Mucopolysaccharidosis type VII as a cause of recurrent non-immune hydrops fetalis
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| 024 | 7 | 0 | |a 10.1515/JPM.2003.083 |2 doi |
| 035 | |a (NATIONALLICENCE)gruyter-10.1515/JPM.2003.083 | ||
| 245 | 0 | 0 | |a Mucopolysaccharidosis type VII as a cause of recurrent non-immune hydrops fetalis |h [Elektronische Daten] |c [Y. Cheng, M. S. Verp, T. Knutel, J. U. Hibbard] |
| 520 | 3 | |a Background: Mucopolysaccharidosis type VII (MPS VII) is a rare lysosomal storage disease first described by Sly in 1973. There are fewer than thirty reported cases world wide. This extremely rare disorder can present in-utero as hydrops fetalis and has a high recurrence rate. However, prenatal diagnosis in the absence of a previously affected child, has not been reported to date. Case: This is a case of a non-consanguineous couple, with no history of a previously affected child with MPS VII, presenting with recurrent hydrops fetalis. During the work-up, the affected fetus was diagnosed in-utero with β-glucuronidase deficiency which is pathognomonic for MPS VII. Prenatal diagnosis was then performed in subsequent pregnancies. Conclusion: The importance of an extensive and thorough investigation for the etiology of hydrops fetalis is discussed. | |
| 540 | |a Copyright © 2003 by Walter de Gruyter GmbH & Co. KG | ||
| 690 | 7 | |a Human reproduction, growth & development |2 nationallicence | |
| 690 | 7 | |a Gynaecology & obstetrics |2 nationallicence | |
| 690 | 7 | |a Paediatric medicine |2 nationallicence | |
| 700 | 1 | |a Cheng |D Y. |4 aut | |
| 700 | 1 | |a Verp |D M. S. |4 aut | |
| 700 | 1 | |a Knutel |D T. |4 aut | |
| 700 | 1 | |a Hibbard |D J. U. |4 aut | |
| 773 | 0 | |t Journal of Perinatal Medicine |d Walter de Gruyter |g 31/6(2003-11-20), 535-537 |x 0300-5577 |q 31:6<535 |1 2003 |2 31 |o jpme | |
| 856 | 4 | 0 | |u https://doi.org/10.1515/JPM.2003.083 |q text/html |z Onlinezugriff via DOI |
| 908 | |D 1 |a research article |2 jats | ||
| 950 | |B NATIONALLICENCE |P 856 |E 40 |u https://doi.org/10.1515/JPM.2003.083 |q text/html |z Onlinezugriff via DOI | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Cheng |D Y. |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Verp |D M. S. |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Knutel |D T. |4 aut | ||
| 950 | |B NATIONALLICENCE |P 700 |E 1- |a Hibbard |D J. U. |4 aut | ||
| 950 | |B NATIONALLICENCE |P 773 |E 0- |t Journal of Perinatal Medicine |d Walter de Gruyter |g 31/6(2003-11-20), 535-537 |x 0300-5577 |q 31:6<535 |1 2003 |2 31 |o jpme | ||
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| 949 | |B NATIONALLICENCE |F NATIONALLICENCE |b NL-gruyter | ||