Zobrazeno 1 - 10
of 81
pro vyhledávání: '"V. Sarnavka"'
Akademický článek
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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:
Acta medica Croatica : casopis Hravatske akademije medicinskih znanosti. 50(3)
A ten-months-old girl was evaluated for developmental delay, increased muscle tone and seizures. CT and MRI revealed un uncommon combination of two different manifestations of neuronal migration disturbance: agyria/pachygyria and subcortical laminar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::fd1d49694fac422ba3b75fa8eb7997bc
https://pubmed.ncbi.nlm.nih.gov/8890534
https://pubmed.ncbi.nlm.nih.gov/8890534
Publikováno v:
Lijecnicki vjesnik. 112(11-12)
The case history of an infant with congenital hyperammonaemia due to inherited ornithine-transcarbamylase deficiency is presented together with some basic data on his family. The metabolic cycle of urea synthesis is delineated with its enzymes and th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a16a5325a76223fd1f57292687a10452
https://pubmed.ncbi.nlm.nih.gov/2097476
https://pubmed.ncbi.nlm.nih.gov/2097476
Publikováno v:
Acta medica Iugoslavica. 44(1)
In 1985 a newborn screening programme for the detection of congenital hypothyreosis was introduced in Croatia in addition to the already existing one for phenylketonuria. The paper delineates the organization of the screening programme, the method us
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::8a4583b8b27f904ff68ba921dc6eb557
https://pubmed.ncbi.nlm.nih.gov/2336964
https://pubmed.ncbi.nlm.nih.gov/2336964
Akademický článek
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Akademický článek
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Publikováno v:
Lijecnicki vjesnik. 105(4)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c831f7188e6ec0e37861d3a32189f7a6
https://pubmed.ncbi.nlm.nih.gov/6602259
https://pubmed.ncbi.nlm.nih.gov/6602259