MPS I : early diagnosis, bone disease and treatment, where are we now?

Source
Journal of inherited metabolic disease - ISSN 0141-8955- (2021) p.
Author(s)

Neurodevelopmental outcomes of very preterm and very-low-birthweight infants in a population-based clinical cohort with a definite perinatal treatment policy

Source
European journal of paediatric neurology - ISSN 1090-3798-28 (2020) p. 133-141
Author(s)
    Aurelie Pascal, Gunnar Naulaers, Els Ortibus, Ann Oostra, Kris De Coen, Sonnaert Michel, Eva Cloet, Alexandra Casaer, James D'haese, Sabine Laroche, An Jonckheere, Katleen Plaskie, Christine Van Mol, Gwenda Delanghe, Els Bruneel, Marie-Rose Van Hoestenberghe, Bieke Samijn, Paul Govaert, Christine Van den Broeck

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency : is riboflavin supplementation effective?

Source
Orphanet journal of rare diseases - ISSN 1750-1172-13 (2018) p.
Author(s)
    Birgit M. Repp, Elisa Mastantuono, Charlotte L. Alston, Manuel Schiff, Tobias B. Haack, Agnes Rotig, Anna Ardissone, Anne Lombes, Claudia B. Catarino, Daria Diodato, Gudrun Schottmann, Joanna Poulton, Alberto Burlina, An Jonckheere, Arnold Munnich, Boris Rolinski, Daniele Ghezzi, Dariusz Rokicki, Diana Wellesley, Diego Martinelli, Ding Wenhong, Eleonora Lamantea, Elsebet Ostergaard, Ewa Pronicka, Germaine Pierre, Hubert J. M. Smeets, Ilka Wittig, Ingrid Scurr, Irenaeus F. M. de Coo, Isabella Moroni, Joel Smet, Johannes A. Mayr, Lifang Dai, Linda de Meirleir, Markus Schuelke, Massimo Zeviani, Raphael J. Morscher, Robert McFarland, Sara Seneca, Thomas Klopstock, Thomas Meitinger, Thomas Wieland, Tim M. Strom, Ulrike Herberg, Uwe Ahting, Wolfgang Sperl, Marie-Cecile Nassogne, Han Ling, Fang Fang, Saskia Wortmann