Biomedical subjects

D Begović

Publications and source records attributed to D Begović.

16 recordsLinked to original sources

PubMed2001

A new case of succinyl-CoA:acetoacetate transferase deficiency: favourable course despite very low residual activity.

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Coenzyme A-Transferases↗

PubMed1998

Molecular analysis and electromyoneurographic abnormalities in Croatian children with proximal spinal muscular atrophies.

Childhood onset proximal spinal muscular atrophy presents with considerable clinical variability. This study included 14 Croatian children aged 11 days to 8 years with spinal muscular atrophy types I-III verified clinically and electromyoneurographically. DNA of affected children was screened for deletions of exons 7 and 8 of the survival motor neuron gene and for deletion of exon 5 of the neuronal apoptosis inhibitor protein gene. Motor nerve conduction velocity and compound muscle action potential amplitude were decreased in children with spinal muscular atrophy type I and II. Deletions of exons 7 and 8 of the survival motor neuron gene and of exon 5 of the neuronal apoptosis inhibitor protein gene in children with spinal muscular atrophy type I-II suggested existence of more genetic abnormalities as compared to type III. A decrease in compound muscle action potential amplitude and motor nerve conduction velocity in children with spinal muscular atrophy correlated with the disease severity, probably as a result of axonal degeneration. Phenotypic severity in children onset spinal muscular atrophy is directly correlated with the extent of survival motor neuron and neuronal apoptosis inhibitor protein exon deletions.

Child↗

PubMed1989

[The Goltz-Gorlin syndrome in a male child].

A one-year-old boy with focal dermal hypoplasia (Goltz syndrome) is reported in this paper. Numerous malformations (coloboma of the iris, syndactylia, pyelon and urether duplex 1. sin, cystouretheral reflux, hypospadia), typical changes on the skin, numerous papillomas and psychomotoric retardation have been found. The disease has been proved by the skin-biopsy finding. Our patient, unlike so far described affected persons differed in having a severe papillomatosis of the larynx which necessitated the performance of tracheotomy at the age of one year. Described patient represents a fresh mutation in the family.

Ectodermal Dysplasia↗

PubMed1987