A clinical case with PMM2-CDG and Dandy-Walker malformation
| dc.contributor.author | Stancheva, M. | |
| dc.contributor.author | Kremenski, I. | |
| dc.contributor.author | Apostolova, M. | |
| dc.contributor.author | Jaeken, J. | |
| dc.contributor.author | van Schaftingen, E. | |
| dc.contributor.author | Matthijs, G. | |
| dc.contributor.author | Ivanova, N. | |
| dc.contributor.author | Bojinova, V. | |
| dc.contributor.author | Radeva, B. | |
| dc.contributor.author | Perenovska, P. | |
| dc.contributor.author | Vladimirova, K. | |
| dc.contributor.author | Vajarova, R. | |
| dc.contributor.author | Todorova, D. | |
| dc.date.accessioned | 2013-09-26T11:45:46Z | |
| dc.date.available | 2013-09-26T11:45:46Z | |
| dc.date.issued | 2010-10 | |
| dc.description | Address for correspondence: Dr. Malina Stancheva, Department of Pediatrics,; Medical University of Sofia, 1, Sv. G. Sofiiski, 1431, Sofia, Bulgaria tel.: +3592 9230 640 **** e-mail: malinastancheva@yahoo.com | en_US |
| dc.description.abstract | The authors report a 6-year-old boy with PMM2-CDG who presented with mild mental retardation, microcephaly, facial dysmorphysm, concomitant convergent strabismus, pseudobulbar, cerebellar and epileptic syndrome, inverted nipples, inguinal hernia, cryptorchidism, pectus carinatum. The MRI in the early childhood period showed Dandy-Walker malformation. The diagnosis was revealed with IEF of serum transferrin and confi rmed with capillary zone electrophoresis. In cultured skin fi broblasts, the patient exhibited deficient phosphomannomutase (0.9 mU/mg protein). The sequence analysis showed compound heterozygosity for the common R141H/V231M mutations. | en_US |
| dc.description.sponsorship | Acknowledgements This work was supported by EU project EUROGLYCANET (European Network for the advancement of research, diagnosis and treatment of a growing group of rare disorders) 512131/01.01-2005-31.12.2007 and Research project R14- D/27.07.09-27.07.2010, Medical University – Sofi a entitled “ Screening for congenital disorders of glycosylation”. | en_US |
| dc.identifier.citation | M. Stancheva, I. Kremenski, M. Apostolova , J. Jaeken, E. van Schaftingen, G. Matthijs, N. Ivanova, V. Bojinova, B. Radeva, P. Perenovska, K. Vladimirova, R. Vajarova and D. Todorova. A clinical case with PMM2-CDG and Dandy-Walker malformation - Acta Medica Bulgarica, 37, 2010, № 2, 80-84. | en_US |
| dc.identifier.issn | 0324-1750 | |
| dc.identifier.uri | http://hdl.handle.net/10861/342 | |
| dc.language.iso | en | en_US |
| dc.publisher | Централна медицинска библиотека, МУ София / Central Medical Library - MU Sofia | en_US |
| dc.subject | PMM2-CDG, Dandy-Walker malformation | en_US |
| dc.title | A clinical case with PMM2-CDG and Dandy-Walker malformation | en_US |
| dc.type | Article | en_US |