| Galactose-1-phosphate uridyl transferase deficiency is not associated with Müllerian aplasia in Dutch patients. | |
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MedLine Citation:
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PMID: 19646668 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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STUDY OBJECTIVE: To study whether a deficiency in galactose-1-phosphate uridyl transferase (GALT) activity of mothers was an explanation for the occurrence of Müllerian aplasia of their daughters. DESIGN: A case control study. SETTING: The patients were selected from the outpatient clinic of the University Medical Center Nijmegen, and compared with the general population in The Netherlands. PARTICIPANTS: Patients (n=9) diagnosed with the syndrome of Müllerian aplasia and their mothers were included. INTERVENTIONS: A questionnaire for medical and family history was taken, and a venous blood sample and urine were collected. MAIN OUTCOME MEASURES: GALT activity (in blood), galactose and galactilol (in urine) were measured. Measured values were analyzed by Student's paired t-test. RESULTS: All patients and their mothers had normal GALT activities> or =20 micromol/h/g Hb. The mean value did not differ from the mean of the normal Dutch population, which was 31.6 (SD=5.0) mumol/h/g Hb. CONCLUSION: GALT deficiency is not an explanation for Müllerian aplasia, at least in the Dutch population. |
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Authors:
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Roel Nijland; Francis E Hartog; Ron A Wevers; Ronald J A Wanders; Wim N P Willemsen |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Journal of pediatric and adolescent gynecology Volume: 22 ISSN: 1873-4332 ISO Abbreviation: J Pediatr Adolesc Gynecol Publication Date: 2009 Aug |
Date Detail:
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Created Date: 2009-08-03 Completed Date: 2009-10-22 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9610774 Medline TA: J Pediatr Adolesc Gynecol Country: United States |
Other Details:
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Languages: eng Pagination: 229-31 Citation Subset: IM |
Affiliation:
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Department of Obstetrics and Gynaecology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Case-Control Studies Female Galactose / urine Humans Middle Aged Mullerian Ducts / abnormalities* Netherlands Polymorphism, Single Nucleotide* Pregnancy Syndrome UTP-Hexose-1-Phosphate Uridylyltransferase / genetics* Young Adult |
| Chemical | |
Reg. No./Substance:
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26566-61-0/Galactose; EC 2.7.7.10/UTP-Hexose-1-Phosphate Uridylyltransferase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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