Altered Follicle Stimulating Hormone Isoforms in Female Galactosaemia Patients

No abstract is available for this paper.

• Publication year

  1997

• Venue

  European Journal of Pediatrics

• Publication date

  1997-01-24

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1007/s004310050568PMID 9039515
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Long-term outcome in 134 patients with galactosaemia

  2005cited by this paper
• Three missense mutations in the galactose-1-phosphate uridyltransferase gene of three families with mild galactosaemia

  1996cited by this paper
• Expression of galactose-1-phosphate uridyltransferase in the anterior pituitary of rat during the estrous cycle.

  1996cited by this paper
• Guide to techniques in glycobiology

  1994cited by this paper
• Polymorphism of human pituitary FSH: analysis of immunoreactivity and in vitro bioactivity of different molecular species.

  1994cited by this paper
• Galactosemia: the uridine diphosphate galactose deficiency-uridine treatment controversy.

  1993cited by this paper
• Galactosemia: The uridine diphosphate glactose deficiency-uridine treatment controversy

  1993cited by this paper
• Maturation of follicle-stimulating hormone gonadotropes during the rat estrous cycle.

  1992cited by this paper
• Serum lysosomal enzyme abnormalities in galactosaemia.

  1992cited by this paper
• Abnormal Galactosylation of Complex Carbohydrates in Cultured Fibroblasts from Patients with Galactose-1-Phosphate Uridyltransferase Deficiency

  1992cited by this paper
• Molecular basis of the specificity of binding of glycoprotein hormones to their receptors.

  1992cited by this paper
• Characterization of a novel biochemical abnormality in galactosemia: deficiency of glycolipids containing galactose or N-acetylgalactosamine and accumulation of precursors in brain and lymphocytes.

  1991cited by this paper
• Long-term prognosis in galactosaemia: Results of a survey of 350 cases

  1990cited by this paper
• Defective Galactosylation of Proteins in Cultured Skin Fibroblasts from Galactosaemic Patients

  1990cited by this paper
• Galactose‐1‐phosphate uridyl transferase activity associated with age at menopause and reproductive history

  1989cited by this paper
• Galactose-1-phosphate uridyl transferase activity associated with age at menopause and reproductive history.

  1989cited by this paper
• The Metabolic basis of inherited disease

  1989cited by this paper
• Role of carbohydrates in glycoprotein hormone signal transduction

  1989cited by this paper
• Studies on the microheterogeneity of anterior pituitary follicle-stimulating hormone in the female rat. Isoelectric focusing pattern throughout the estrous cycle.

  1988influential reference
• Dynamic change in charge heterogeneity of pituitary FSH throughout the estrous cycle in female rats.

  1988cited by this paper
• Hypergonadotropic hypogonadism in female patients with galactosemia.

  1981influential reference
• Disorders of galactose metabolism.

  1977cited by this paper
• Plasma concentration of LH, FSH, prolactin, progesterone and estradiol-17beta throughout the 4-day estrous cycle of the rat.

  1974cited by this paper
• Physical characterization of hFSH and its desialylation products by isoelectric focusing and electrophoresis in polyacrylamide gel.

  1973cited by this paper
• Disorders of galactose metabolism

  1969cited by this paper

• Whole-body galactose oxidation as a robust functional assay to assess the efficacy of gene-based therapies in a mouse model of Galactosemia

  2024cites this paper
• The hypergonadotropic hypogonadism conundrum of classic galactosemia

  2022cites this paper
• Puberty and fertility in classic galactosemia

  2021cites this paper
• Novel mRNA-Based Therapy Reduces Toxic Galactose Metabolites and Overcomes Galactose Sensitivity in a Mouse Model of Classic Galactosemia.

  2020cites this paper
• Repurposing drugs for the treatment of galactosemia

  2019cites this paper
• Galactose‐1‐phosphate uridyltransferase deficiency: A literature review of the putative mechanisms of short and long‐term complications and allelic variants

  2018cites this paper
• Fertility in adult women with classic galactosemia and primary ovarian insufficiency.

  2017cites this paper
• Chapter 2 Etiologies of Primary Ovarian Insufficiency

  2017cites this paper
• Delayed puberty

  2016cites this paper
• Etiologies of Primary Ovarian Insufficiency

  2016cites this paper
• Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review.

  2016cites this paper
• International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up

  2016cites this paper
• Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) gene.

  2015cites this paper
• IgG N-glycans as potential biomarkers for determining galactose tolerance in Classical Galactosaemia.

  2012cites this paper
• Trastornos hereditarios del metabolismo de la galactosa y la fructosa

  2012cites this paper
• Innovative therapy for Classic Galactosemia - tale of two HTS.

  2012cites this paper
• Primary ovarian insufficiency in classic galactosemia: role of FSH dysfunction and timing of the lesion

  2012cites this paper
• N- and O-linked glycosylation of total plasma glycoproteins in galactosemia.

  2012cites this paper
• Differential glycomics of epithelial membrane glycoproteins from urinary exovesicles reveals shifts toward complex-type N-glycosylation in classical galactosemia.

  2012cites this paper
• Ovotoxic Effects of Galactose Involve Attenuation of Follicle-Stimulating Hormone Bioactivity and Up-Regulation of Granulosa Cell p53 Expression

  2012influential citation
• Galactosaemia an update

  2011cites this paper
• Etiology and treatment of hypogonadism in adolescents.

  2011cites this paper
• The GALT rush: high carrier frequency of an unusual deletion mutation of the GALT gene in the Ashkenazi population.

  2011cites this paper
• Galactosemia, a Single Gene Disorder With Epigenetic Consequences

  2010cites this paper
• Ovarian function in girls and women with GALT-deficiency galactosemia

  2010cites this paper
• Gonadal function in male and female patients with classic galactosemia.

  2010cites this paper
• FSH isoform pattern in classic galactosemia

  2010influential citation
• FSH: One Hormone with Multiple Forms, or a Family of Multiple Hormones

  2009influential citation
• Biomarkers of ovarian function in girls and women with classic galactosemia.

  2009cites this paper
• Diagnostic Quandary: Premature Ovarian Failure and Galactosemia Variants in Adolescent Girls with Delayed Puberty

  2009cites this paper
• CHAPTER 17 – Puberty: Gonadarche and Adrenarche

  2009cites this paper
• Etiology and treatment of hypogonadism in adolescents.

  2009cites this paper
• Galactose toxicity in animals

  2009cites this paper
• Reply of the Authors: Measures of ovarian function in galactosemia

  2009cites this paper
• Serum markers of bone turnover in children and adolescents with classic galactosemia.

  2008cites this paper
• ARHI: A new target of galactose toxicity in Classic Galactosemia.

  2008cites this paper
• Galactosemia and Amenorrhea in the Adolescent

  2008cites this paper
• Involvement of endoplasmic reticulum stress in a novel Classic Galactosemia model.

  2007influential citation
• Heterozygosity for the Classical Galactosemia Mutation Does Not Affect Ovarian Reserve and Menopausal Age

  2007cites this paper
• Premature ovarian failure

  2007cites this paper
• Pathophysiology of impaired ovarian function in galactosaemia.

  2006cites this paper
• Classical galactosaemia revisited

  2006influential citation
• The endocrine system in treated patients with classical galactosemia.

  2006cites this paper
• Fractionation of follicle stimulating hormone charge isoforms in their native form by preparative electrophoresis technology.

  2006cites this paper
• Genetic defects in the human glycome

  2006cites this paper
• Galactosemia: The good, the bad, and the unknown

  2006cites this paper
• Pregnancy and galactosaemia

  2006cites this paper
• Anomalías hereditarias del metabolismo de la galactosa y de la fructosa

  2005cites this paper
• Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia.

  2005cites this paper
• An updated review of the long-term neurological effects of galactosemia.

  2005cites this paper
• Anomalies héréditaires du métabolisme du galactose et du fructose

  2005cites this paper
• transferrin N-glycans in untreated galactosemia

  2005cites this paper
• Cryopréservation par vitrification puis transplantation intra-utérine de tissu ovarien

  2004cites this paper
• Pregnancy and Delivery After Stimulation with rFSH of a Galatosemia Patient Suffering Hypergonadotropic Hypogonadism: Case Report

  2004cites this paper
• Genetik des Premature-ovarian-failure-Syndroms

  2003cites this paper
• GALT deficiency causes UDP-hexose deficit in human galactosemic cells.

  2003influential citation
• L'insuffisance ovarienne prématurée dans la galactosémie congénitale : physiopathologie et prise en charge

  2003cites this paper
• Verbal Dyspraxia and Galactosemia

  2003cites this paper
• [Premature ovarian failure in galactosaemia: pathophysiology and clinical management].

  2003cites this paper
• Inhibitor of apoptosis proteins and ovarian dysfunction in galactosemic rats

  2003cites this paper
• Insights into the pathogenesis of galactosemia.

  2003cites this paper
• Galactose toxicity in the rat as a model for premature ovarian failure: an experimental approach readdressed.

  2003cites this paper
• Prenatal exposure to high galactose adversely affects initial gonadal pool of germ cells in rats.

  2003cites this paper
• PREMATURE OVARIAN FAILURE

  2002cites this paper
• Genetic disorders in premature ovarian failure.

  2002cites this paper
• Inborn errors of metabolism and pregnancy

  2000cites this paper
• Galactose metabolism and ovarian toxicity.

  2000cites this paper
• Risk factors for premature ovarian failure in females with galactosemia.

  2000cites this paper
• Classical galactosemia and mutations at the galactose‐1‐phosphate uridyl transferase (GALT) gene

  1999cites this paper
• Biochemical monitoring of treatment for galactosaemia: Biological variability in metabolite concentrations

  1999cites this paper
• Defective galactosylation of serum transferrin in galactosemia.

  1998cites this paper
• Gonadotrophin heterogeneity and biopotency: implications for assisted reproduction.

  1998cites this paper
• Komrower Lecture: Galactosaemia today: The enigma and the challenge

  1998cites this paper
• The fundamental importance of human galactose metabolism: lessons from genetics and biochemistry.

  1998cites this paper
• Premature ovarian failure: an update.

  1998cites this paper