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 | 368 | 2014 |
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 | 283 | 2015 |
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 | 269 | 2001 |
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 | 258 | 2015 |
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 | 249 | 2004 |
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 | 245 | 2015 |
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 | 245 | 2015 |
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 | 227 | 2012 |
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 | 184 | 2009 |
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 | 163 | 1997 |
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 | 155 | 1998 |
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 | 148 | 1999 |
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 | 133 | 2002 |
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 | 126 | 2015 |
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 | 124 | 2010 |
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 | 113 | 2016 |
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 | 105 | 2012 |
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 | 102 | 2012 |
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 | 99 | 2013 |
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 | 97 | 2005 |