Zobrazeno 1 - 10
of 82
pro vyhledávání: '"G, Kispál"'
Autor:
M, Kecskés, A, Nagy, T, Vidra, G, Kispál, G, Radványi, K, Vezendi, L, Hajnal, R, Kellner, H, Losonczy
Publikováno v:
Orvosi hetilap. 142(7)
The authors report the first data having applied the indirect genomic diagnosis in carrier screening in Hungary. 22 patients with haemophilia B and female family members of 14 out of them were examined by PCR based restriction fragment length polymor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::abfdbe3449d7ac811d87a92b7071ff18
https://pubmed.ncbi.nlm.nih.gov/11243016
https://pubmed.ncbi.nlm.nih.gov/11243016
Publikováno v:
Journal of inherited metabolic disease. 22(7)
Profound decrease of the carnitine acetyltransferase activity (0.08 U/g wet weight; 1.67% of control) and carnitine deficiency (total carnitine was 230 nmol/g wet weight in the patient vs 2730 in the controls) was detected in the skeletal muscle of a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffea3bc027ddc223db0e50f0d57f146c
https://pubmed.ncbi.nlm.nih.gov/10518284
https://pubmed.ncbi.nlm.nih.gov/10518284
Publikováno v:
Orvosi hetilap. 136(24)
The case of a female patient with cardio-encephalo-myopathy who died of her illness at one year of age, similarly to her three sisters, is reported. In autopsy samples, like muscle, heart, liver and cerebellum activities of several mitochondrial enzy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7649b25241ddcbf1fe0b2467bb8049ff
https://pubmed.ncbi.nlm.nih.gov/7596586
https://pubmed.ncbi.nlm.nih.gov/7596586
Publikováno v:
Acta paediatrica Hungarica. 28(2)
Plasma levels and urinary carnitine excretion rates were determined in children treated with valproic acid (n = 11) and in age and sex matched controls (n = 11). Urine was collected throughout two consecutive 24 h periods in both groups, and blood sa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::637b417abdb5e2c159e641fcee09f454
https://pubmed.ncbi.nlm.nih.gov/3122798
https://pubmed.ncbi.nlm.nih.gov/3122798
Publikováno v:
Acta paediatrica Hungarica. 27(3)
Effect of L-carnitine supplementation on plasma ketone body (KB) and triglyceride (TG) concentrations was studied in ten premature infants requiring combined enteral and parenteral nutrition. At the second week of life (9 to 14 days of age) the infan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c2034052e43de3373bc41b42f04c252e
https://pubmed.ncbi.nlm.nih.gov/3096350
https://pubmed.ncbi.nlm.nih.gov/3096350
Publikováno v:
Acta paediatrica Hungarica. 27(4)
Forearm muscle metabolism was studied in twelve appropriate for gestational age premature infants suffering from respiratory distress. Arterial blood was obtained by puncture of the radial artery as clinically indicated for measuring oxygen tension,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b7fac74294c19c46e85c9adc56feaf34
https://pubmed.ncbi.nlm.nih.gov/3593582
https://pubmed.ncbi.nlm.nih.gov/3593582
Publikováno v:
Biology of the neonate. 51(4)
Effects of oral L-carnitine supplementation on fat and protein metabolism have been studied in 20 low-birth-weight premature infants (mean weight at birth 1.519 g, range 1,200-1,880 g) fed with pooled pasteurized human milk. Throughout 7 consecutive
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4944c42a67eb97a780b7aaf993429553
https://pubmed.ncbi.nlm.nih.gov/3580423
https://pubmed.ncbi.nlm.nih.gov/3580423
Publikováno v:
Pediatric Research. 20:1038-1038
As the carnitine /C/ content of human milk declines during lactation, it is doubtful, that its amount is adequate to statisfy the daily needs of premature infants fed with pooled milk. Effects of supplementation have been studied in 20 AGA premature
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::86f7b4ebebdf656a9db924aeca566483
https://doi.org/10.1203/00006450-198610000-00080
https://doi.org/10.1203/00006450-198610000-00080
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Kniha
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