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pro vyhledávání: '"D. Mardešić"'
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Publikováno v:
Screening. 1:243-247
We are reporting on two healthy newborns who acquired staphylococcal osteomyelitis of the calcaneus and calcaneus and talus, respectively, due to infected heel puncture or due to direct inoculation of the calcaneus by periosteal penetration during ca
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f6435cf31cbf5afb8670f7fedb7684e4
https://doi.org/10.1016/0925-6164(92)90040-c
https://doi.org/10.1016/0925-6164(92)90040-c
Autor:
D. Mardešić, G. Gjuric, I. Baric, Friedrich K. Trefz, Uta Lichter-Konecki, V. Sarnavka, B. Göbel-Schreiner, D. S. Konecki
Publikováno v:
Human Genetics. 90:155-157
Restriction fragment length polymorphism (RFLP) haplotypes and mutations at the phenylalanine hydroxylase (PAH) locus have been studied in 25 unrelated families from Croatia. The results of RFLP analysis demonstrated that 80% of the mutant alleles we
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fcf5cc6e164f530a52db54fdff1bf8b5
https://doi.org/10.1007/bf00210763
https://doi.org/10.1007/bf00210763
Publikováno v:
Journal of Endocrinological Investigation. 15:197-199
This is a brief case report on a four-month-old girl who was admitted for failure to thrive and moderate dehydration. On admission she was mildly dehydrated and undernourished but with otherwise normal physical findings. Laboratory investigation disc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::909d6a14bcd47854f3d9d4079aab56ea
https://doi.org/10.1007/bf03348705
https://doi.org/10.1007/bf03348705
Publikováno v:
Journal of inherited metabolic disease. 17(3)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d6166953326131e21e5a006dd0b6996
https://pubmed.ncbi.nlm.nih.gov/7807961
https://pubmed.ncbi.nlm.nih.gov/7807961
Publikováno v:
Journal of Inherited Metabolic Disease. 9:234-236
In 1979 a screening programme for phenylketonuria (PKU) was started in SR Croatia by the Department of Paediatrics, University Hospital Rebro, Zagreb. This is one of three regional programmes now running in Yugoslavia (Mardesic et al., 1983); the oth
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e41989bf6cffc3b2c14b5dbea7a64dfb
https://doi.org/10.1007/bf01799715
https://doi.org/10.1007/bf01799715
Plasma renin activity and plasma aldosterone concentration in infants with various potassium intakes
Publikováno v:
European Journal of Pediatrics. 139:139-141
Plasma renin activity (PRA) and aldosterone concentration (PA) were measured in 20 healthy infants from 1 to 12 months of age during normal (3.03 mmol/kg/d) and high (5.20 mmol/kg/d) potassium intake. PRA did not change between regimes. PA rose signi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c7856343db08852f404ffa18100d187f
https://doi.org/10.1007/bf00441498
https://doi.org/10.1007/bf00441498
Publikováno v:
Journal of endocrinological investigation. 7(4)
This is a 21-month-old boy with pseudohypoaldosteronism (PHA) in coincidence with celiac disease. The diagnosis of PHA was made on the basis of hyponatremia, hyperkalemia and large urinary salt losses, as well as high renin activity and aldosterone l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e327482975c17b11e723978fc0476862
https://pubmed.ncbi.nlm.nih.gov/6389661
https://pubmed.ncbi.nlm.nih.gov/6389661
Publikováno v:
Practical Developments in Inherited Metabolic Disease: DNA Analysis, Phenylketonuria and Screening for Congenital Adrenal Hyperplasia ISBN: 9789401083324
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::41f8098a8403980fc84b568280fac432
https://doi.org/10.1007/978-94-009-4131-1_34
https://doi.org/10.1007/978-94-009-4131-1_34
Publikováno v:
Journal of Neurology. 231:223-224
A case of acute severe generalized muscle rigidity in a 16-month-old child is described. The arm flexors and leg extensors were the most severely involved, with all stretch reflexes absent. Motor conduction velocities on the arms and legs were very s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fefd9380651958247503d94db24248f
https://doi.org/10.1007/bf00313943
https://doi.org/10.1007/bf00313943