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Pregled bibliografske jedinice broj: 83068

Spinal dysraphism associated with congenital heart disorder in a girl with MELAS syndrome and point mutation at nucleotide 3271 of the mitochondrial DNA.

Barišić, Nina; Martin-Kleiner, Irena; Malčić, Ivan; Papa, Jurica; Boranić, Milivoj
Spinal dysraphism associated with congenital heart disorder in a girl with MELAS syndrome and point mutation at nucleotide 3271 of the mitochondrial DNA. // Croatian Medical Journal, 43 (2002), 1; 37-41 (međunarodna recenzija, članak, znanstveni)

CROSBI ID: 83068 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Spinal dysraphism associated with congenital heart disorder in a girl with MELAS syndrome and point mutation at nucleotide 3271 of the mitochondrial DNA.

Autori
Barišić, Nina ; Martin-Kleiner, Irena ; Malčić, Ivan ; Papa, Jurica ; Boranić, Milivoj

Izvornik
Croatian Medical Journal (0353-9504) 43 (2002), 1; 37-41

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
DNA; mitochondrial; heart septal defects; ventricular; MELAS syndrome; meningocele; spinal dysraphism; point mutation

Sažetak
We describe a case of mitochondrial encephalopathy, lactacidosis and stroke-like episode (MELAS syndrome) associated with ventricular septal defect and meningocele at the L3 level in a 5 year old girl. Mitochondrial DNA analysis showed point mutation at nucleotide 3271 T C. The occurrence of heart and neural tube defects in association with usual features of the MELAS syndrome might be explained by defective high energy metabolism during early embryogenesis or attributed to a common genetic cause.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti



POVEZANOST RADA

Projekti:
0098094
00981106
0219111
214101

Ustanove:
Institut "Ruđer Bošković", Zagreb,
Klinički bolnički centar Zagreb,
Medicinski fakultet, Osijek

Profili:

Avatar Url Jurica Papa (autor)

Avatar Url Milivoj Boranić (autor)

Avatar Url Nina Barišić (autor)

Avatar Url Ivan Malčić (autor)

Avatar Url Irena Martin-Kleiner (autor)

Citiraj ovu publikaciju:

Barišić, Nina; Martin-Kleiner, Irena; Malčić, Ivan; Papa, Jurica; Boranić, Milivoj
Spinal dysraphism associated with congenital heart disorder in a girl with MELAS syndrome and point mutation at nucleotide 3271 of the mitochondrial DNA. // Croatian Medical Journal, 43 (2002), 1; 37-41 (međunarodna recenzija, članak, znanstveni)
Barišić, N., Martin-Kleiner, I., Malčić, I., Papa, J. & Boranić, M. (2002) Spinal dysraphism associated with congenital heart disorder in a girl with MELAS syndrome and point mutation at nucleotide 3271 of the mitochondrial DNA.. Croatian Medical Journal, 43 (1), 37-41.
@article{article, author = {Bari\v{s}i\'{c}, Nina and Martin-Kleiner, Irena and Mal\v{c}i\'{c}, Ivan and Papa, Jurica and Borani\'{c}, Milivoj}, year = {2002}, pages = {37-41}, keywords = {DNA, mitochondrial, heart septal defects, ventricular, MELAS syndrome, meningocele, spinal dysraphism, point mutation}, journal = {Croatian Medical Journal}, volume = {43}, number = {1}, issn = {0353-9504}, title = {Spinal dysraphism associated with congenital heart disorder in a girl with MELAS syndrome and point mutation at nucleotide 3271 of the mitochondrial DNA.}, keyword = {DNA, mitochondrial, heart septal defects, ventricular, MELAS syndrome, meningocele, spinal dysraphism, point mutation} }
@article{article, author = {Bari\v{s}i\'{c}, Nina and Martin-Kleiner, Irena and Mal\v{c}i\'{c}, Ivan and Papa, Jurica and Borani\'{c}, Milivoj}, year = {2002}, pages = {37-41}, keywords = {DNA, mitochondrial, heart septal defects, ventricular, MELAS syndrome, meningocele, spinal dysraphism, point mutation}, journal = {Croatian Medical Journal}, volume = {43}, number = {1}, issn = {0353-9504}, title = {Spinal dysraphism associated with congenital heart disorder in a girl with MELAS syndrome and point mutation at nucleotide 3271 of the mitochondrial DNA.}, keyword = {DNA, mitochondrial, heart septal defects, ventricular, MELAS syndrome, meningocele, spinal dysraphism, point mutation} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE

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