Hydrops fetalis as a result of inborn errors of metabolism
| Autor: | Janssens, P.M.W., Jong, J.G.N. de, Liebrand-van Sambeek, M.L.F., Wevers, R.A., Groot, A. de, Kooper, A.J.A., Tan-Sindhunata, M.B., Bijlsma, E. |
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| Jazyk: | Dutch; Flemish |
| Rok vydání: | 2004 |
| Předmět: | |
| Zdroj: | Janssens, P M W, De Jong, J G N, Liebrand-Van Sambeek, M L F, Wevers, R A, De Groot, A N J A, Kooper, A J A, Tan-Sindhunata, M B & Bijlsma, E K 2004, ' Hydrops foetalis als mogelijk gevolg van erfelijke stofwisselingsziekten ', Nederlands Tijdschrift voor Klinische Chemie en Laboratoriumgeneeskunde, vol. 29, no. 4, pp. 184-187 . Nederlands Tijdschrift voor Klinische Chemie, 29, 184-187 Nederlands Tijdschrift voor Klinische Chemie, 29, 4, pp. 184-187 |
| ISSN: | 1380-3689 |
| Popis: | Growing awareness of the manifestation of inborn errors of metabolism in pregnancy has revealed that some 20 of these disorders may cause hydrops fetalis. Most of these inborn errors of metabolism are lysosomal storage diseases. Taken together, these explain a few percent of all cases of hydrops fetalis. As an illustration, we describe three cases of HF we encountered, a case of galactosialidosis, of GM1-gangliosidosis, and of muco-polysaccharidosis type VII. Awareness of lysosomal storage diseases causing hydrops fetalis is useful as it gives an opportunity for risk evaluation, genetic counselling to parents and targeted prenatal diagnostics for ensuing pregnancies. |
| Databáze: | OpenAIRE |
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