Zobrazeno 1 - 10
of 281
pro vyhledávání: '"N, Beşbaş"'
Publikováno v:
The Turkish journal of pediatrics. 43(2)
M467T mutation (exon 8) in rBAT gene is found to be the most common mutation in cystinuria type I patients. In our series consisting of 24 patients, the allele frequency of the M467T mutation was 8.3 percent (4/48). The second most frequent mutation
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a3c703be3adc7c9d36dc47a11e5f426c
https://pubmed.ncbi.nlm.nih.gov/11432486
https://pubmed.ncbi.nlm.nih.gov/11432486
Publikováno v:
The Turkish journal of pediatrics. 41(4)
We report in this article a girl with an initial diagnosis of autoimmune hepatitis who developed full-blown systemic lupus erythematosus (SLE) at her two-years follow-up. She was formerly considered as HBV-related chronic active hepatitis but due to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bec5abf4a8cacc67c74359f2445a66fa
https://pubmed.ncbi.nlm.nih.gov/10770126
https://pubmed.ncbi.nlm.nih.gov/10770126
Publikováno v:
The Turkish journal of pediatrics. 41(3)
Familial Mediterranean fever (FMF) is an autosomal recessively transmitted disease characterized by attacks of fever and serositis. The course of arthritis, which is a common manifestation of FMF, is generally benign. Sacroiliitis due to FMF has been
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8df25b3381a573e03d7338cfc5f42c96
https://pubmed.ncbi.nlm.nih.gov/10770103
https://pubmed.ncbi.nlm.nih.gov/10770103
Publikováno v:
The Turkish journal of pediatrics. 42(1)
Cyclic neutropenia is a rare disease characterized by regular cyclic fluctuations in the numbers of neutrophils. Patients with the disease suffer from recurrent infections at regular intervals of nearly three weeks. Recently, recombinant human granul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5a0e2bfe2dd1c2410376fc017b17cbb5
https://pubmed.ncbi.nlm.nih.gov/11432504
https://pubmed.ncbi.nlm.nih.gov/11432504
Publikováno v:
The Turkish journal of pediatrics. 40(2)
Autosomal recessive polycystic kidney disease (ARPCD) is a congenital kidney disease with severe prognosis. We present a male infant who was diagnosed prenatally by ultrasonography. He died at two months of age in a septic stage. The genetic defect f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c7170d3e796c647d7cfd269bf60d5684
https://pubmed.ncbi.nlm.nih.gov/9677730
https://pubmed.ncbi.nlm.nih.gov/9677730
Publikováno v:
The Turkish journal of pediatrics. 39(1)
Arterial thrombosis in systemic lupus erythematosus (SLE) and nephrotic syndrome have been infrequently reported. A 16-year-old boy with SLE and longstanding nephrotic syndrome presented with peripheral arterial thrombosis when his lupus was at an in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::00b1d356f289bf6fcbbd0741650e9be0
https://pubmed.ncbi.nlm.nih.gov/10868207
https://pubmed.ncbi.nlm.nih.gov/10868207
Publikováno v:
The Turkish journal of pediatrics. 38(2)
We report a case of systemic lupus erythematosus initially presenting with thrombocytopenia and diagnosed as immune thrombocytopenic purpura. The patient subsequently developed lymphadenopathy, arthritis and cardiac involvement along with anticardiol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2a60fc3a56a63fb666e03cdd7d9497ca
https://pubmed.ncbi.nlm.nih.gov/8701490
https://pubmed.ncbi.nlm.nih.gov/8701490
Publikováno v:
The Turkish journal of pediatrics. 37(4)
Cardiovascular complications are an important cause of morbidity and mortality in chronic hemodialysis patients. In order to examine the effect of parathyroid hormone (PTH) and vitamin D on left ventricular functions, 11 patients between the ages of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::828692bfa75e78d070f44ce374197815
https://pubmed.ncbi.nlm.nih.gov/8560596
https://pubmed.ncbi.nlm.nih.gov/8560596
Publikováno v:
The Turkish journal of pediatrics. 37(2)
Systemic lupus erythematosus (SLE) is a rare disease in childhood. Here two cases with SLE are presented, both with C4 null alleles yielding a functional C4 deficiency. The first case, a 14-year-old girl with a C4A null allele only, had a mild diseas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::30734f38a282adfcdec2669eeb339f66
https://pubmed.ncbi.nlm.nih.gov/7597765
https://pubmed.ncbi.nlm.nih.gov/7597765
Publikováno v:
The Turkish journal of pediatrics. 36(4)
A four-year-old girl presenting with fever and purpuric lesions was diagnosed with systemic vasculitis based on her clinical and laboratory findings. She also had homozygote beta thalassemia. Oral steroids were administered and during the course of h
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::f6e3b0c46c9feb853933822ee373798d
https://pubmed.ncbi.nlm.nih.gov/7825242
https://pubmed.ncbi.nlm.nih.gov/7825242