Zobrazeno 1 - 10
of 150
pro vyhledávání: '"Grigorescu-Sido P"'
Autor:
Alkhzouz Camelia, Lazea Cecilia, Miclea Diana, Asavoaie Carmen, Nascu Ioana, Pop Tudor, Grigorescu-Sido Paula
Publikováno v:
Romanian Journal of Laboratory Medicine, Vol 28, Iss 3, Pp 279-286 (2020)
Background: Mucopolysaccharidosis type I (MPS I) is an autosomal recessive lysosomal storage disorder caused by a deficiency of α-L-iduronidase (IDUA), which leads to the accumulation of partially digested glycosaminoglycans (dermatan sulfate and he
Externí odkaz:
https://doaj.org/article/59155cf3791f4b3f85b26acf74ca737e
Autor:
Zimmermann A, Popp RA, Rossmann H, Bucerzan S, Nascu I, Leucuta D, Weber MM, Grigorescu-Sido P
Publikováno v:
Therapeutics and Clinical Risk Management, Vol Volume 14, Pp 2069-2080 (2018)
Anca Zimmermann,1 Radu A Popp,2 Heidi Rossmann,3 Simona Bucerzan,4 Ioana Nascu,4 Daniel Leucuta,5 Matthias M Weber,1 Paula Grigorescu-Sido41Department of Endocrinology and Metabolic Diseases, 1st Clinic and Polyclinic of Internal Medicine, University
Externí odkaz:
https://doaj.org/article/b1ff7950642d4df5a6dd6896940c5536
Autor:
Drugan Cristina, Drugan Tudor, Caillaud Catherine, Grigorescu-Sido Paula, Nistor Tiberiu, Crăciun Alexandra M.
Publikováno v:
Romanian Journal of Laboratory Medicine, Vol 25, Iss 3, Pp 275-285 (2017)
Background: Gaucher disease (GD) is caused by a recessively inherited deficiency of glucocerebrosidase which is encoded by the GBA gene in which nearly 450 mutations have been described. However, only a few genotype- phenotype correlations have been
Externí odkaz:
https://doaj.org/article/5254ed254de4456087f259571cecb4c2
Publikováno v:
Therapeutics and Clinical Risk Management, Vol Volume 13, Pp 613-622 (2017)
Simona Bucerzan,1 Diana Miclea,1,2 Radu Popp,2 Camelia Alkhzouz,1 Cecilia Lazea,1 Ioan Victor Pop,2 Paula Grigorescu-Sido1 1Emergency Hospital for Children, “Iuliu Hatieganu” University of Medicine and Pharmacy, Cluj-Napoca, Romania; 2Department
Externí odkaz:
https://doaj.org/article/3636489c449f4d939818c272ce55eb93
Autor:
Bucerzan Simona, Popp Radu Anghel, Vlad Raluca Maria, Lazea Cecilia, Nicolaescu Radu, Grigorescu-Sido Paula
Publikováno v:
Romanian Journal of Laboratory Medicine, Vol 25, Iss 1, Pp 27-35 (2017)
Aim: To assess the risk for trisomy 21 in children, depending on the polymorphisms C677T and A1298C of the methylenetetrahydrofolate reductase (MTHFR) gene in mothers.
Externí odkaz:
https://doaj.org/article/72d9a5fdf1394a2484b29219d3cd54b1
Publikováno v:
Romanian Journal of Laboratory Medicine, Vol 25, Iss 1, Pp 37-46 (2017)
Introduction. At the moment there is not enough data in Romania about the incidence of the main genetic mutations which can cause hearing loss.
Externí odkaz:
https://doaj.org/article/a0df45bbc4c849daad9022e36acc5bd7
Autor:
Diana Miclea, Camelia Alkhzouz, Simona Bucerzan, Paula Grigorescu-Sido, Radu Anghel Popp, Ionela Maria Pascanu, Victoria Cret, Cristina Ghervan, Ligia Blaga, Gabriela Zaharie
Publikováno v:
Diagnostics, Vol 11, Iss 11, p 2107 (2021)
Differences in sex development (DSD) are often correlated with a genetic etiology. This study aimed to assess the etiology of DSD patients following a protocol of genetic testing. Materials and methods. This study prospectively investigated a total o
Externí odkaz:
https://doaj.org/article/3ba310ab17c9459a953f27c59e2db6be
Autor:
Cecilia Lazea, Simona Bucerzan, Camelia Al-Khzouz, Anca Zimmermann, Ștefan Cristian Vesa, Ioana Nașcu, Victoria Creț, Mirela Crișan, Carmen Asăvoaie, Diana Miclea, Paula Grigorescu-Sido
Publikováno v:
Diagnostics, Vol 11, Iss 6, p 989 (2021)
Gaucher disease (GD), one of the most common lysosomal disorders, is characterised by clinical heterogeneity. Cardiac involvement is rare and refers to pulmonary hypertension (PH), valvular abnormalities and myocardial infiltrative damage. The aim of
Externí odkaz:
https://doaj.org/article/8175fd31e68e4a10bc3c223b11bb5d41
Autor:
Lazăr, C., Popp, R., Trifa, A., Mocanu, C., Mihut, G., Al-Khzouz, C., Tomescu, E., Figan, I., Grigorescu-Sido, P.
Publikováno v:
In International Journal of Pediatric Otorhinolaryngology 2010 74(4):351-355
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