Neonatal form of hypophosphatasia. A case report
Hypophosphatasia is a rare (1/100,000), inherited inborn error of metabolism characterized by low serum and tissue alkaline phosphatase activities resulting in skeletal abnormalities. Four clinical forms are recognized depending on the age of diagnosis. Since treatment is not available and th...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Hacettepe University Institute of Child Health
1995-10-01
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| Series: | The Turkish Journal of Pediatrics |
| Online Access: | https://turkjpediatr.org/article/view/3594 |
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| _version_ | 1850028625053614080 |
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| author | G Tekinalp B Gürakan S Yalçin M Cağlar H Ergin |
| author_facet | G Tekinalp B Gürakan S Yalçin M Cağlar H Ergin |
| author_sort | G Tekinalp |
| collection | DOAJ |
| description |
Hypophosphatasia is a rare (1/100,000), inherited inborn error of metabolism characterized by low serum and tissue alkaline phosphatase activities resulting in skeletal abnormalities. Four clinical forms are recognized depending on the age of diagnosis. Since treatment is not available and the prognosis is always lethal, detection of index cases and prenatal diagnosis is subsequent pregnancies is very important. Here we report a case with the most severe form of hypophosphatasia associated with lung hypoplasia.
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| format | Article |
| id | doaj-art-10cabe4c908941dcb4d95bcd02afadd9 |
| institution | DOAJ |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 1995-10-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-10cabe4c908941dcb4d95bcd02afadd92025-08-20T02:59:46ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64211995-10-01374Neonatal form of hypophosphatasia. A case reportG Tekinalp0B GürakanS YalçinM CağlarH ErginDepartment of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey. Hypophosphatasia is a rare (1/100,000), inherited inborn error of metabolism characterized by low serum and tissue alkaline phosphatase activities resulting in skeletal abnormalities. Four clinical forms are recognized depending on the age of diagnosis. Since treatment is not available and the prognosis is always lethal, detection of index cases and prenatal diagnosis is subsequent pregnancies is very important. Here we report a case with the most severe form of hypophosphatasia associated with lung hypoplasia. https://turkjpediatr.org/article/view/3594 |
| spellingShingle | G Tekinalp B Gürakan S Yalçin M Cağlar H Ergin Neonatal form of hypophosphatasia. A case report The Turkish Journal of Pediatrics |
| title | Neonatal form of hypophosphatasia. A case report |
| title_full | Neonatal form of hypophosphatasia. A case report |
| title_fullStr | Neonatal form of hypophosphatasia. A case report |
| title_full_unstemmed | Neonatal form of hypophosphatasia. A case report |
| title_short | Neonatal form of hypophosphatasia. A case report |
| title_sort | neonatal form of hypophosphatasia a case report |
| url | https://turkjpediatr.org/article/view/3594 |
| work_keys_str_mv | AT gtekinalp neonatalformofhypophosphatasiaacasereport AT bgurakan neonatalformofhypophosphatasiaacasereport AT syalcin neonatalformofhypophosphatasiaacasereport AT mcaglar neonatalformofhypophosphatasiaacasereport AT hergin neonatalformofhypophosphatasiaacasereport |