Fanconi-Bickel syndrome in three Turkish patients with different homozygous mutations
Three Turkish patients with Fanconi-Bickel syndrome are presented. Prominent clinical findings of patients included hepatomegaly, growth retardation, hypoglycemia, characteristic tubular nephropathy, and rickets. Each patient had a different homozygous mutation of glucose transporter 2 (GLUT2...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Hacettepe University Institute of Child Health
2005-04-01
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| Series: | The Turkish Journal of Pediatrics |
| Online Access: | https://turkjpediatr.org/article/view/2706 |
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| _version_ | 1850042899616497664 |
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| author | Inci Nur Saltik-Temizel Turgay Coşkun Aysel Yüce Nurten Koçak |
| author_facet | Inci Nur Saltik-Temizel Turgay Coşkun Aysel Yüce Nurten Koçak |
| author_sort | Inci Nur Saltik-Temizel |
| collection | DOAJ |
| description |
Three Turkish patients with Fanconi-Bickel syndrome are presented. Prominent clinical findings of patients included hepatomegaly, growth retardation, hypoglycemia, characteristic tubular nephropathy, and rickets. Each patient had a different homozygous mutation of glucose transporter 2 (GLUT2) gene.
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| format | Article |
| id | doaj-art-42cc689bd0614233b3adcacaa32ee065 |
| institution | DOAJ |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2005-04-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-42cc689bd0614233b3adcacaa32ee0652025-08-20T02:55:24ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212005-04-0147210.24953/turkjped.2005.2706Fanconi-Bickel syndrome in three Turkish patients with different homozygous mutationsInci Nur Saltik-Temizel0Turgay CoşkunAysel YüceNurten KoçakSection of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey. Three Turkish patients with Fanconi-Bickel syndrome are presented. Prominent clinical findings of patients included hepatomegaly, growth retardation, hypoglycemia, characteristic tubular nephropathy, and rickets. Each patient had a different homozygous mutation of glucose transporter 2 (GLUT2) gene. https://turkjpediatr.org/article/view/2706 |
| spellingShingle | Inci Nur Saltik-Temizel Turgay Coşkun Aysel Yüce Nurten Koçak Fanconi-Bickel syndrome in three Turkish patients with different homozygous mutations The Turkish Journal of Pediatrics |
| title | Fanconi-Bickel syndrome in three Turkish patients with different homozygous mutations |
| title_full | Fanconi-Bickel syndrome in three Turkish patients with different homozygous mutations |
| title_fullStr | Fanconi-Bickel syndrome in three Turkish patients with different homozygous mutations |
| title_full_unstemmed | Fanconi-Bickel syndrome in three Turkish patients with different homozygous mutations |
| title_short | Fanconi-Bickel syndrome in three Turkish patients with different homozygous mutations |
| title_sort | fanconi bickel syndrome in three turkish patients with different homozygous mutations |
| url | https://turkjpediatr.org/article/view/2706 |
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