Pregnancy in a patient with mucopolysaccharidosis type IH homozygous for the W402X mutation
| Autor: | G. M. Moss, James E. Wraith, Christian J. Hendriksz |
|---|---|
| Rok vydání: | 2004 |
| Předmět: |
Adult
Pediatrics medicine.medical_specialty Bone marrow transplantation Mucopolysaccharidosis I Mucopolysaccharidosis Ovary Pregnancy Genetics Humans Medicine Genetics (clinical) Bone Marrow Transplantation business.industry Homozygote Abortion Induced MUCOPOLYSACCHARIDOSIS TYPE IH medicine.disease Surgery medicine.anatomical_structure Mutation Mutation (genetic algorithm) Gestation Female business |
| Zdroj: | Journal of Inherited Metabolic Disease. 27:685-686 |
| ISSN: | 0141-8955 |
| DOI: | 10.1023/b:boli.0000043014.21530.9f |
| Popis: | We present a patient with MPS IH, homozygous for the W402X mutation. The patient was treated by bone marrow transplantation at age 14 months. The patient became pregnant at age 21 years. Because of concerns about her own health, the patient opted for a termination. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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