Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect

Por Wortmann, Saskia B., Kluijtmans, Leo A. J., Sequeira, Silvia, Wevers, Ron A., Morava, Eva
Publicado no JIMD Rep (2014)

The 3-methylglutaconic acidurias: what’s new?

Por Wortmann, Saskia B., Kluijtmans, Leo A., Engelke, Udo F. H., Wevers, Ron A., Morava, Eva
Publicado em 2010

Whole exome sequencing of suspected mitochondrial patients in clinical practice

Por Wortmann, Saskia B., Koolen, David A., Smeitink, Jan A., van den Heuvel, Lambert, Rodenburg, Richard J.
Publicado no J Inherit Metab Dis (2015)

SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature)

Por Maas, Roeltje R., Marina, Adela Della, de Brouwer, Arjan P. M., Wevers, Ron A., Rodenburg, Richard J, Wortmann, Saskia B.
Publicado no JIMD Rep (2015)

The role of the mitochondrial ribosome in human disease: searching for mutations in 12S mitochondrial rRNA with high disruptive potential

Por Smith, Paul M., Elson, Joanna L., Greaves, Laura C., Wortmann, Saskia B., Rodenburg, Richard J.T., Lightowlers, Robert N., Chrzanowska-Lightowlers, Zofia M.A., Taylor, Robert W., Vila-Sanjurjo, Antón
Publicado em 2014

Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation?

Por Thiels, Charlotte, Fleger, Martin, Huemer, Martina, Rodenburg, Richard J., Vaz, Frederic M., Houtkooper, Riekelt H., Haack, Tobias B., Prokisch, Holger, Feichtinger, René G., Lücke, Thomas, Mayr, Johannes A., Wortmann, Saskia B.
Publicado no JIMD Rep (2016)

Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy

Por Smits, Paulien, Saada, Ann, Wortmann, Saskia B, Heister, Angelien J, Brink, Maaike, Pfundt, Rolph, Miller, Chaya, Haas, Dorothea, Hantschmann, Ralph, Rodenburg, Richard J T, Smeitink, Jan A M, van den Heuvel, Lambert P
Publicado em 2011

SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors

Por Renkema, G Herma, Wortmann, Saskia B, Smeets, Roel J, Venselaar, Hanka, Antoine, Marion, Visser, Gepke, Ben-Omran, Tawfeg, van den Heuvel, Lambert P, Timmers, Henri J L M, Smeitink, Jan A, Rodenburg, Richard J T
Publicado no Eur J Hum Genet (2015)

Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway

Por Kleefstra, Tjitske, Wortmann, Saskia B, Rodenburg, Richard J T, Bongers, Ernie M H F, Hadzsiev, Kinga, Noordam, Cees, van den Heuvel, Lambert P, Nillesen, Willy M, Hollody, Katalin, Gillessen-Kaesbach, Gabrielle, Lammens, Martin, Smeitink, Jan A M, van der Burgt, Ineke, Morava, Eva
Publicado em 2011

Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression

Por Achouitar, Samira, Mohamed, Miski, Gardeitchik, Thatjana, Wortmann, Saskia B., Sykut-Cegielska, Jolanta, Ensenauer, Regina, de Baulny, Hélène Ogier, Õunap, Katrin, Martinelli, Diego, de Vries, Maaike, McFarland, Robert, Kouwenberg, Dorus, Theodore, Miranda, Wijburg, Frits, Grünewald, Stephanie, Jaeken, Jaak, Wevers, Ron A., Nijtmans, Leo, Elson, Joanna, Morava, Eva
Publicado em 2011

Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences

Por Wortmann, Saskia B., Chen, Margaret A., Colombo, Roberto, Pontoglio, Alessandro, Alhaddad, Bader, Botto, Lorenzo D., Yuzyuk, Tatiana, Coughlin, Curtis R., Descartes, Maria, Grűnewald, Stephanie, Maranda, Bruno, Mills, Philippa B., Pitt, James, Potente, Catherine, Rodenburg, Richard, Kluijtmans, Leo A. J., Sampath, Srirangan, Pai, Emil F., Wevers, Ron A., Tiller, George E.
Publicado no J Inherit Metab Dis (2017)

Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations

Por Huemer, Martina, Karall, Daniela, Schossig, Anna, Abdenur, Jose E., Jasmi, Fatma Al, Biagosch, Caroline, Distelmaier, Felix, Freisinger, Peter, Graham, Brett H., Haack, Tobias B., Hauser, Natalie, Hertecant, Jozef, Ebrahimi-Fakhari, Darius, Konstantopoulou, Vassiliki, Leydiker, Karen, Lourenco, Charles M., Scholl-Bürgi, Sabine, Wilichowski, Ekkehard, Wolf, Nicole I., Wortmann, Saskia B., Taylor, Robert W., Mayr, Johannes A., Bonnen, Penelope E., Sperl, Wolfgang, Prokisch, Holger, McFarland, Robert
Publicado no J Inherit Metab Dis (2015)

CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder

Por Wortmann, Saskia B., Ziętkiewicz, Szymon, Kousi, Maria, Szklarczyk, Radek, Haack, Tobias B., Gersting, Søren W., Muntau, Ania C., Rakovic, Aleksandar, Renkema, G. Herma, Rodenburg, Richard J., Strom, Tim M., Meitinger, Thomas, Rubio-Gozalbo, M. Estela, Chrusciel, Elzbieta, Distelmaier, Felix, Golzio, Christelle, Jansen, Joop H., van Karnebeek, Clara, Lillquist, Yolanda, Lücke, Thomas, Õunap, Katrin, Zordania, Riina, Yaplito-Lee, Joy, van Bokhoven, Hans, Spelbrink, Johannes N., Vaz, Frédéric M., Pras-Raves, Mia, Ploski, Rafal, Pronicka, Ewa, Klein, Christine, Willemsen, Michel A.A.P., de Brouwer, Arjan P.M., Prokisch, Holger, Katsanis, Nicholas, Wevers, Ron A.
Publicado no Am J Hum Genet (2015)