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Author/Creator Pop, Ana

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. Reduced response of Cystathionine Beta‐Synthase (CBS) to S‐Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients. Issue 2 (23rd August 2013)

Authors:
Mendes, Marisa I. S.; Colaço, Henrique G.; Smith, Desirée E. C.; Ramos, Rúben J. J. F.; Pop, Ana; van Dooren, Silvy J. M.; Tavares de Almeida, Isabel; Kluijtmans, Leo A. J.; Janssen, Mirian C. H.; Rivera, Isabel; Salomons, Gajja S.; Leandro, Paula; Blom, Henk J.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 37:Issue 2(2014)
Page Start:
245
Record Type:
Journal Article
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3. Phenotyping GABA transaminase deficiency: a case description and literature review. Issue 5 (4th July 2016)

Authors:
Louro, Pedro; Ramos, Lina; Robalo, Conceição; Cancelinha, Cândida; Dinis, Alexandra; Veiga, Ricardo; Pina, Raquel; Rebelo, Olinda; Pop, Ana; Diogo, Luísa; Salomons, Gajja S.; Garcia, Paula
Journal:
Journal of inherited metabolic disease
Issue:
Volume 39:Issue 5(2016)
Page Start:
743
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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5. 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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8. 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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