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Title: Inherited metabolic diseases
Title: Corticosterone methyloxydase deficiency type II in a
Croatian girl
Title: Gammaglobulin in therapy of autoimmune haemolytic anemia
Title: Extrahepatic portal hypertension
Title: Osteomyelitis as a complication of capillary blood
collection for neonatal screening
Title: Hyperuricemia in childhood with special emphasis on
Lesch-Nyhan syndrome
Title: New developments in newborn screening
Title: Possibilities for molecular genetic studies of congenital
immunodeficiencies
Title: Homocystinuria: case report and review of homocysteinaemia
as a risk factor for cardiovascular diseases
Title: HIV-negative, CD4+-lymphocytopenia in a boy with
idiopathic granulomatous hepatitis: New aspects of an old diagnostic
challange
Title: A familial case of DiGeorge syndrome in the light of still
missing diagnostic criteria
Title: Sodium valproate induced hyperammoniaemia with lethargy
and convulsions without clinical hepatic dysfunction
Title: Genetically deteremined metabolic disorders in
neuropediatrics
Title: Inherited metabolic liver diseases
Title: Escape from screening for phenyulketonuria and congenital
hypothyroidism
Title: Geographical distribution of the P281L mutation at the
phenylalanine-hydroxylase (PAH) locus: possible origin in south-eastern
Europe
Title: Pseudohypoaldosteronism - clinical presentation and
laboratoy findings in seven patients
Title: Interest for the prenatal diagnosis of phenylketonuria -
Croatian experience
Title: View on the first moelcular studies of inherited disease
of metabolism in Croatia
Title: Propionic acidaemia - first Croatian patients
Title: Unusual presentation of 3-methylglutaconic aciduria in a
Croatian boy
Title: A brief accouint on the croatian newborn screening
programme
Title: Hereditary thrombocytopenia with microangiopathic
hemolytic anemia - the Upshaw-Schulman syndrome
Title: Growth of early treated children with phenylketonuria in
Croatia
Title: Mutations on the phenylalanine-hydroxylase gene in the
Croatian population
Faculty: Medicinski Zagreb
Author: BARIĆ IVO
Date of defense: 07/08/92
Language: hrvatski
Number of pages: 111
Summary: The aim of this investigation was to determine the RFLP
haplo-type distribution and to detect the mutations at the PAH locus inthe
population of Croatia. Using Southern blot method with 32P-
labelled PAH cDNA as a probe and allele-specific oligonucleo-
tides, haplotypes and mutations at the PAH locus have been stud-
ied in 25 families from Croatia. The study revealed nine muta-
tions, comprising 70% of PKU alleles in Croatia, on the back-
ground of 7 mutant haplotypes. Among the mutant alleles, haplo-
type 2 was most frequent (38%) and was always associated with the
mutation in codon 408. Haplotype 1 accounts for 22% of the PKU
alleles in Croatia. It was associated with mutation in codon 281
in 55% of the mutant haplotype 1 alleles, which is the highest
frequency of this mutation observed thus far. These data are in
accordance with formerly published population genetic analyses.
!
Keywords: phenylalanine-hydroxylase, mutations, phenylketonuria hyperphenylalaninemias, molecular genetics, Croatia
Title: Evaluation of the screening programme and longterm
treatment of children with phenylketonuria in the Republic of Croatia
Faculty: Medicinski Zagreb
Mentor: MARDEŠIĆ DUŠKO
Date of defense: 12/20/03
Number of pages: 104
Author: Sarnavka dr.med. Vladimir
Degree level: M.A.
Title: Physical growth of children treated for phenylketonuria
and congenital hypothyroidism
Faculty: Medicinski Zagreb
Mentor: MARDEŠIĆ DUŠKO
Date of defense: 06/23/95
Number of pages: 33
Author: Car S
Degree level: D.A.
Title: Mutation of the gene for phenylalaninehydroxylase in the
population of Croatia
Faculty: Medicinski Zagreb
Mentor: MARDEŠIĆ DUŠKO
Date of defense: 02/01/92
Number of pages: 111
Author: Barić Ivo
Degree level: Ph.D.
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