JohanVan HoveMD

PubMed

• 10 citations
  Enantiomer-specific pharmacokinetics of D,L-3-hydroxybutyrate: Implications for the treatment of multiple acyl-CoA dehydrogenase deficiency.
  Willemijn J. van Rijt, Johan L.K. Van Hove, Frédéric M. Vaz, Rick Havinga, Derk P. Allersma, Tanja R Zijp, Jirair K. Bedoyan, M R Heiner-Fokkema, Dirk-Jan Reijngoud, M...> ;Journal of Inherited Metabolic Disease. 2021 Feb 5
• 33 citations
  Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency
  Curtis R. Coughlin, Laura A. Tseng, Jose E. Abdenur, Catherine Ashmore, François Boemer, Levinus A. Bok, Monica Boyer, Daniela Buhas, Peter E. Clayton, Anibh M. Das, H...> ;Journal of Inherited Metabolic Disease. 2021 Jan 1
• 1 citations
  Successful liver transplantation in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: Case report.
  Pauline De Bruyne, Patrick Verloo, Johan L.K. Van Hove, Bernard de Hemptinne, Saskia Vande Velde, Myriam Van Winckel, Stephanie Van Biervliet, Ruth De Bruyne> ;Pediatric Transplantation. 2021 Sep 1
• 2 citations
  A novel acceptor stem variant in mitochondrial tRNATyr impairs mitochondrial translation and is associated with a severe phenotype.
  Kimberly A. Kripps, Marisa W. Friederich, Ting Chen, Austin Larson, David M. Mirsky, Yue Wang, Kurenai Tanji, Kaz M. Knight, Lee-Jun C. Wong, Johan L.K. Van Hove> ;Molecular Genetics and Metabolism. 2020 Nov 24
• 3 citations
  The mitochondrial DNA variant m.9032T > C in MT-ATP6 encoding p.(Leu169Pro) causes a complex mitochondrial neurological syndrome.
  Kaz M. Knight, Emily Shelkowitz, Austin Larson, David M. Mirsky, Yue Wang, Ting Chen, Lee-Jun C. Wong, Marisa W. Friederich, Johan L.K. Van Hove> ;Mitochondrion. 2020 Sep 12
• 4 citations
  Improved lactate control with dichloroacetate in a case with severe neonatal lactic acidosis due to MTFMT mitochondrial translation disorder.
  Jennifer Bennett, Marina Kerr, Steven C. Greenway, Marisa W. Friederich, Johan L.K. Van Hove, Dustin S. Hittel, Aneal Khan> ;Molecular Genetics and Metabolism Reports. 2020 Jun 15
• 76 citations
  Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor
  Saskia B. Wortmann, Johan L.K. Van Hove, Terry G J Derks, Nathalie Chevalier, Vijaya Knight, Andreas Koller, Esmee Oussoren, Johannes A. Mayr, Francjan J. van Spronsen...> ;Blood. 2020 Aug 27
• 5 citations
  Distinguishing Encephaloclastic Lesions Resulting From Primary or Secondary Pyruvate Dehydrogenase Deficiency From Other Neonatal or Infantile Cavitary Brain Lesions
  Ahmed Gilani, Johan L.K. Van Hove, Janet A. Thomas, Bette K. Kleinschmidt-DeMasters> ;Pediatric and Developmental Pathology. 2020 May 1
• 24 citations
  Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
  Kimberly A. Kripps, Warapan Nakayuenyongsuk, Brian J. Shayota, William E. Berquist, Natalia Gomez-Ospina, Carlos O. Esquivel, Waldo Concepcion, Jacinda B. Sampson, Dav...> ;Molecular Genetics and Metabolism. 2020 Mar 6
• 5 citations
  The North American mitochondrial disease registry.
  Xiomara Q Rosales, John L.P. Thompson, Richard H. Haas, Johan L.K. Van Hove, Amel Karaa, Danuta Krotoski, Kristin Engelstad, Richard Buchsbaum, Salvatore DiMauro, Mich...> ;Journal of Translational Genetics and Genomics. 2020 Apr 28
• 28 citations
  Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease.
  Marisa W. Friederich, Abdallah F. Elias, Alice Kuster, Lucia Laugwitz, Austin Larson, Aaron P. Landry, Logan Ellwood‐Digel, David M. Mirsky, David Dimmock, Jaclyn Have...> ;Journal of Inherited Metabolic Disease. 2020 Mar 11
• 27 citations
  Mitochondrial diseases in North America: An analysis of the NAMDC Registry.
  Emanuele Barca, Yuelin Long, Victoria Cooley, Robert Schoenaker, Valentina Emmanuele, Salvatore DiMauro, Bruce H. Cohen, Amel Karaa, Georgirene D. Vladutiu, Richard Ha...> ;Neurology. Genetics. 2020 Mar 2
• 10 citations
  Pathogenic variants in NUBPL result in failure to assemble the matrix arm of complex I and cause a complex leukoencephalopathy with thalamic involvement.
  Marisa W. Friederich, Francisco A. Perez, Kaz M. Knight, Roxanne A. Van Hove, Samuel P. Yang, Russell P. Saneto, Johan L.K. Van Hove> ;Molecular Genetics and Metabolism. 2020 Mar 1
• 6 citations
  Serial Magnetic Resonance Imaging (MRI) in Pyruvate Dehydrogenase Complex Deficiency.
  Emily Shelkowitz, Can Ficicioglu, Nicholas V. Stence, Johan L.K. Van Hove, Austin Larson> ;Journal of Child Neurology. 2020 Feb 1
• 15 citations
  Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency.
  Willemijn J. van Rijt, Emmalie A. Jager, Derk P. Allersma, A. Çiğdem Aktuğlu Zeybek, Kaustuv Bhattacharya, François-Guillaume Debray, Carolyn Ellaway, Matthias Gautsch...> ;Genetics in Medicine. 2020 Jan 6
• 4 citations
  Hybrid gel electrophoresis using skin fibroblasts to aid in diagnosing mitochondrial disease.
  Christopher Newell, Aneal Khan, David S. Sinasac, John Shoffner, Marisa W. Friederich, Johan L.K. Van Hove, Stacey Hume, Jane Shearer, Iveta Sosova> ;Neurology. Genetics. 2019 May 1
• 6 citations
  COL4A1 mutations in two infants with congenital cataracts and porencephaly: an ophthalmologic perspective
  Shane Nau, Emily A. McCourt, John A Maloney, Johan L.K. Van Hove, Margarita Saenz, Jennifer L. Jung> ;Journal of AAPOS. 2019 May 22
• 9 citations
  Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine β-synthase deficient homocystinuria and the impact of taurine treatme...
  Johan L.K. Van Hove, Cynthia Freehauf, Can Ficicioglu, Loren D.M. Pena, Kerrie L. Moreau, Thomas K. Henthorn, Uwe Christians, Hua Jiang, Tina M. Cowan, Sarah P. Young,...> ;Journal of Inherited Metabolic Disease. 2019 May 1
• The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.
  Coughlin, C. R.,Swanson, M. A.,Spector, E.,Meeks, NJL.,Kronquist, K. E.,Aslamy, M.,Wempe, M. F.,van Karnebeek, CDM.,Gospe, S. M.,Aziz, V. G.,Tsai, B. P.,Gao, H.,Nagy, ...> ;J. Inherit. Metab. Dis.. 2019 Feb 23
• 22 citations
  Brain imaging in classic nonketotic hyperglycinemia: Quantitative analysis and relation to phenotype.
  Nicholas V. Stence, Laura Z. Fenton, Claire Levek, Suhong Tong, Curtis R. Coughlin, Julia B. Hennermann, Saskia B. Wortmann, Johan L.K. Van Hove> ;Journal of Inherited Metabolic Disease. 2019 May 1
• 24 citations
  Identification of a novel biomarker for pyridoxine-dependent epilepsy: Implications for newborn screening.
  Michael F. Wempe, Amit Kumar, Vijay Kumar, Yu J. Choi, Michael A. Swanson, Marisa W. Friederich, Keith Hyland, Wyatt W. Yue, Johan L.K. Van Hove, Curtis R. Coughlin> ;Journal of Inherited Metabolic Disease. 2019 Mar 11
• 39 citations
  The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy
  Curtis R. Coughlin, Michael A. Swanson, Elaine B. Spector, Naomi Meeks, Kathryn E. Kronquist, Mezhgan Aslamy, Michael F. Wempe, Clara D.M. van Karnebeek, Sidney M. Gos...> ;Journal of Inherited Metabolic Disease. 2018 Jul 24
• 24 citations
  COQ2 nephropathy: a treatable cause of nephrotic syndrome in children.
  Michelle C. Starr, Irene J. Chang, Laura S. Finn, Angela Sun, Austin Larson, Jens Goebel, Coral Hanevold, Jenny Thies, Johan L.K. Van Hove, Sangeeta Hingorani, Christi...> ;Pediatric Nephrology. 2018 Apr 10
• 60 citations
  Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood
  F.-Nora Vögtle, Björn Brändl, Austin Larson, Manuela Pendziwiat, Marisa W. Friederich, Susan M. White, Alice Basinger, Cansu Kücükköse, Hiltrud Muhle, Johanna A. Jähn,...> ;American Journal of Human Genetics. 2018 Apr 5
• 53 citations
  Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
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