Zobrazeno 1 - 10
of 167
pro vyhledávání: '"I, Ozalp"'
Publikováno v:
Journal of Clinical Investigation. 85:1821-1824
Three patients with chronic lacticacidemia and deficiency of the pyruvate dehydrogenase complex demonstrated in cultured skin fibroblasts showed abnormalities on Western blotting with anti-pyruvate dehydrogenase complex antiserum which were not locat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf886447b7825093a9f4cfaddf73f079
https://doi.org/10.1172/jci114641
https://doi.org/10.1172/jci114641
Autor:
N. Selvi Gunel, C. Caliskan, Güray Saydam, C. Biray Avci, I. Ozalp, Zeynep Mutlu, Cumhur Gündüz, F. Sahin, Berna Goker
Publikováno v:
Leukemia Research. 38:S61
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::76aff7040117d7d3cdaa9205cc3d6584
https://doi.org/10.1016/s0145-2126(14)70163-8
https://doi.org/10.1016/s0145-2126(14)70163-8
Autor:
I, Ozalp, T, Coşkun, A, Tokatli, H S, Kalkanoğlu, A, Dursun, S, Tokol, G, Köksal, M, Ozgüc, R, Köse
Publikováno v:
The Turkish journal of pediatrics. 43(2)
At present, pkenylketonuria screening is a national child health program in Turkey which is carried out collaboratively by the Ministry of Health and three University Children's Hospitals in Ankara, Istanbul and Izmir. Since 1986 the number of cities
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::55f6350df0a476a5f854222f65f73b30
https://pubmed.ncbi.nlm.nih.gov/11432505
https://pubmed.ncbi.nlm.nih.gov/11432505
Publikováno v:
Human mutation. 13(4)
Classical galactosemia caused by deficiency of galactose-1-phosphate uridyltransferase (GALT) is a severe autosomal recessive disorder. We report here molecular analysis of 16 unrelated Turkish galactosemia index cases without GALT activity. Almost 8
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8081ef5e6230459627f2cc6969b868b7
https://pubmed.ncbi.nlm.nih.gov/10220154
https://pubmed.ncbi.nlm.nih.gov/10220154
Publikováno v:
The Turkish journal of pediatrics. 40(2)
A retrospective study was performed on the clinical outcome of 23 patients with citrullinemia diagnosed during the last 20 years in our clinic. The study group consisted of 13 patients with the neonatal form of the disease, four patients with the sub
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::89b49ac7375c6524e5bd28feeb18f1b3
https://pubmed.ncbi.nlm.nih.gov/9677723
https://pubmed.ncbi.nlm.nih.gov/9677723
Publikováno v:
The Turkish journal of pediatrics. 40(1)
A retrospective study is reported on the clinical outcome of six patients with isovaleric acidemia (IVA) diagnosed during the last 20 years at the Metabolic Unit of Hacettepe University Children's Hospital. IVA is only one of many inborn errors of me
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b9ce53ea6e033c9d10f97f56ca02b521
https://pubmed.ncbi.nlm.nih.gov/9673537
https://pubmed.ncbi.nlm.nih.gov/9673537
Publikováno v:
The Turkish journal of pediatrics. 39(3)
We describe a two-year-old girl who presented with coma following an upper respiratory tract infection. Nonketotic hypoglycemia, metabolic acidosis and mild hyperammonemia were detected. The urinary organic acid profile was consistent with glutaric a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e7ef365ee3c405125a39bff08fe46e82
https://pubmed.ncbi.nlm.nih.gov/9339118
https://pubmed.ncbi.nlm.nih.gov/9339118
Hypophosphatemic vitamin-D resistant rickets associated with epidermal nevus syndrome. A case report
Publikováno v:
The Turkish journal of pediatrics. 39(2)
Epidermal nevus syndrome is characterized by congenital anomalies affecting multiple body systems, especially the skin, skeleton and central nervous system. A form of rickets/osteomalacia that is markedly resistant to treatment with vitamin D has bee
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::49b01d8a566f4006a10abe6d249c6606
https://pubmed.ncbi.nlm.nih.gov/9223923
https://pubmed.ncbi.nlm.nih.gov/9223923
Autor:
K, Tanaka, N, Gregersen, A, Ribes, J, Kim, S, Kølvraa, V, Winter, H, Eiberg, G, Martinez, T, Deufel, B, Leifert, R, Santer, B, François, E, Pronicka, A, László, S, Kmoch, I, Kremensky, L, Kalaydjicva, I, Ozalp, M, Ito
Publikováno v:
Pediatric research. 41(2)
Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is an inborn error of fatty acid metabolism. It is one of the most frequent genetic metabolic disorders among Caucasian children. The G985 allele represented 90% of all the variant alleles of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::198f4cc530b6efe205d3b9ce8207d05b
https://pubmed.ncbi.nlm.nih.gov/9029639
https://pubmed.ncbi.nlm.nih.gov/9029639