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

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International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up von Altassan, Ruqaiah, Péanne, Romain, Jaeken, Jaak, Barone, Rita, Bidet, Muad, Borgel, Delphine, Brasil, Sandra, Cassiman, David, Cechova, Anna, Coman, David, Corral, Javier, Correia, Joana, de la Morena‐Barrio, María Eugenia, de Lonlay, Pascale, Dos Reis, Vanessa, Ferreira, Carlos R, Fiumara, Agata, Francisco, Rita, Freeze, Hudson, Funke, Simone, Gardeitchik, Thatjana, Gert, Matthijs, Girad, Muriel, Giros, Marisa, Grünewald, Stephanie, Hernández‐Caselles, Trinidad, Honzik, Tomas, Hutter, Marlen, Krasnewich, Donna, Lam, Christina, Lee, Joy, Lefeber, Dirk, Marques‐da‐Silva, Dorinda, Martinez, Antonio F, Moravej, Hossein, Õunap, Katrin, Pascoal, Carlota, Pascreau, Tiffany, Patterson, Marc, Quelhas, Dulce, Raymond, Kimiyo, Sarkhail, Peymaneh, Schiff, Manuel, Seroczyńska, Małgorzata, Serrano, Mercedes, Seta, Nathalie, Sykut‐Cegielska, Jolanta, Thiel, Christian, Tort, Federic, Vals, Mari‐Anne, Videira, Paula, Witters, Peter, Zeevaert, Renate, Morava, Eva

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The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia) von Grunewald, Stephanie

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Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyp... von Kiparissi, Fevronia, Dastamani, Antonia, Palm, Liina, Azabdaftari, Aline, Campos, Luis, Gaynor, Edward, Grünewald, Stephanie, Uhlig, Holm H., Kleta, Robert, Böckenhauer, Detlef, Jones, Kelsey D. J.

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Criss-cross gait: A clue to glucose transporter type 1 deficiency syndrome von Magrinelli, Francesca, Mulroy, Eoin, Schneider, Susanne A., Latorre, Anna, Di Lazzaro, Giulia, Hennig, Anita, Grünewald, Stephanie, De Vivo, Darryl C., Bhatia, Kailash P.

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Liver transplantation for neonatal‐onset citrullinemia von Vara, Roshni, Dhawan, Anil, Deheragoda, Maesha, Grünewald, Stephanie, Pierre, Germaine, Heaton, Nigel D, Vilca‐Melendez, Hector, Hadžić, Nedim

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Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation von 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

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

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Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision von Forny, Patrick, Hörster, Friederike, Ballhausen, Diana, Chakrapani, Anupam, Chapman, Kimberly A., Dionisi‐Vici, Carlo, Dixon, Marjorie, Grünert, Sarah C., Grunewald, Stephanie, Haliloglu, Goknur, Hochuli, Michel, Honzik, Tomas, Karall, Daniela, Martinelli, Diego, Molema, Femke, Sass, Jörn Oliver, Scholl‐Bürgi, Sabine, Tal, Galit, Williams, Monique, Huemer, Martina, Baumgartner, Matthias R.

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Galactose epimerase deficiency: lessons from the GalNet registry von Derks, Britt, Demirbas, Didem, Arantes, Rodrigo R., Banford, Samantha, Burlina, Alberto B., Cabrera, Analía, Chiesa, Ana, Couce, M. Luz, Dionisi-Vici, Carlo, Gautschi, Matthias, Grünewald, Stephanie, Morava, Eva, Möslinger, Dorothea, Scholl-Bürgi, Sabine, Skouma, Anastasia, Stepien, Karolina M., Timson, David J., Berry, Gerard T., Rubio-Gozalbo, M. Estela

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Congenital disorders of glycosylation: Rapidly enlarging group of (neuro)metabolic disorders von Grünewald, Stephanie

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Phosphomannomutase 2 von Kiparissi, Fevronia, Dastamani, Antonia, Palm, Liina, Azabdaftari, Aline, Campos, Luis, Gaynor, Edward, Grünewald, Stephanie

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Congenital Disorders of Glycosylation from a Neurological Perspective von Paprocka, Justyna, Jezela-Stanek, Aleksandra, Tylki-Szymanska, Anna, Grunewald, Stephanie

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Inborn errors of metabolism leading to neuronal migration defects von Schiller, Stina, Rosewich, Hendrik, Grünewald, Stephanie, Gärtner, Jutta

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Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency von Arribas-Carreira, Laura, Dallabona, Cristina, Swanson, Michael A, Farris, Joseph, Østergaard, Elsebet, Tsiakas, Konstantinos, Hempel, Maja, Aquaviva-Bourdain, Cecile, Koutsoukos, Stefanos, Stence, Nicholas V, Magistrati, Martina, Spector, Elaine B, Kronquist, Kathryn, Christensen, Mette, Karstensen, Helena G, Feichtinger, René G, Achleitner, Melanie T, Lawrence Merritt II, J, Pérez, Belén, Ugarte, Magdalena, Grünewald, Stephanie, Riela, Anthony R, Julve, Natalia, Arnoux, Jean-Baptiste, Haldar, Kasturi, Donnini, Claudia, Santer, René, Lund, Allan M, Mayr, Johannes A, Rodriguez-Pombo, Pilar, Van Hove, Johan L K

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Patients with unsolved congenital disorders of glycosylation type II can be subdivided in six distinct biochemical groups von Wopereis, Suzan, Morava, Éva, Grůnewald, Stephanie, Adamowicz, Maciej, Huijben, Karin M. L. C, Lefeber, Dirk J, Wevers, Ron A

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Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia von Kuiper, Anouk, Grünewald, Stephanie, Murphy, Elaine, Coenen, Maraike A., Eggink, Hendriekje, Zutt, Rodi, Rubio‐Gozalbo, Maria E., Bosch, Annet M., Williams, Monique, Derks, Terry G. J., Lachmann, Robin H. L., Brouwers, Martijn C. G. J., Janssen, Mirian C. H., Tijssen, Marina A., de Koning, Tom J.

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Transferrin and Apolipoprotein C-III Isofocusing Are Complementary in the Diagnosis of N- and O-Glycan Biosynthesis Defects von Wopereis, Suzan, Grunewald, Stephanie, Huijben, Karin M.L.C, Morava, Eva, Mollicone, Rosella, van Engelen, Baziel G.M, Lefeber, Dirk J, Wevers, Ron A

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SRD5A3-CDG: Emerging Phenotypic Features of an Ultrarare CDG Subtype von Kamarus Jaman, Nazreen, Rehsi, Preeya, Henderson, Robert H., Loebel, Ulrike, Mankad, Kshitij, Grunewald, Stephanie

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Apolipoprotein C-III Isofocusing in the Diagnosis of Genetic Defects in O-Glycan Biosynthesis von Wopereis, Suzan, Grunewald, Stephanie, Morava, Eva, Penzien, Johannes M, Briones, Paz, Garcia-Silva, M. Teresa, Demacker, Pierre N.M, Huijben, Karin M.L.C, Wevers, Ron A

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