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Author/Creator Lennertz, Pascal

1. An overview of combined D‐2‐ and L‐2‐hydroxyglutaric aciduria: functional analysis of CIC variants. Issue 2 (13th December 2017)

Authors:
Pop, Ana; Williams, Monique; Struys, Eduard A.; Monné, Magnus; Jansen, Erwin E. W.; De Grassi, Anna; Kanhai, Warsha A.; Scarcia, Pasquale; Ojeda, Matilde R. Fernandez; Porcelli, Vito; van Dooren, Silvy J. M.; Lennertz, Pascal; Nota, Benjamin; Abdenur, Jose E.; Coman, David; Das, Anibh Martin; El‐...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 41:Issue 2(2018)
Page Start:
169
Record Type:
Journal Article
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2. Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity. Issue 5 (14th February 2017)

Authors:
Mendes, Marisa I; Smith, Desirée EC; Pop, Ana; Lennertz, Pascal; Fernandez Ojeda, Matilde R; Kanhai, Warsha A; van Dooren, Silvy JM; Anikster, Yair; Barić, Ivo; Boelen, Caroline; Campistol, Jaime; de Boer, Lonneke; Kariminejad, Ariana; Kayserili, Hulya; Roubertie, Agathe; Verbruggen, Krijn T; Via...
Journal:
Human mutation
Issue:
Volume 38:Issue 5(2017)
Page Start:
524
Record Type:
Journal Article
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3. D‐2‐hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants. Issue 7 (13th April 2019)

Authors:
Pop, Ana; Struys, Eduard A.; Jansen, Erwin E. W.; Fernandez, Matilde R.; Kanhai, Warsha A.; van Dooren, Silvy J. M.; Ozturk, Senay; van Oostendorp, Justin; Lennertz, Pascal; Kranendijk, Martijn; van der Knaap, Marjo S.; Gibson, K. Michael; van Schaftingen, Emile; Salomons, Gajja S.
Journal:
Human mutation
Issue:
Volume 40:Issue 7(2019)
Page Start:
975
Record Type:
Journal Article
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