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Author/Creator Van Hove, Johan L. K.

1. A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families. Issue 5 (11th July 2022)

Authors:
Ganapathi, Mythily; Friocourt, Gaelle; Gueguen, Naig; Friederich, Marisa W.; Le Gac, Gerald; Okur, Volkan; Loaëc, Nadège; Ludwig, Thomas; Ka, Chandran; Tanji, Kurenai; Marcorelles, Pascale; Theodorou, Evangelos; Lignelli‐Dipple, Angela; Voisset, Cécile; Walker, Melissa A.; Briere, Lauren C.; Bour...
Other Names:
Bhattacharya Kaustuv guestEditor.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 45:Issue 5(2022)
Page Start:
996
Record Type:
Journal Article
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2. Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia. Issue 4 (10th August 2015)

Authors:
Swanson, Michael A.; Coughlin, Curtis R.; Scharer, Gunter H.; Szerlong, Heather J.; Bjoraker, Kendra J.; Spector, Elaine B.; Creadon‐Swindell, Geralyn; Mahieu, Vincent; Matthijs, Gert; Hennermann, Julia B.; Applegarth, Derek A.; Toone, Jennifer R.; Tong, Suhong; Williams, Kristina; Van Hove, Joha...
Journal:
Annals of neurology
Issue:
Volume 78:Issue 4(2015:Oct.)
Page Start:
606
Record Type:
Journal Article
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3. Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine β‐synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial. Issue 3 (11th April 2019)

Authors:
Van Hove, Johan L. K.; Freehauf, Cynthia L.; Ficicioglu, Can; Pena, Loren D. M.; Moreau, Kerrie L.; Henthorn, Thomas K.; Christians, Uwe; Jiang, Hua; Cowan, Tina M.; Young, Sarah P.; Hite, Michelle; Friederich, Marisa W.; Stabler, Sally P.; Spector, Elaine B.; Kronquist, Kathryn E.; Thomas, Janet...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 42:Issue 3(2019)
Page Start:
424
Record Type:
Journal Article
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4. Cerebrospinal fluid amino acids glycine, serine, and threonine in nonketotic hyperglycinemia. Issue 4 (6th April 2022)

Authors:
Swanson, Michael A.; Miller, Kristen; Young, Sarah P.; Tong, Suhong; Ghaloul‐Gonzalez, Lina; Neira‐Fresneda, Juanita; Schlichting, Lisa; Peck, Cheryl; Gabel, Linda; Friederich, Marisa W.; Van Hove, Johan L. K.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 45:Issue 4(2022)
Page Start:
734
Record Type:
Journal Article
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6. Enantiomer‐specific pharmacokinetics of D, L‐3‐hydroxybutyrate: Implications for the treatment of multiple acyl‐CoA dehydrogenase deficiency. Issue 4 (15th February 2021)

Authors:
van Rijt, Willemijn J.; Van Hove, Johan L. K.; Vaz, Frédéric M.; Havinga, Rick; Allersma, Derk P.; Zijp, Tanja R.; Bedoyan, Jirair K.; Heiner‐Fokkema, M. R.; Reijngoud, Dirk‐Jan; Geraghty, Michael T.; Wanders, Ronald J. A.; Oosterveer, Maaike H.; Derks, Terry G. J.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 44:Issue 4(2021)
Page Start:
926
Record Type:
Journal Article
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7. Expanding the phenotypic and molecular spectrum of NFS1‐related disorders that cause functional deficiencies in mitochondrial and cytosolic iron–sulfur cluster containing enzymes. Issue 3 (19th January 2022)

Authors:
Yang, Jennifer H.; Friederich, Marisa W.; Ellsworth, Katarzyna A.; Frederick, Aliya; Foreman, Emily; Malicki, Denise; Dimmock, David; Lenberg, Jerica; Prasad, Chitra; Yu, Andrea C.; Anthony Rupar, C.; Hegele, Robert A.; Manickam, Kandamurugu; Koboldt, Daniel C.; Crist, Erin; Choi, Samantha S.; Fa...
Journal:
Human mutation
Issue:
Volume 43:Issue 3(2022)
Page Start:
305
Record Type:
Journal Article
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8. Identification of a novel biomarker for pyridoxine‐dependent epilepsy: Implications for newborn screening. Issue 3 (11th March 2019)

Authors:
Wempe, Michael F.; Kumar, Amit; Kumar, Vijay; Choi, Yu J.; Swanson, Michael A.; Friederich, Marisa W.; Hyland, Keith; Yue, Wyatt W.; Van Hove, Johan L. K.; Coughlin, Curtis R.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 42:Issue 3(2019)
Page Start:
565
Record Type:
Journal Article
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