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Author/Creator Van Hove, Johan L.K.

1. Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy. (6th December 2022)

Authors:
Coughlin, Curtis R.; Tseng, Laura A.; Bok, Levinus A.; Hartmann, Hans; Footitt, Emma; Striano, Pasquale; Tabarki, Brahim M.; Lunsing, Roelineke J.; Stockler-Ipsiroglu, Sylvia; Gordon, Shanlea; Van Hove, Johan L.K.; Abdenur, Jose E.; Boyer, Monica; Longo, Nicola; Andrews, Ashley; Janssen, Mirian C...
Journal:
Neurology
Issue:
Volume 99:Number 23(2022)
Page Start:
e2627
Record Type:
Journal Article
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2. Brain imaging in classic nonketotic hyperglycinemia: Quantitative analysis and relation to phenotype. Issue 3 (20th March 2019)

Authors:
Stence, Nicholas V.; Fenton, Laura Z.; Levek, Claire; Tong, Suhong; Coughlin, Curtis R.; Hennermann, Julia B.; Wortmann, Saskia B.; Van Hove, Johan L.K.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 42:Issue 3(2019)
Page Start:
438
Record Type:
Journal Article
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3. Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency. Issue 1 (1st December 2020)

Authors:
Coughlin, Curtis R.; Tseng, Laura A.; Abdenur, Jose E.; Ashmore, Catherine; Boemer, François; Bok, Levinus A.; Boyer, Monica; Buhas, Daniela; Clayton, Peter T.; Das, Anibh; Dekker, Hanka; Evangeliou, Athanasios; Feillet, François; Footitt, Emma J.; Gospe, Sidney M.; Hartmann, Hans; Kara, Majdi; K...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 44:Issue 1(2021)
Page Start:
178
Record Type:
Journal Article
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4. Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment. Issue 2 (21st October 2021)

Authors:
Kripps, Kimberly A.; Sremba, Leighann; Larson, Austin A.; Van Hove, Johan L.K.; Nguyen, Hoanh; Wright, Erica L.; Mirsky, David M.; Watkins, David; Rosenblatt, David S.; Ketteridge, David; Berry, Susan A.; McCandless, Shawn E.; Baker, Peter R.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 45:Issue 2(2022)
Page Start:
157
Record Type:
Journal Article
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5. Mitochondrial diseases in North America: An analysis of the NAMDC Registry. (April 2020)

Authors:
Barca, Emanuele; Long, Yuelin; Cooley, Victoria; Schoenaker, Robert; Emmanuele, Valentina; DiMauro, Salvatore; Cohen, Bruce H.; Karaa, Amel; Vladutiu, Georgirene D.; Haas, Richard; Van Hove, Johan L.K.; Scaglia, Fernando; Parikh, Sumit; Bedoyan, Jirair K.; DeBrosse, Susanne D.; Gavrilova, Ralitza...
Journal:
Neurology
Issue:
Volume 6:Number 2(2020)
Page Start:
Record Type:
Journal Article
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6. Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease. Issue 6 (20th March 2017)

Authors:
Bravo‐Alonso, Irene; Navarrete, Rosa; Arribas‐Carreira, Laura; Perona, Almudena; Abia, David; Couce, María Luz; García‐Cazorla, Angels; Morais, Ana; Domingo, Rosario; Ramos, María Antonia; Swanson, Michael A.; Van Hove, Johan L.K.; Ugarte, Magdalena; Pérez, Belén; Pérez‐Cerdá, Celia; Rodríguez‐Po...
Journal:
Human mutation
Issue:
Volume 38:Issue 6(2017)
Page Start:
678
Record Type:
Journal Article
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