High Residual Activity of PMM2 in Patients’ Fibroblasts: Possible Pitfall in the Diagnosis of CDG-Ia (Phosphomannomutase Deficiency)

Por Grünewald, Stephanie, Schollen, Els, Van Schaftingen, Emile, Jaeken, Jaak, Matthijs, Gert
Publicado em 2001

Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation

Por Heywood, Wendy E., Bliss, Emily, Mills, Philippa, Yuzugulen, Jale, Carreno, Gabriela, Clayton, Peter T., Muntoni, Francesco, Worthington, Viki C., Torelli, Silvia, Sebire, Neil J., Mills, Kevin, Grunewald, Stephanie
Publicado no Mol Genet Metab Rep (2016)

Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie

Por Imbach, Timo, Schenk, Barbara, Schollen, Els, Burda, Patricie, Stutz, Andreas, Grünewald, Stephanie, Bailie, Nicola M., King, Mary D., Jaeken, Jaak, Matthijs, Gert, Berger, Eric G., Aebi, Markus, Hennet, Thierry
Publicado em 2000

Paediatric single mitochondrial DNA deletion disorders: an overlapping spectrum of disease

Por Broomfield, Alexander, Sweeney, Mary G., Woodward, Cathy E., Fratter, Carl, Morris, Andrew M., Leonard, James V., Abulhoul, Lara, Grunewald, Stephanie, Clayton, Peter T., Hanna, Michael G., Poulton, Joanna, Rahman, Shamima
Publicado no J Inherit Metab Dis (2014)

An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes

Por Le Quesne Stabej, Polona, James, Chela, Ocaka, Louise, Tekman, Mehmet, Grunewald, Stephanie, Clement, Emma, Stanescu, Horia C., Kleta, Robert, Morrogh, Deborah, Calder, Alistair, Williams, Hywel J., Bitner-Glindzicz, Maria
Publicado no Orphanet J Rare Dis (2017)

Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes

Por Reid, Emma S., Papandreou, Apostolos, Drury, Suzanne, Boustred, Christopher, Yue, Wyatt W., Wedatilake, Yehani, Beesley, Clare, Jacques, Thomas S., Anderson, Glenn, Abulhoul, Lara, Broomfield, Alex, Cleary, Maureen, Grunewald, Stephanie, Varadkar, Sophia M., Lench, Nick, Rahman, Shamima, Gissen, Paul, Clayton, Peter T., Mills, Philippa B.
Publicado no Brain (2016)

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)

Deficiency of Dol-P-Man Synthase Subunit DPM3 Bridges the Congenital Disorders of Glycosylation with the Dystroglycanopathies

Por Lefeber, Dirk J., Schönberger, Johannes, Morava, Eva, Guillard, Mailys, Huyben, Karin M., Verrijp, Kiek, Grafakou, Olga, Evangeliou, Athanasios, Preijers, Frank W., Manta, Panagiota, Yildiz, Jef, Grünewald, Stephanie, Spilioti, Martha, van den Elzen, Christa, Klein, Dominique, Hess, Daniel, Ashida, Hisashi, Hofsteenge, Jan, Maeda, Yusuke, van den Heuvel, Lambert, Lammens, Martin, Lehle, Ludwig, Wevers, Ron A.
Publicado em 2009

Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation

Por Lefeber, Dirk J., de Brouwer, Arjan P. M., Morava, Eva, Riemersma, Moniek, Schuurs-Hoeijmakers, Janneke H. M., Absmanner, Birgit, Verrijp, Kiek, van den Akker, Willem M. R., Huijben, Karin, Steenbergen, Gerry, van Reeuwijk, Jeroen, Jozwiak, Adam, Zucker, Nili, Lorber, Avraham, Lammens, Martin, Knopf, Carlos, van Bokhoven, Hans, Grünewald, Stephanie, Lehle, Ludwig, Kapusta, Livia, Mandel, Hanna, Wevers, Ron A.
Publicado em 2011

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

Por Baumgartner, Matthias R, Hörster, Friederike, Dionisi-Vici, Carlo, Haliloglu, Goknur, Karall, Daniela, Chapman, Kimberly A, Huemer, Martina, Hochuli, Michel, Assoun, Murielle, Ballhausen, Diana, Burlina, Alberto, Fowler, Brian, Grünert, Sarah C, Grünewald, Stephanie, Honzik, Tomas, Merinero, Begoña, Pérez-Cerdá, Celia, Scholl-Bürgi, Sabine, Skovby, Flemming, Wijburg, Frits, MacDonald, Anita, Martinelli, Diego, Sass, Jörn Oliver, Valayannopoulos, Vassili, Chakrapani, Anupam
Publicado em 2014

International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up

Por Welling, Lindsey, Bernstein, Laurie E., Berry, Gerard T., Burlina, Alberto B., Eyskens, François, Gautschi, Matthias, Grünewald, Stephanie, Gubbels, Cynthia S., Knerr, Ina, Labrune, Philippe, van der Lee, Johanna H., MacDonald, Anita, Murphy, Elaine, Portnoi, Pat A., Õunap, Katrin, Potter, Nancy L., Rubio-Gozalbo, M. Estela, Spencer, Jessica B., Timmers, Inge, Treacy, Eileen P., Van Calcar, Sandra C., Waisbren, Susan E., Bosch, Annet M.
Publicado no J Inherit Metab Dis (2016)

Expanding the phenotype in argininosuccinic aciduria: need for new therapies

Por Baruteau, Julien, Jameson, Elisabeth, Morris, Andrew A., Chakrapani, Anupam, Santra, Saikat, Vijay, Suresh, Kocadag, Huriye, Beesley, Clare E., Grunewald, Stephanie, Murphy, Elaine, Cleary, Maureen, Mundy, Helen, Abulhoul, Lara, Broomfield, Alexander, Lachmann, Robin, Rahman, Yusof, Robinson, Peter H., MacPherson, Lesley, Foster, Katharine, Chong, W. Kling, Ridout, Deborah A., Bounford, Kirsten McKay, Waddington, Simon N., Mills, Philippa B., Gissen, Paul, Davison, James E.
Publicado no J Inherit Metab Dis (2017)