Следене
Ivo Barić
Ivo Barić
Profesor medicine, Medicinski fakultet, Sveučilište u Zagrebu
Потвърден имейл адрес: kbc-zagreb.hr
Заглавие
Позовавания
Позовавания
Година
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies
RW Taylor, A Pyle, H Griffin, EL Blakely, J Duff, L He, T Smertenko, ...
Jama 312 (1), 68-77, 2014
3682014
A phase 3 trial of sebelipase alfa in lysosomal acid lipase deficiency
BK Burton, M Balwani, F Feillet, I Barić, TA Burrow, C Camarena Grande, ...
New England Journal of Medicine 373 (11), 1010-1020, 2015
2832015
The mutational spectrum of human malignant autosomal recessive osteopetrosis
C Sobacchi, A Frattini, P Orchard, O Porras, I Tezcan, M Andolina, ...
Human molecular genetics 10 (17), 1767-1773, 2001
2692001
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
S Kölker, AG Cazorla, V Valayannopoulos, AM Lund, AB Burlina, ...
Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2015
2582015
S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism
I Barić, K Fumić, B Glenn, M Ćuk, A Schulze, JD Finkelstein, SJ James, ...
Proceedings of the National Academy of Sciences 101 (12), 4234-4239, 2004
2492004
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
S Kölker, V Valayannopoulos, AB Burlina, J Sykut-Cegielska, FA Wijburg, ...
Journal of inherited metabolic disease 38, 1059-1074, 2015
2452015
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
S Kölker, V Valayannopoulos, AB Burlina, J Sykut-Cegielska, FA Wijburg, ...
Journal of inherited metabolic disease 38, 1059-1074, 2015
2452015
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness
SB Wortmann, FM Vaz, T Gardeitchik, LELM Vissers, GH Renkema, ...
Nature genetics 44 (7), 797-802, 2012
2272012
Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I
I Harting, E Neumaier-Probst, A Seitz, EM Maier, B Assmann, I Baric, ...
Brain 132 (7), 1764-1782, 2009
1842009
Frequency of RET mutations in long and short segment Hirschsprung disease
GR M Seri, L Yin, V Barone, A Bolino, I Celli, R Bocciardi, B Pasini, I ...
Human Mutation 9, 243-249, 1997
1631997
Diagnosis and management of glutaric aciduria type I
I Barić, J Zschocke, E Christensen, M Duran, SI Goodman, JV Leonard, ...
Journal of inherited metabolic disease 21, 326-340, 1998
1551998
Sensitivity and specificity of free and total glutaric acid and 3‐hydroxyglutaric acid measurements by stable‐isotope dilution assays for the diagnosis of glutaric aciduria type I
I Baric, L Wagner, P Feyh, M Liesert, W Buckel, GF Hoffmann
Journal of inherited metabolic disease 22 (8), 867-882, 1999
1481999
Novel OCTN2 mutations: No genotype–phenotype correlations: Early carnitine therapy prevents cardiomyopathy
AM Lamhonwah, SE Olpin, RJ Pollitt, C Vianey‐Saban, P Divry, N Guffon, ...
American journal of medical genetics 111 (3), 271-284, 2002
1332002
Biallelic mutations in NBAS cause recurrent acute liver failure with onset in infancy
TB Haack, C Staufner, MG Köpke, BK Straub, S Kölker, C Thiel, ...
The American Journal of Human Genetics 97 (1), 163-169, 2015
1262015
An overview of L‐2‐hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype–phenotype study
ME Steenweg, C Jakobs, A Errami, SJM van Dooren, ...
Human mutation 31 (4), 380-390, 2010
1242010
Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts
C Staufner, TB Haack, MG Köpke, BK Straub, S Kölker, C Thiel, ...
Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2016
1132016
Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9
TB Haack, F Madignier, M Herzer, E Lamantea, K Danhauser, F Invernizzi, ...
Journal of medical genetics 49 (2), 83-89, 2012
1052012
Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes
PP Jumbo-Lucioni, K Garber, J Kiel, I Baric, GT Berry, A Bosch, A Burlina, ...
Journal of inherited metabolic disease 35, 1037-1049, 2012
1022012
Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy
SH Kevelam, M Bugiani, GS Salomons, A Feigenbaum, S Blaser, ...
Brain 136 (5), 1534-1543, 2013
992013
S-Adenosylhomocysteine hydrolase deficiency: A second patient, the younger brother of the index patient, and outcomes during therapy
I Barić, M Ćuk, K Fumić, O Vugrek, RH Allen, B Glenn, M Maradin, ...
Journal of inherited metabolic disease 28, 885-902, 2005
972005
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Статии 1–20