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Daniela Karall
Daniela Karall
Verified email at i-med.ac.at
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Cited by
Year
Suggested guidelines for the diagnosis and management of urea cycle disorders
J Häberle, N Boddaert, A Burlina, A Chakrapani, M Dixon, M Huemer, ...
Orphanet journal of rare diseases 7, 1-30, 2012
7262012
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
MR Baumgartner, F Hörster, C Dionisi-Vici, G Haliloglu, D Karall, ...
Orphanet journal of rare diseases 9, 1-36, 2014
6772014
Suggested guidelines for the diagnosis and management of urea cycle disorders: first revision
J Häberle, A Burlina, A Chakrapani, M Dixon, D Karall, M Lindner, ...
Journal of inherited metabolic disease 42 (6), 1192-1230, 2019
3952019
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
2712015
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
2542015
Treatment recommendations in long‐chain fatty acid oxidation defects: consensus from a workshop
U Spiekerkoetter, M Lindner, R Santer, M Grotzke, MR Baumgartner, ...
Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2009
2362009
The genetic landscape and epidemiology of phenylketonuria
A Hillert, Y Anikster, A Belanger-Quintana, A Burlina, BK Burton, ...
The American Journal of Human Genetics 107 (2), 234-250, 2020
2262020
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision
N Boy, C Mühlhausen, EM Maier, J Heringer, B Assmann, P Burgard, ...
Journal of inherited metabolic disease 40, 75-101, 2017
2172017
Management and outcome in 75 individuals with long‐chain fatty acid oxidation defects: results from a workshop
U Spiekerkoetter, M Lindner, R Santer, M Grotzke, MR Baumgartner, ...
Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2009
1852009
Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients
SC Grünert, S Müllerleile, L De Silva, M Barth, M Walter, K Walter, ...
Orphanet journal of rare diseases 8, 1-9, 2013
1782013
The enigmatic role of tafazzin in cardiolipin metabolism
RH Houtkooper, M Turkenburg, BT Poll-The, D Karall, C Pérez-Cerdá, ...
Biochimica et Biophysica Acta (BBA)-Biomembranes 1788 (10), 2003-2014, 2009
1772009
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: first revision
P Forny, F Hörster, D Ballhausen, A Chakrapani, KA Chapman, ...
Journal of inherited metabolic disease 44 (3), 566-592, 2021
1682021
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
M Baumann, C Giunta, B Krabichler, F Rüschendorf, N Zoppi, M Colombi, ...
The American Journal of Human Genetics 90 (2), 201-216, 2012
1672012
Spectrum of combined respiratory chain defects
JA Mayr, TB Haack, P Freisinger, D Karall, C Makowski, J Koch, ...
Journal of inherited metabolic disease 38, 629-640, 2015
1512015
Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy
M Huemer, S Scholl-Bürgi, K Hadaya, I Kern, R Beer, K Seppi, B Fowler, ...
Orphanet journal of rare diseases 9, 1-12, 2014
1272014
Prolonged QTc intervals and decreased left ventricular contractility in patients with propionic acidemia
D Baumgartner, S Scholl-Bürgi, JO Sass, W Sperl, U Schweigmann, ...
The Journal of pediatrics 150 (2), 192-197. e1, 2007
1202007
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency
G Brea-Calvo, TB Haack, D Karall, A Ohtake, F Invernizzi, R Carrozzo, ...
The American Journal of Human Genetics 96 (2), 309-317, 2015
1112015
Natural history of vanishing white matter
EMC Hamilton, HDW van der Lei, G Vermeulen, JAM Gerver, ...
Annals of neurology 84 (2), 274-288, 2018
1052018
Propionic acidemia: neonatal versus selective metabolic screening
SC Grünert, S Müllerleile, L De Silva, M Barth, M Walter, K Walter, ...
Journal of inherited metabolic disease 35, 41-49, 2012
1032012
Cross-sectional observational study of 208 patients with non-classical urea cycle disorders
CM Rüegger, M Lindner, D Ballhausen, MR Baumgartner, S Beblo, A Das, ...
Journal of inherited metabolic disease 37, 21-30, 2014
982014
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