 reference

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Classical galactosaemia revisited.

7 July 2018

1 reference

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Anti-Müllerian hormone (AMH) in female reproduction: is measurement of circulating AMH a useful tool?

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3063539

Mutations and sequence variants in GDF9 and BMP15 in patients with premature ovarian failure

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3063539

A workshop on pubertal hormone replacement options in the United States

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3063539

Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3063539

Gonadotropin receptors: role of post-translational modifications and post-transcriptional regulation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3063539

Pregnancy and delivery after stimulation with rFSH of a galatosemia patient suffering hypergonadotropic hypogonadism: case report

7 July 2018

1 reference

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Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene

7 July 2018

1 reference

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Recent concerns surrounding HRT.

7 July 2018

1 reference

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The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

7 July 2018

1 reference

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Risk factors for premature ovarian failure in females with galactosemia

7 July 2018

1 reference

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Galactose metabolism and ovarian toxicity

7 July 2018

1 reference

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Growth hormone therapy of Turner syndrome: the impact of age of estrogen replacement on final height. Genentech, Inc., Collaborative Study Group

7 July 2018

1 reference

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Premature ovarian failure: a systematic review on therapeutic interventions to restore ovarian function and achieve pregnancy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3063539

Final height in girls with Turner's syndrome treated with once or twice daily growth hormone injections. Dutch Advisory Group on Growth Hormone

7 July 2018

1 reference

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NOEY2 (ARHI), an imprinted putative tumor suppressor gene in ovarian and breast carcinomas

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3063539

Studies of FRAXA and FRAXE in women with premature ovarian failure

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3063539

Fragile X premutation screening in women with premature ovarian failure

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3063539

Assisted reproduction practice in Europe: legal and ethical aspects

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3063539

Is Premature Ovarian Failure an Autoimmune Disease?

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3063539

Recombinat hormones: Structure-function relationship of recombinant follicle stimulating hormone (Puregon®)

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3063539

Follicle-stimulating isohormones: characterization and physiological relevance

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3063539

Effects of galactosemia in utero

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3063539

Galactose-1-phosphate in the pathophysiology of galactosemia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3063539

Effect of Galactose Toxicity on Growth of the Rat Fetus and Brain

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3063539

The neuropathology of galactosemia. A histopathological and biochemical study

7 July 2018

1 reference

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Incidence of premature ovarian failure.

7 July 2018

1 reference

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Galactose inhibition of ovulation in mice

7 July 2018

1 reference

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Autoimmune etiology in premature ovarian failure

7 July 2018

1 reference

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Gonadal function in patients with galactosaemia.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3063539

Feminization in a galactosemic girl in the presence of hypergonadotropic hypogonadism.

7 July 2018

1 reference

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Correlation of ovarian function with galactose-1-phosphate uridyl transferase levels in galactosemia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3063539

Pregnancy after oocyte donation to a woman with ovarian failure and classical galactosemia

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3063539

Characterization of a novel biochemical abnormality in galactosemia: deficiency of glycolipids containing galactose or N-acetylgalactosamine and accumulation of precursors in brain and lymphocytes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3063539

Long‐term prognosis in galactosaemia: Results of a survey of 350 cases

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3063539

Aldose reductase inhibition prevents galactose-induced ovarian dysfunction in the Sprague-Dawley rat.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3063539

A Diphasic Pattern of Gonadotropin Secretion in Patients with the Syndrome of Gonadal Dysgenesis

7 July 2018

1 reference

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Bone Loss in Young Women With Karyotypically Normal Spontaneous Premature Ovarian Failure

7 July 2018

1 reference

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Fragile X premutation in women with sporadic premature ovarian failure in Slovenia.

21 January 2018

1 reference

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Premature ovarian failure

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9221-4

Impaired endothelial function in young women with premature ovarian failure: normalization with hormone therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9221-4

Induction of puberty in the hypogonadal girl--practices and attitudes of pediatric endocrinologists in Europe

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9221-4

Heterozygosity for the classical galactosemia mutation does not affect ovarian reserve and menopausal age.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9221-4

Dietary galactose inhibits GDF-9 mediated follicular development in the rat ovary.

21 January 2018

1 reference

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The endocrine system in treated patients with classical galactosemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9221-4

Long-term outcome in 134 patients with galactosaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9221-4

Intracellular galactose-1-phosphate accumulation leads to environmental stress response in yeast model

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9221-4

Donation of eggs in assisted reproduction and informed consent

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3063539

Inhibitor of apoptosis proteins and ovarian dysfunction in galactosemic rats

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3063539

Prenatal exposure to high galactose adversely affects initial gonadal pool of germ cells in rats

26 October 2018

1 reference

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Reduction in oocyte number following prenatal exposure to a diet high in galactose

26 October 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-010-9221-4

Accumulation of galactose-1-phosphate in the galactosemic fetus despite maternal milk avoidance

21 January 2018

1 reference

12 December 2020

Premature ovarian failure and fragile X premutation: a study on 45 women

1 reference

12 December 2020

Correlation of ovarian reserve tests with histologically determined primordial follicle number

1 reference

12 December 2020

The human ARHI tumor suppressor gene inhibits lactation and growth in transgenic mice

1 reference

12 December 2020

Dietary restriction of maternal lactose intake does not prevent accumulation of galactitol in the amniotic fluid of fetuses affected with galactosaemia

1 reference

12 December 2020

Altered follicle stimulating hormone isoforms in female galactosaemia patients

1 reference

12 December 2020

Galactosemia: how does long-term treatment change the outcome?

1 reference

12 December 2020

Ovarian insufficiency in congenital galactosemia

1 reference

12 December 2020

Defective galactosylation of serum transferrin in galactosemia

1 reference

12 December 2020

Premature ovarian failure

1 reference

12 December 2020

Observations on cataract formation in the newborn offspring of rats fed a high-galactose diet

1 reference

12 December 2020

Defective galactosylation of proteins in cultured skin fibroblasts from galactosaemic patients

1 reference

12 December 2020

Why mice have lost genes for COL21A1, STK17A, GPR145 and AHRI: evidence for gene deletion at evolutionary breakpoints in the rodent lineage

1 reference

12 December 2020

Abnormal galactosylation of complex carbohydrates in cultured fibroblasts from patients with galactose-1-phosphate uridyltransferase deficiency

1 reference

12 December 2020

TRANSPLACENTAL GALACTOSE TOXICITY IN RATS

1 reference

12 December 2020

Gonadal function and glycoprotein hormones in the carbohydrate‐deficient glycoprotein (CDG) syndrome

1 reference

12 December 2020

ACOG Committee Opinion No. 405: ovarian tissue and oocyte cryopreservation

1 reference

12 December 2020

Yearly stepwise increments of the growth hormone dose results in a better growth response after four years in girls with Turner syndrome. Dutch Working Group on Growth Hormone

1 reference

12 December 2020

Pregnancy in classic galactosemia despite undetectable anti-Müllerian hormone

1 reference

12 December 2020

Serum lysosomal enzyme abnormalities in galactosaemia

1 reference

12 December 2020

Ovarian failure in galactosemia

1 reference

12 December 2020

Carbohydrate‐deficient transferrin in galactosaemia

1 reference

12 December 2020

Hypergonadotropic hypogonadism in female patients with galactosemia

1 reference

12 December 2020

Premature ovarian failure

1 reference

12 December 2020

10.1007/S10545-010-9221-4

Identifiers

DOI

1 reference

Dimensions Publication ID

4 August 2017

0 references

1 reference

4 August 2017

1 reference