Zobrazeno 1 - 10
of 102
pro vyhledávání: '"Z, Havass"'
Autor:
Éva Sallay, Cs. Somogyi, A. Várkonyi, Barry Wolf, Emoke Endreffy, É. Á. Schuler, Aranka László, Z. Havass, K. P. Jansen
Publikováno v:
Journal of Inherited Metabolic Disease. 26:693-698
Summary: From 1989 to 2001, 1 336 145 newborns were screened for biotinidase deficiency in Hungary. Fifty-eight children with the disorder were identified as enzyme-deficient. We have characterized the clinical and biochemical features and mutations
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::962bac094eeec5d1a698b73342d1c96c
https://doi.org/10.1023/b:boli.0000005622.89660.59
https://doi.org/10.1023/b:boli.0000005622.89660.59
Publikováno v:
Prostaglandins, Leukotrienes and Essential Fatty Acids. 51:69-73
Platelet function was studied in 56 children with nephrotic syndrome, 33 were on oral prednisolone (P) treatment (group 1), while 23 were in early (< 6 months) remission (group 2): 12 on P (group 2a) and 11 not on P (group 2b), and there were 18 cont
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::820bbedaff68d2eb3cd240f372aa088c
https://doi.org/10.1016/0952-3278(94)90181-3
https://doi.org/10.1016/0952-3278(94)90181-3
Extensive bluish gray skin pigmentation and severe arthropathy. Endogenous ochronosis (alkaptonuria)
Publikováno v:
Archives of dermatology. 136(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::575faed331e0dd9d59052ed5aec022f2
https://pubmed.ncbi.nlm.nih.gov/10768658
https://pubmed.ncbi.nlm.nih.gov/10768658
Publikováno v:
Pediatric nephrology (Berlin, Germany). 8(6)
The effect of 1-year erythropoietin (rHu-EPO) treatment on the bleeding time, platelet aggregation, ATP and thromboxane B2 (TXB2) release, cyclic AMP (cAMP) concentration and platelet surface positive charge were studied in 8 haemodialysed children w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8c646b5877ba8994aa70a93a5fd381d
https://pubmed.ncbi.nlm.nih.gov/7696114
https://pubmed.ncbi.nlm.nih.gov/7696114
Publikováno v:
Orvosi hetilap. 133(48)
The genetical types were classified according to the clinical findings and biochemical results in cases of 13 newborn/children suffering from various aminoacidopathies. The genetical types were: 3 neonatal and 4 infantile types were found out of 7 no
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::318ca840e905a9d88e353834409cfcc6
https://pubmed.ncbi.nlm.nih.gov/1448273
https://pubmed.ncbi.nlm.nih.gov/1448273
Publikováno v:
Pediatric nephrology (Berlin, Germany). 5(3)
The effects of chronic uraemia and serial acetate (HDA) or bicarbonate (HDB) haemodialysis on the aggregation, thromboxane B2 (TXB2) release and cyclic AMP (cAMP) concentration of platelets from arterial blood were studied in 14 uraemic patients (6 d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85bbb6df557cb6f1907c50c9a2154735
https://pubmed.ncbi.nlm.nih.gov/1651098
https://pubmed.ncbi.nlm.nih.gov/1651098
Publikováno v:
Acta paediatrica Hungarica. 31(4)
Biochemical and ultrastructural investigations were made in 2 children suffering from mucolipidosis type III. Among the lysosomal hydrolases the activity of beta-galactosidase and alfa-fucosidase diminished in the homogenate of the peripheral leukocy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::729a900d0152c856502d2a11f7a8b566
https://pubmed.ncbi.nlm.nih.gov/1790025
https://pubmed.ncbi.nlm.nih.gov/1790025
Publikováno v:
Orvosi hetilap. 131(47)
In two series of newborns needing intensive care the presence, the degree and the prognostic value of myoglobinaemia was examined. In series I. of hypoxic newborns the myoglobinaemia was present even in infants requiring less than 60% O2 therapy. The
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::16aa07f6a4374d05f1254422955c7634
https://pubmed.ncbi.nlm.nih.gov/2247305
https://pubmed.ncbi.nlm.nih.gov/2247305
Publikováno v:
International Urology and Nephrology. 18:463-470
Changes of serum lipids and lipoproteins were determined quantitatively before and after haemodialysis in chronic uraemic patients. Serum beta-lipoprotein significantly decreased due to haemodialysis, while alpha-lipoprotein and the FFA level signifi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ba3138022625301212e8552d4e5076c
https://doi.org/10.1007/bf02084120
https://doi.org/10.1007/bf02084120