Zobrazeno 1 - 10
of 373
pro vyhledávání: '"Sarajlija A"'
Publikováno v:
Balkan Journal of Medical Genetics, Vol 26, Iss 2, Pp 59-64 (2024)
Pathogenic variants in TARS2 are associated with combined oxidative phosphorylation deficiency 21 (COXPD21), an autosomal recessive disorder usually presenting as mitochondrial encephalomyopathy. Kidney impairment has been documented in a minority of
Externí odkaz:
https://doaj.org/article/5eba4a35561d4ef78f233f32d6f62573
Publikováno v:
Balkan Journal of Medical Genetics, Vol 26, Iss 1, Pp 63-68 (2023)
Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal-recessive disorder of gamma-aminobutyric acid (GABA) metabolism, resulting in accumulation of GABA and gamma-hydroxybutyric acid (GHB) in physiological fluids. Approximately 4
Externí odkaz:
https://doaj.org/article/8adfeca7ce964841b3be34f81a532578
Autor:
Sarajlija A., Armengol L., Maver A., Kitic I., Prokic D., Cehic M., Djuricic M.S., Peterlin B.
Publikováno v:
Balkan Journal of Medical Genetics, Vol 25, Iss 1, Pp 93-100 (2023)
Deficiency of lysosomal acid lipase (LAL-D) is caused by biallelic pathogenic variants in the LIPA gene. Spectrum of LAL-D ranges from early onset of hepatosplenomegaly and psychomotor regression (Wolman disease) to a more chronic course (cholesteryl
Externí odkaz:
https://doaj.org/article/625562bf626b47c18182937dd6ebe100
Autor:
Ostojić Slavica, Kravljanac Ružica, Kovačević Gordana, Vučetić-Tadić Biljana, Gazikalović Slobodan, Sarajlija Adrijan
Publikováno v:
Srpski Arhiv za Celokupno Lekarstvo, Vol 150, Iss 9-10, Pp 544-550 (2022)
Introduction/Objective. Acute disseminated encephalomyelitis (ADEM) is the most common demyelinating disease of the central nervous system in pediatric patients. We aimed to evaluate the clinical profile of children with ADEM and to discern prognosti
Externí odkaz:
https://doaj.org/article/8437f1f535574c6a941a346427686d7e
Publikováno v:
Scripta Medica, Vol 51, Iss 1, Pp 61-66 (2020)
Kaposiform haemangioendothelioma (KHE) is a rare, locally invasive vascular tumour that is commonly associated with the Kasabach-Merritt phenomenon (KMP). A case of a five-month-old female infant admitted for dyspnoea, stridor, and skin haematoma is
Externí odkaz:
https://doaj.org/article/d11aed1b6b2c42db9799b6f5ea741cf9
Publikováno v:
Vojnosanitetski Pregled, Vol 71, Iss 2, Pp 167-174 (2014)
Background/Aim. Homelessness is a problem with social, medical, economic, political and other implications. Despite a large number of studies, reports about health-related quality of life (HRQoL) of homeless persons remain sparse. There is a summa
Externí odkaz:
https://doaj.org/article/5012415ce8114847a6074f8c4ae80b20
Publikováno v:
Vojnosanitetski Pregled, Vol 70, Iss 9, Pp 842-847 (2013)
Background/Aim. Rett syndrome (RTT) is a severe neurodevelopmental disorder primarily affecting females with an estimated incidence of 1 : 10,000-15,000 female births. Currently, there is no specific treatment that halts or reverses the progression o
Externí odkaz:
https://doaj.org/article/bd2740173a71485cb732bdc716b186b8
Autor:
Savić Nataša, Janković Borisav, Minić Predrag, Vasiljević Zorica, Sovtić Aleksandar, Pejić Katarina, Sarajlija Adrijan, Gazikalović Slobodan
Publikováno v:
Vojnosanitetski Pregled, Vol 68, Iss 3, Pp 220-224 (2011)
Introduction/Aim. Infection with respiratory syncytial virus (RSV) occurs during the first year of life in 50% of children and 20%-40% of them have signs of lower respiratory tract infection (bronchiolitis or pneumonia). There is an increased risk fo
Externí odkaz:
https://doaj.org/article/ce46d5460e3e490bb638de2bc7d2ab72
Autor:
Đorđević Maja, Minić Predrag, Sarajlija Adrijan, Đuričić Slaviša M., Đokić Dragomir, Marković Obren
Publikováno v:
Vojnosanitetski Pregled, Vol 68, Iss 12, Pp 1071-1074 (2011)
Introduction. Pulmonary involvement has been described in all types of Gaucher disease (GD) but it is considered as relatively rare manifestation. There are reports suggesting that homozygosity for L444P mutation in GBA gene is associated with a subs
Externí odkaz:
https://doaj.org/article/6eccc1afd989434a8bb98f2ec47d6102
Autor:
Martić Jelena, Janković Borisav, Minić Predrag, Sovtić Aleksandar, Nikolić Ljubica, Ristić Snežana, Sarajlija Adrijan
Publikováno v:
Vojnosanitetski Pregled, Vol 65, Iss 12, Pp 876-881 (2008)
Background/Aim. Major aims of mechanical ventilation (MV) in pediatrics mean the contribution to complete recovery of acute disorder or to establishing stability of previously long-term changed health condition. MV is used today in 16-46% of patients
Externí odkaz:
https://doaj.org/article/79d6fbf07668436181f6c06ceedb81e3