Monocarboxylate Transporter 1 Deficiency and Ketone Utilization von van Hasselt, Peter M, Ferdinandusse, Sacha, Monroe, Glen R, Ruiter, Jos P.N, Turkenburg, Marjolein, Geerlings, Maartje J, Duran, Karen, Harakalova, Magdalena, van der Zwaag, Bert, Monavari, Ardeshir A, Okur, Ilyas, Sharrard, Mark J, Cleary, Maureen, O’Connell, Nuala, Walker, Valerie, Rubio-Gozalbo, M. Estela, de Vries, Maaike C, Visser, Gepke, Houwen, Roderick H.J, van der Smagt, Jasper J, Verhoeven-Duif, Nanda M, Wanders, Ronald J.A, van Haaften, Gijs

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Post‐Treatment Movement Disorder in a Child with Late‐onset Cobalamin Deficiency von Fadilah, Ala, Baxter, Peter S., Sarrigiannis, Ptolemaios G., Sengupta, Soma, Sharrard, Mark J., Mordekar, Santosh R.

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Unilateral periventricular leukomalacia in association with pyruvate dehydrogenase deficiency von SHARMA, RUCHI, SHARRARD, MARK J, CONNOLLY, DANIEL J, MORDEKAR, SANTOSH R

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Magnetic resonance spectroscopy changes following haemopoietic stem cell transplantation in children with cerebral adrenoleukodystrophy von Warren, Daniel J, Connolly, Daniel JA, Wilkinson, Iain D, Sharrard, Mark J, Griffiths, Paul D

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Treating rare inborn errors of metabolism von Pollitt, Rodney J, Sharrard, Mark J

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Riboflavin-Responsive Trimethylaminuria in a Patient with Homocystinuria on Betaine Therapy von Manning, Nigel J., Allen, Elizabeth K., Kirk, Richard J., Sharrard, Mark J., Smith, Edwin J.

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Post-Treatment Movement Disorder in a Child with Late-onset Cobalamin Deficiency von Fadilah, Ala, Baxter, Peter S, Sarrigiannis, Ptolemaios G, Sengupta, Soma, Sharrard, Mark J, Mordekar, Santosh R

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Unilateral periventricular leukomalacia in association with pyruvate dehydrogenase deficiency von SHARMA, RUCHI, SHARRARD, MARK J, CONNOLLY, DANIEL J, MORDEKAR, SANTOSH R

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Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants von Vogel, Georg F., Mozer-Glassberg, Yael, Landau, Yuval E., Schlieben, Lea D., Prokisch, Holger, Feichtinger, René G., Mayr, Johannes A., Brennenstuhl, Heiko, Schröter, Julian, Pechlaner, Agnes, Alkuraya, Fowzan S., Baker, Joshua J., Barcia, Giulia, Baric, Ivo, Braverman, Nancy, Burnyte, Birute, Christodoulou, John, Ciara, Elzbieta, Coman, David, Das, Anibh M., Darin, Niklas, Della Marina, Adela, Distelmaier, Felix, Eklund, Erik A., Ersoy, Melike, Fang, Weiyan, Gaignard, Pauline, Ganetzky, Rebecca D., Gonzales, Emmanuel, Howard, Caoimhe, Hughes, Joanne, Konstantopoulou, Vassiliki, Kose, Melis, Kerr, Marina, Khan, Aneal, Lenz, Dominic, McFarland, Robert, Margolis, Merav Gil, Morrison, Kevin, Müller, Thomas, Murayama, Kei, Nicastro, Emanuele, Pennisi, Alessandra, Peters, Heidi, Piekutowska-Abramczuk, Dorota, Rötig, Agnès, Santer, René, Scaglia, Fernando, Schiff, Manuel, Shagrani, Mohmmad, Sharrard, Mark, Soler-Alfonso, Claudia, Staufner, Christian, Storey, Imogen, Stormon, Michael, Taylor, Robert W., Thorburn, David R., Teles, Elisa Leao, Wang, Jian-She, Weghuber, Daniel, Wortmann, Saskia

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Phosphoserine Aminotransferase Deficiency: A Novel Disorder of the Serine Biosynthesis Pathway von Hart, Claire E., Race, Valerie, Achouri, Younes, Wiame, Elsa, Sharrard, Mark, Olpin, Simon E., Watkinson, Jennifer, Bonham, James R., Jaeken, Jaak, Matthijs, Gert, Van Schaftingen, Emile

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cPMP rescue of a neonate with severe molybdenum cofactor deficiency after serendipitous early diagnosis, and characterisation of a novel MOCS1 variant von Schwahn, Bernd C., Hart, Claire, Smith, Louisa Ann, Hart, Anthony, Fairbanks, Lynette, Arenas-Hernandez, Monica, Turner, Charles, Horman, Alistair, Rust, Stewart, Santamaria-Araujo, José A., Mayr, Simon J., Schwarz, Günter, Sharrard, Mark

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Retrospective Review of Positive Newborn Screening Results for Isovaleric Acidemia and Development of a Strategy to Improve the Efficacy of Newborn Screening in the UK von Carling, Rachel S, Hedgethorne, Katy, Chakrapani, Anupam, Hall, Patricia L, Flynn, Nick, Greenfield, Toby, Moat, Stuart J, Ssali, Joshua, Shakespeare, Lynette, Taj, Nazia, Wu, Teresa H Y, Anderson, Mark, Ghosh, Arunabha, Lemonde, Hugh, Pierre, Germaine, Sharrard, Mark, Sreekantam, Sreevidya, Bonham, James R

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The use of MR imaging and spectroscopy of the brain in children investigated for developmental delay: What is the most appropriate imaging strategy? von Griffiths, Paul D., Batty, Ruth, Warren, Daniel, Hart, Anthony, Sharrard, Mark, Mordekar, Santosh R., Raghavan, Ashok, Connolly, Daniel J. A.

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Massive subdural haematomas in Menkes disease mimicking shaken baby syndrome von NASSOGNE, Marie-Cécile, SHARRARD, Mark, HERTZ-PANNIER, Lucie, ARMENGAUD, Didier, TOUATI, Guy, DELONLAY-DEBENEY, Pascale, ZERAH, Michel, BRUNELLE, Francis, SAUDUBRAY, Jean-Marie

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Screening for medium chain acyl-CoA dehydrogenase deficiency has still not been evaluated von Tanner, Stuart, Sharrard, Mark, Cleary, Maureen, Walter, John, Wraith, Ed, Lee, Philip, Leonard, James, Morris, Andrew, McIntosh, Neil

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Retrospective Review of Positive Newborn Screening Results for Isovaleric Acidemia and Development of a Strategy to Improve the Efficacy of Newborn Screening in the UK von Carling, Rachel S, Hedgethorne, Katy, Chakrapani, Anupam, Hall, Patricia L, Flynn, Nick, Greenfield, Toby, Moat, Stuart J, Ssali, Joshua, Shakespeare, Lynette, Taj, Nazia, Wu, Teresa HY, Anderson, Mark, Ghosh, Arunabha, Lemonde, Hugh, Pierre, Germaine, Sharrard, Mark, Sreekantam, Sreevidya, Bonham, James R

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