Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Sanja Grkovic"'
Autor:
Sonja Pavlovic, Lourdes R. Desviat, Jelena Kostic, Maja Stojiljkovic, Sandra Brasil, Belén Pérez, Kristel Klaassen, Pilar Rodríguez-Pombo, Bozica Kecman, Maja Djordjevic, Sanja Grkovic, Adrijan Sarajlija
Publikováno v:
Clinical Genetics. 90:252-257
Specific mitochondrial enzymatic deficiencies in the catabolism of branched-chain amino acids cause methylmalonic aciduria (MMA), propionic acidemia (PA) and maple syrup urine disease (MSUD). Disease-causing mutations were identified in nine unrelate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f02aac6e0de315eb53dcc525e13a8672
https://doi.org/10.1111/cge.12751
https://doi.org/10.1111/cge.12751
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 98:E1972-E1978
Rett syndrome (RTT) is a severe neurodevelopmental disorder. Bone manifestations of RTT include osteopenia and fractures. Studies addressing serum vitamin D levels in patients with RTT are scarce.The goals of this study were (1) to determine the prev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::182fa608d2e6c159d93ce07520283c25
https://doi.org/10.1210/jc.2013-2627
https://doi.org/10.1210/jc.2013-2627
Autor:
Tanja Lalic, Danijela Radivojevic, Aleksandar Sovtic, Predrag Minic, Marija Guc-Scekic, Marijana Miskovic, Sanja Grkovic
Publikováno v:
Pediatrics International. 55:181-184
Background We performed a pilot study of neonatal screening for cystic fibrosis (CF) in order to introduce it to the national screening program in Serbia. Methods Immunoreactive trypsinogen (IRT) concentrations were analyzed in dried blood spot sampl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fa578bc8c81e96f99bcb3641ab69bb7f
https://doi.org/10.1111/ped.12009
https://doi.org/10.1111/ped.12009
Autor:
Ljubomir M Stojanov, Sanja Grkovic, Bozica Kecman, Snezana Zivancevic-Simonovic, Maja Djordjevic, Gordana Djordjevic-Denic, Rajko Nikolic
Publikováno v:
Indian Journal of Clinical Biochemistry. 22:118-122
X-linked adrenoleukodistrophy is a severe neurodegenerative disorder with impaired very long chain fatty acid metabolism. The disease associated ABCD1 gene encodes a peroxisomal membrane protein which belongs to the superfamily of ATP-binding cassett
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa71c29bd0a1f8f95d728f3a29090493
https://doi.org/10.1007/bf02913328
https://doi.org/10.1007/bf02913328
Autor:
Maja Stojiljkovic, Sanja Grkovic, Branka Petrucev, J Jovanovic, T Karan Djurasevic, Sonja Pavlovic, Natasa Tosic, M Cvorkov Drazic, L Stojanov, Maja Djordjevic
Publikováno v:
Clinical Genetics. 70:151-155
Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism in Caucasians. PKU is caused by mutations in the gene encoding phenylalanine hydroxylase (PAH) enzyme. Here, we report the spectrum and the frequency of mutations in the P
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::769dca75cec5d98ff147d761106ecb65
https://doi.org/10.1111/j.1399-0004.2006.00650.x
https://doi.org/10.1111/j.1399-0004.2006.00650.x
Publikováno v:
Indian journal of clinical biochemistry : IJCB. 20(2)
We propose a rapid, simple metodology for routine analysis of human urine to detect vanillylmandelic and homovanillic acid related to neuroblastoma. The assay were specific capillary gas chromatography with flame ionization detection. In this methodo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26a1b08a8e646ef6ecf60f143b94a1cc
https://pubmed.ncbi.nlm.nih.gov/23105556
https://pubmed.ncbi.nlm.nih.gov/23105556
Autor:
Danijela, Radivojevic, Aleksandar, Sovtic, Predrag, Minic, Sanja, Grkovic, Marija, Guc-Scekic, Tanja, Lalic, Marijana, Miskovic
Publikováno v:
Pediatrics international : official journal of the Japan Pediatric Society. 55(2)
We performed a pilot study of neonatal screening for cystic fibrosis (CF) in order to introduce it to the national screening program in Serbia.Immunoreactive trypsinogen (IRT) concentrations were analyzed in dried blood spot samples. Patients were re
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::782e9d70b28b2fb1dc2720d289599ac5
https://pubmed.ncbi.nlm.nih.gov/23163630
https://pubmed.ncbi.nlm.nih.gov/23163630