Search Results - "Rooze, S."

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    Deficiency of Subunit 6 of the Conserved Oligomeric Golgi Complex (COG6-CDG): Second Patient, Different Phenotype by Huybrechts, S., De Laet, C., Bontems, P., Rooze, S., Souayah, H., Sznajer, Y., Sturiale, L., Garozzo, D., Matthijs, G., Ferster, A., Jaeken, J., Goyens, P.

    “…We describe a 27-month-old girl with COG6 deficiency. She is the first child of healthy consanguineous Moroccan parents. She presented at birth with dysmorphic…”
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    Book Chapter Journal Article
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    Acquired visual agnosia as an uncommon presentation of epileptic encephalopathy in a 6-year-old boy with CSWS by van Iterson, Loretta, Vrij, Suzanne, Sie, Lilian T.L., Augustijn, Paul B., Rooze, Anne C.S., Jansen, Floor E.

    Published in Epilepsy & behavior reports (01-01-2021)
    “…•Acquired visual agnosia is an underrecognized and rare manifestation of CSWS.•Highly specific spared and affected areas of visual performance may be…”
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    Journal Article
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    Anaphylaxie fatale en pédiatrie by Trajman, D., Doyen, V., Rooze, S., Lefèvre, N., Biarent, D., Corazza, F.

    Published in Revue française d'allergologie (2009) (01-04-2019)
    “…L’anaphylaxie est une cause rare de décès qui peut être difficile à reconnaître. Le but du travail est d’évaluer sa fréquence et sa reconnaissance dans un…”
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    Journal Article
  7. 7

    Acquired visual agnosia as an uncommon presentation of epileptic encephalopathy in a 6-year-old boy with CSWS by van Iterson, Loretta, Vrij, Suzanne, Sie, Lilian T L, Augustijn, Paul B, Rooze, Anne C S, Jansen, Floor E

    Published in Epilepsy & behavior reports (01-01-2021)
    “…BACKGROUNDAcquired visual agnosia in the context of continuous spikes and waves during slow sleep (CSWS) is rarely described. We present a case of an almost…”
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