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Author Details

Johan L K Van Hove
Section of Clinical Genetics and Metabolism, University of Colorado
1992
147
43
PMIDPaper TitleJournal TitlePublished Year
36190515Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.Hum Mol Genet2023
37628636Interplay of Impaired Cellular Bioenergetics and Autophagy in PMM2-CDG.Genes (Basel)2023
37184518Clinical spectrum and genetic causes of mitochondrial hepatopathy phenotype in children.Hepatol Commun2023
37151360Severe neonatal onset neuroregression with paroxysmal dystonia and apnoea: Expanding the phenotypic and genotypic spectrum of <i>CARS2</i>-related mitochondrial disease.JIMD Rep2023
37268435Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial.Neurology2023
36915141Correction: Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels.Orphanet J Rare Dis2023
36069569Serum biomarkers correlated with liver stiffness assessed in a multicenter study of pediatric cholestatic liver disease.Hepatology2023
34625984Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment.J Inherit Metab Dis2022
35606253Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC).Mol Genet Metab2022
35725853Author Correction: Mitochondrial calcium uniporter stabilization preserves energetic homeostasis during Complex I impairment.Nat Commun2022
35357708Cerebrospinal fluid amino acids glycine, serine, and threonine in nonketotic hyperglycinemia.J Inherit Metab Dis2022
35589699Mitochondrial calcium uniporter stabilization preserves energetic homeostasis during Complex I impairment.Nat Commun2022
36471344Ketogenic diet as a glycine lowering therapy in nonketotic hyperglycinemia and impact on brain glycine levels.Orphanet J Rare Dis2022
36008148Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy.Neurology2022
35026043Expanding the phenotypic and molecular spectrum of NFS1-related disorders that cause functional deficiencies in mitochondrial and cytosolic iron-sulfur cluster containing enzymes.Hum Mutat2022
33314525Successful liver transplantation in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: Case report.Pediatr Transplant2021
33543789Enantiomer-specific pharmacokinetics of D,L-3-hydroxybutyrate: Implications for the treatment of multiple acyl-CoA dehydrogenase deficiency.J Inherit Metab Dis2021
33985889REVIEW: Practical strategies to maintain anabolism by intravenous nutritional management in children with inborn metabolic diseases.Mol Genet Metab2021
34140213Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect.Mol Genet Metab2021
33200442Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.J Inherit Metab Dis2021
31542992Distinguishing Encephaloclastic Lesions Resulting From Primary or Secondary Pyruvate Dehydrogenase Deficiency From Other Neonatal or Infantile Cavitary Brain Lesions.Pediatr Dev Pathol2020
31665995Serial Magnetic Resonance Imaging (MRI) in Pyruvate Dehydrogenase Complex Deficiency.J Child Neurol2020
31917109Pathogenic variants in NUBPL result in failure to assemble the matrix arm of complex I and cause a complex leukoencephalopathy with thalamic involvement.Mol Genet Metab2020
33279411A novel acceptor stem variant in mitochondrial tRNA<sup>Tyr</sup> impairs mitochondrial translation and is associated with a severe phenotype.Mol Genet Metab2020
32577402Improved lactate control with dichloroacetate in a case with severe neonatal lactic acidosis due to MTFMT mitochondrial translation disorder.Mol Genet Metab Rep2020
32601614The North American mitochondrial disease registry.J Transl Genet Genom2020
32931937The mitochondrial DNA variant m.9032T &gt; C in MT-ATP6 encoding p.(Leu169Pro) causes a complex mitochondrial neurological syndrome.Mitochondrion2020
32337332Mitochondrial diseases in North America: An analysis of the NAMDC Registry.Neurol Genet2020
32173240Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).Mol Genet Metab2020
32294159Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor.Blood2020
32160317Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease.J Inherit Metab Dis2020
29307858Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6.Mitochondrion2019
30043187The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.J Inherit Metab Dis2019
31192304Hybrid gel electrophoresis using skin fibroblasts to aid in diagnosing mitochondrial disease.Neurol Genet2019
31128271COL4A1 mutations in two infants with congenital cataracts and porencephaly: an ophthalmologic perspective.J AAPOS2019
30737808Brain imaging in classic nonketotic hyperglycinemia: Quantitative analysis and relation to phenotype.J Inherit Metab Dis2019
30873612Biomarkers 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.J Inherit Metab Dis2019
30663059Identification of a novel biomarker for pyridoxine-dependent epilepsy: Implications for newborn screening.J Inherit Metab Dis2019
29239742Comment on Late-Onset Nonketotic Hyperglycinemia With a Heterozygous Novel Point Mutation of the GLDC Gene.Pediatr Neurol2018
30283131Pathogenic variants in glutamyl-tRNA<sup>Gln</sup> amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder.Nat Commun2018
29637272COQ2 nephropathy: a treatable cause of nephrotic syndrome in children.Pediatr Nephrol2018
29576218Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood.Am J Hum Genet2018
29736632In memoriam.J Inherit Metab Dis2018
29478781Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.Am J Hum Genet2018
29300369Correction: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.Genet Med2018
27362913The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT.Genet Med2017
28462797d-Glyceric aciduria does not cause nonketotic hyperglycinemia: A historic co-occurrence.Mol Genet Metab2017
28363510X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid.Pediatr Neurol2017
28216230Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency.Mitochondrion2017
28244183Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease.Hum Mutat2017
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Collaborators

Marisa W Friederich
University of Colorado School of Medicine, Children's Hospital Colorado
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Gert Matthijs
Center for Human Genetics, KU Leuven and University Hospitals Leuven
Co-authored papers 9
Yuan-Tsong Chen
Co-authored papers 8
Russell P Saneto
4Center for Integrated Brain Research, Seattle Children's Hospital
Co-authored papers 8
Jaak Jaeken
Co-authored papers 7
Richard Haas
University of California
Co-authored papers 7
Mark A Lovell
University of Kentucky
Co-authored papers 6
Gregory M Enns
Lucile Packard Children's Hospital and Stanford University
Co-authored papers 6
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Baylor College of Medicine
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Center for Pediatric Neurosciences, Cleveland Clinic
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Bruce H Cohen
Akron Children's Hospital
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Johannes A Mayr
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Donald H Chace
Medolac Laboratories A Public Benefit Corporation
Co-authored papers 4
Allyn McConkie-Rosell
Duke University School of Medicine and Duke Health System
Co-authored papers 4
Tamim H Shaikh
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Mark A Tarnopolsky
McMaster University Medical Center
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Stephanie Grunewald
Great Ormond Street Hospital for Children NHS Trust
Co-authored papers 4
David Dimmock
Rady Children's Institute for Genomic Medicine
Co-authored papers 4
Ren?? G Feichtinger
Paracelsus Medical University
Co-authored papers 3
Simon Horslen
Co-authored papers 3
Ronald J Sokol
Digestive Health Institute, Children's Hospital Colorado
Co-authored papers 3
Amel Karaa
Massachusetts General Hospital for Children
Co-authored papers 3
Amy Goldstein
Children's Hospital of Philadelphia
Co-authored papers 3
Robert H Squires
University of Pittsburgh School of Medicine, UPMC Children's Hospital of Pittsburgh
Co-authored papers 3
Mary Kay Koenig
The University of Texas McGovern Medical School
Co-authored papers 3
Ada Hamosh
Johns Hopkins University School of Medicine
Co-authored papers 2
Charu Deshpande
Guy's Hospital
Co-authored papers 2
John Christodoulou
University of Melbourne, The Royal Children's Hospital
Co-authored papers 2
Dennis W W Shaw
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Release 1.2