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Author/Creator Jansen, Erwin E. W.

1. A small molecule inhibitor of mutant IDH2 rescues cardiomyopathy in a D‐2‐hydroxyglutaric aciduria type II mouse model. Issue 6 (28th July 2016)

Authors:
Wang, Fang; Travins, Jeremy; Lin, Zhizhong; Si, Yaguang; Chen, Yue; Powe, Josh; Murray, Stuart; Zhu, Dongwei; Artin, Erin; Gross, Stefan; Santiago, Stephanie; Steadman, Mya; Kernytsky, Andrew; Straley, Kimberly; Lu, Chenming; Pop, Ana; Struys, Eduard A.; Jansen, Erwin E. W.; Salomons, Gajja S.; D...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 39:Issue 6(2016)
Page Start:
807
Record Type:
Journal Article
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2. 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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3. Biallelic variants in the SLC13A1 sulfate transporter gene cause hyposulfatemia with a mild spondylo‐epi‐metaphyseal dysplasia. Issue 1 (3rd October 2022)

Authors:
van de Kamp, Jiddeke M.; Bökenkamp, Arend; Smith, Desiree E. C.; Wamelink, Mirjam M. C.; Jansen, Erwin E. W.; Struys, Eduard A.; Waisfisz, Quinten; Verkleij, Marieke; Hartmann, Michaela F.; Wang, Rong; Wudy, Stefan A.; Paganini, Chiara; Rossi, Antonio; Finken, Martijn J. J.
Journal:
Clinical genetics
Issue:
Volume 103:Issue 1(2023)
Page Start:
45
Record Type:
Journal Article
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4. 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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6. Maternal glutamine supplementation in murine succinic semialdehyde dehydrogenase deficiency, a disorder of γ‐aminobutyric acid metabolism. Issue 5 (29th May 2019)

Authors:
Brown, Madalyn N.; Walters, Dana C.; Schmidt, Michelle A.; Hill, James; McConnell, Alice; Jansen, Erwin E. W.; Salomons, Gajja S.; Arning, Erland; Bottiglieri, Teodoro; Gibson, K. Michael; Roullet, Jean‐Baptiste
Journal:
Journal of inherited metabolic disease
Issue:
Volume 42:Issue 5(2019)
Page Start:
1030
Record Type:
Journal Article
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7. Preclinical tissue distribution and metabolic correlations of vigabatrin, an antiepileptic drug associated with potential use‐limiting visual field defects. Issue 1 (7th January 2019)

Authors:
Walters, Dana C.; Jansen, Erwin E. W.; Ainslie, Garrett R.; Salomons, Gajja S.; Brown, Madalyn N.; Schmidt, Michelle A.; Roullet, Jean‐Baptiste; Gibson, K. M.
Journal:
Pharmacology research & perspectives
Issue:
Volume 7:Issue 1(2019)
Page Start:
n/a
Record Type:
Journal Article
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