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Johan Lodewijk Van Hove

TitleProfessor
InstitutionUniversity of Colorado Denver - Anschutz Medical Campus
DepartmentSOM-PEDS
Phone303/724-2365

    Collapse Research 
    Collapse research activities and funding
    R01FD003907     (VAN HOVE, JOHAN L)Sep 16, 2013 - Jun 30, 2016
    NIH
    Phase 1/2 of Taurine in Cystathionine Beta-Synthase Deficient Homocystinuria
    Role: Principal Investigator

    Collapse Bibliographic 
    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Van Hove JLK, Friederich MW, Strode DK, Van Hove RA, Miller KR, Sharma R, Shah H, Estrella J, Gabel L, Horslen S, Kohli R, Lovell MA, Miethke AG, Molleston JP, Romero R, Squires JE, Alonso EM, Guthery SL, Kamath BM, Loomes KM, Rosenthal P, Mysore KR, Cavallo LA, Valentino PL, Magee JC, Sundaram SS, Sokol RJ. Protein biomarkers GDF15 and FGF21 to differentiate mitochondrial hepatopathies from other pediatric liver diseases. Hepatol Commun. 2024 Jan 01; 8(1). PMID: 38180987.
      View in: PubMed
    2. Karaa A, Bertini E, Carelli V, Cohen BH, Enns GM, Falk MJ, Goldstein A, Gorman GS, Haas R, Hirano M, Klopstock T, Koenig MK, Kornblum C, Lamperti C, Lehman A, Longo N, Molnar MJ, Parikh S, Phan H, Pitceathly RDS, Saneto R, Scaglia F, Servidei S, Tarnopolsky M, Toscano A, Van Hove JLK, Vissing J, Vockley J, Finman JS, Brown DA, Shiffer JA, Mancuso M. Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial. Neurology. 2023 07 18; 101(3):e238-e252. PMID: 37268435.
      View in: PubMed
    3. Coughlin CR, Tseng LA, Bok LA, Hartmann H, Footitt E, Striano P, Tabarki BM, Lunsing RJ, Stockler-Ipsiroglu S, Gordon S, Van Hove JLK, Abdenur JE, Boyer M, Longo N, Andrews A, Janssen MCH, van Wegberg A, Prasad C, Prasad AN, Lamb MM, Wijburg FA, Gospe SM, van Karnebeek C. Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy. Neurology. 2022 Dec 05; 99(23):e2627-e2636. PMID: 36008148.
      View in: PubMed
    4. Friederich MW, Geddes GC, Wortmann SB, Punnoose A, Wartchow E, Knight KM, Prokisch H, Creadon-Swindell G, Mayr JA, Van Hove JLK. Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect. Mol Genet Metab. 2021 08; 133(4):362-371. PMID: 34140213.
      View in: PubMed
    5. Kripps K, Nakayuenyongsuk W, Shayota BJ, Berquist W, Gomez-Ospina N, Esquivel CO, Concepcion W, Sampson JB, Cristin DJ, Jackson WE, Gilliland S, Pomfret EA, Kueht ML, Pettit RW, Sherif YA, Emrick LT, Elsea SH, Himes R, Hirano M, Van Hove JLK, Scaglia F, Enns GM, Larson AA. Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). Mol Genet Metab. 2020 05; 130(1):58-64. PMID: 32173240.
      View in: PubMed
    6. Barca E, Long Y, Cooley V, Schoenaker R, Emmanuele V, DiMauro S, Cohen BH, Karaa A, Vladutiu GD, Haas R, Van Hove JLK, Scaglia F, Parikh S, Bedoyan JK, DeBrosse SD, Gavrilova RH, Saneto RP, Enns GM, Stacpoole PW, Ganesh J, Larson A, Zolkipli-Cunningham Z, Falk MJ, Goldstein AC, Tarnopolsky M, Gropman A, Camp K, Krotoski D, Engelstad K, Rosales XQ, Kriger J, Grier J, Buchsbaum R, Thompson JLP, Hirano M. Mitochondrial diseases in North America: An analysis of the NAMDC Registry. Neurol Genet. 2020 Apr; 6(2):e402. PMID: 32337332.
      View in: PubMed
    7. Friederich MW, Perez FA, Knight KM, Van Hove RA, Yang SP, Saneto RP, Van Hove JLK. Pathogenic variants in NUBPL result in failure to assemble the matrix arm of complex I and cause a complex leukoencephalopathy with thalamic involvement. Mol Genet Metab. 2020 03; 129(3):236-242. PMID: 31917109.
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    8. Nau S, McCourt EA, Maloney JA, Van Hove JL, Saenz M, Jung JL. COL4A1 mutations in two infants with congenital cataracts and porencephaly: an ophthalmologic perspective. J AAPOS. 2019 08; 23(4):246-248. PMID: 31128271.
      View in: PubMed
    9. Stence NV, Fenton LZ, Levek C, Tong S, Coughlin CR, Hennermann JB, Wortmann SB, Van Hove JLK. Brain imaging in classic nonketotic hyperglycinemia: Quantitative analysis and relation to phenotype. J Inherit Metab Dis. 2019 05; 42(3):438-450. PMID: 30737808.
      View in: PubMed
    10. Coughlin CR, Swanson MA, Spector E, Meeks NJL, Kronquist KE, Aslamy M, Wempe MF, van Karnebeek CDM, Gospe SM, Aziz VG, Tsai BP, Gao H, Nagy PL, Hyland K, van Dooren SJM, Salomons GS, Van Hove JLK. The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy. J Inherit Metab Dis. 2019 03; 42(2):353-361. PMID: 30043187.
      View in: PubMed
    11. Coughlin CR, Swanson MA, Kronquist K, Acquaviva C, Hutchin T, Rodr?guez-Pombo P, V?is?nen ML, Spector E, Creadon-Swindell G, Br?s-Goldberg AM, Rahikkala E, Moilanen JS, Mahieu V, Matthijs G, Bravo-Alonso I, P?rez-Cerd? C, Ugarte M, Vianey-Saban C, Scharer GH, Van Hove JLK. Correction: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT. Genet Med. 2018 09; 20(9):1098. PMID: 29300369.
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    12. Van Hove JLK, Thomas JA, Baker PR, Larson AA. In memoriam. J Inherit Metab Dis. 2018 May 07. PMID: 29736632.
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    13. Coughlin CR, Swanson MA, Spector EB, Kronquist KE, Van Hove JLK. Comment on Late-Onset Nonketotic Hyperglycinemia With a Heterozygous Novel Point Mutation of the GLDC Gene. Pediatr Neurol. 2018 02; 79:e1. PMID: 29239742.
      View in: PubMed
    14. Coughlin CR, Swanson MA, Kronquist K, Acquaviva C, Hutchin T, Rodr?guez-Pombo P, V?is?nen ML, Spector E, Creadon-Swindell G, Br?s-Goldberg AM, Rahikkala E, Moilanen JS, Mahieu V, Matthijs G, Bravo-Alonso I, P?rez-Cerd? C, Ugarte M, Vianey-Saban C, Scharer GH, Van Hove JL. The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT. Genet Med. 2017 01; 19(1):104-111. PMID: 27362913.
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    15. Swanson MA, Coughlin CR, Scharer GH, Szerlong HJ, Bjoraker KJ, Spector EB, Creadon-Swindell G, Mahieu V, Matthijs G, Hennermann JB, Applegarth DA, Toone JR, Tong S, Williams K, Van Hove JL. Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia. Ann Neurol. 2015 Oct; 78(4):606-18. PMID: 26179960.
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    16. Ferdinandusse S, Friederich MW, Burlina A, Ruiter JP, Coughlin CR, Dishop MK, Gallagher RC, Bedoyan JK, Vaz FM, Waterham HR, Gowan K, Chatfield K, Bloom K, Bennett MJ, Elpeleg O, Van Hove JL, Wanders RJ. Clinical and biochemical characterization of four patients with mutations in ECHS1. Orphanet J Rare Dis. 2015 Jun 18; 10:79. PMID: 26081110.
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    17. Coughlin CR, van Karnebeek CD, Al-Hertani W, Shuen AY, Jaggumantri S, Jack RM, Gaughan S, Burns C, Mirsky DM, Gallagher RC, Van Hove JL. Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome. Mol Genet Metab. 2015 Sep-Oct; 116(1-2):35-43. PMID: 26026794.
      View in: PubMed
    18. Coughlin CR, Scharer GH, Friederich MW, Yu HC, Geiger EA, Creadon-Swindell G, Collins AE, Vanlander AV, Coster RV, Powell CA, Swanson MA, Minczuk M, Van Hove JL, Shaikh TH. Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder. J Med Genet. 2015 Aug; 52(8):532-40. PMID: 25787132.
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    19. Vanderver A, Prust M, Tonduti D, Mochel F, Hussey HM, Helman G, Garbern J, Eichler F, Labauge P, Aubourg P, Rodriguez D, Patterson MC, Van Hove JL, Schmidt J, Wolf NI, Boespflug-Tanguy O, Schiffmann R, van der Knaap MS. Case definition and classification of leukodystrophies and leukoencephalopathies. Mol Genet Metab. 2015 Apr; 114(4):494-500. PMID: 25649058.
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    20. Chatfield KC, Coughlin CR, Friederich MW, Gallagher RC, Hesselberth JR, Lovell MA, Ofman R, Swanson MA, Thomas JA, Wanders RJ, Wartchow EP, Van Hove JL. Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing. Mitochondrion. 2015 Mar; 21:1-10. PMID: 25575635.
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    21. Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R, Anselm I, Cohen BH, Falk MJ, Greene C, Gropman AL, Haas R, Hirano M, Morgan P, Sims K, Tarnopolsky M, Van Hove JL, Wolfe L, DiMauro S. Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. Genet Med. 2015 Sep; 17(9):689-701. PMID: 25503498.
      View in: PubMed
    22. Baker PR, Friederich MW, Swanson MA, Shaikh T, Bhattacharya K, Scharer GH, Aicher J, Creadon-Swindell G, Geiger E, MacLean KN, Lee WT, Deshpande C, Freckmann ML, Shih LY, Wasserstein M, Rasmussen MB, Lund AM, Procopis P, Cameron JM, Robinson BH, Brown GK, Brown RM, Compton AG, Dieckmann CL, Collard R, Coughlin CR, Spector E, Wempe MF, Van Hove JL. Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5. Brain. 2014 Feb; 137(Pt 2):366-79. PMID: 24334290.
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    23. Wray CD, Friederich MW, du Sart D, Pantaleo S, Smet J, Kucera C, Fenton L, Scharer G, Van Coster R, Van Hove JL. A new mutation in MT-ND1 m.3928G>C p.V208L causes Leigh disease with infantile spasms. Mitochondrion. 2013 Nov; 13(6):656-61. PMID: 24063851.
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    24. Yu HC, Sloan JL, Scharer G, Brebner A, Quintana AM, Achilly NP, Manoli I, Coughlin CR, Geiger EA, Schneck U, Watkins D, Suormala T, Van Hove JL, Fowler B, Baumgartner MR, Rosenblatt DS, Venditti CP, Shaikh TH. An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1. Am J Hum Genet. 2013 Sep 05; 93(3):506-14. PMID: 24011988.
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    25. Molleston JP, Sokol RJ, Karnsakul W, Miethke A, Horslen S, Magee JC, Romero R, Squires RH, Van Hove JL. Evaluation of the child with suspected mitochondrial liver disease. J Pediatr Gastroenterol Nutr. 2013 Sep; 57(3):269-76. PMID: 23783016.
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    26. Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R, Anselm I, Collins A, Cohen BH, DeBrosse SD, Dimmock D, Falk MJ, Ganesh J, Greene C, Gropman AL, Haas R, Kahler SG, Kamholz J, Kendall F, Korson MS, Mattman A, Milone M, Niyazov D, Pearl PL, Reimschisel T, Salvarinova-Zivkovic R, Sims K, Tarnopolsky M, Tsao CY, van Hove J, Walsh L, Wolfe LA. Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challenges. Mitochondrion. 2014 Jan; 14(1):26-33. PMID: 23891656.
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    27. De Paepe B, Vandemeulebroecke K, Smet J, Vanlander A, Seneca S, Lissens W, Van Hove JL, Deschepper E, Briones P, Van Coster R. Effect of resveratrol on cultured skin fibroblasts from patients with oxidative phosphorylation defects. Phytother Res. 2014 Feb; 28(2):312-6. PMID: 23620374.
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    28. van Karnebeek CD, Hartmann H, Jaggumantri S, Bok LA, Cheng B, Connolly M, Coughlin CR, Das AM, Gospe SM, Jakobs C, van der Lee JH, Mercimek-Mahmutoglu S, Meyer U, Struys E, Sinclair G, Van Hove J, Collet JP, Plecko BR, Stockler S. Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials. Mol Genet Metab. 2012 Nov; 107(3):335-44. PMID: 23022070.
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    29. Hennermann JB, Berger JM, Grieben U, Scharer G, Van Hove JL. Prediction of long-term outcome in glycine encephalopathy: a clinical survey. J Inherit Metab Dis. 2012 Mar; 35(2):253-61. PMID: 22002442.
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    30. Bireley WR, Van Hove JL, Gallagher RC, Fenton LZ. Urea cycle disorders: brain MRI and neurological outcome. Pediatr Radiol. 2012 Apr; 42(4):455-62. PMID: 21989980.
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    31. Van Hove JL, Lohr NJ. Metabolic and monogenic causes of seizures in neonates and young infants. Mol Genet Metab. 2011 Nov; 104(3):214-30. PMID: 21839663.
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    32. Stockler S, Plecko B, Gospe SM, Coulter-Mackie M, Connolly M, van Karnebeek C, Mercimek-Mahmutoglu S, Hartmann H, Scharer G, Struijs E, Tein I, Jakobs C, Clayton P, Van Hove JL. Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up. Mol Genet Metab. 2011 Sep-Oct; 104(1-2):48-60. PMID: 21704546.
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    33. Keating AK, Freehauf C, Jiang H, Brodsky GL, Stabler SP, Allen RH, Graham DK, Thomas JA, Van Hove JL, Maclean KN. Constitutive induction of pro-inflammatory and chemotactic cytokines in cystathionine beta-synthase deficient homocystinuria. Mol Genet Metab. 2011 Aug; 103(4):330-7. PMID: 21601502.
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    34. Kendrick AA, Choudhury M, Rahman SM, McCurdy CE, Friederich M, Van Hove JL, Watson PA, Birdsey N, Bao J, Gius D, Sack MN, Jing E, Kahn CR, Friedman JE, Jonscher KR. Fatty liver is associated with reduced SIRT3 activity and mitochondrial protein hyperacetylation. Biochem J. 2011 Feb 01; 433(3):505-14. PMID: 21044047.
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    35. Wright EL, Van Hove JL, Thomas J. Mountain States Genetics Regional Collaborative Center's Metabolic Newborn Screening Long-term Follow-up Study: a collaborative multi-site approach to newborn screening outcomes research. Genet Med. 2010 Dec; 12(12 Suppl):S228-41. PMID: 21150369.
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    36. Scharer G, Brocker C, Vasiliou V, Creadon-Swindell G, Gallagher RC, Spector E, Van Hove JL. The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1. J Inherit Metab Dis. 2010 Oct; 33(5):571-81. PMID: 20814824.
      View in: PubMed
    37. Van Hove JL, Saenz MS, Thomas JA, Gallagher RC, Lovell MA, Fenton LZ, Shanske S, Myers SM, Wanders RJ, Ruiter J, Turkenburg M, Waterham HR. Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy. Pediatr Res. 2010 Aug; 68(2):159-64. PMID: 20453710.
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    38. Kurt B, Jaeken J, Van Hove J, Lagae L, L?fgren A, Everman DB, Jayakar P, Naini A, Wierenga KJ, Van Goethem G, Copeland WC, DiMauro S. A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes. Arch Neurol. 2010 Feb; 67(2):239-44. PMID: 20142534.
      View in: PubMed
    39. Gallagher RC, Van Hove JL, Scharer G, Hyland K, Plecko B, Waters PJ, Mercimek-Mahmutoglu S, Stockler-Ipsiroglu S, Salomons GS, Rosenberg EH, Struys EA, Jakobs C. Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy. Ann Neurol. 2009 May; 65(5):550-6. PMID: 19142996.
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    40. Van Hove JL, Cunningham V, Rice C, Ringel SP, Zhang Q, Chou PC, Truong CK, Wong LJ. Finding twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease. Am J Med Genet A. 2009 May; 149A(5):861-7. PMID: 19353676.
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    41. Van Hove JL, Myers S, Kerckhove KV, Freehauf C, Bernstein L. Acute nutrition management in the prevention of metabolic illness: a practical approach with glucose polymers. Mol Genet Metab. 2009 May; 97(1):1-3. PMID: 19367873.
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    42. Van Hove JL, Josefsberg S, Freehauf C, Thomas JA, Thuy le P, Barshop BA, Woontner M, Mock DM, Chiang PW, Spector E, Meneses-Morales I, Cervantes-Rold?n R, Le?n-Del-R?o A. Management of a patient with holocarboxylase synthetase deficiency. Mol Genet Metab. 2008 Dec; 95(4):201-5. PMID: 18974016.
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    43. Van Hove JL, Freehauf C, Miyamoto S, Vladutiu GD, Pancrudo J, Bonilla E, Lovell MA, Mierau GW, Thomas JA, Shanske S. Infantile cardiomyopathy caused by the T14709C mutation in the mitochondrial tRNA glutamic acid gene. Eur J Pediatr. 2008 Jul; 167(7):771-6. PMID: 17891417.
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    44. Van Hove JL, Steyaert J, Matthijs G, Legius E, Theys P, Wevers R, Romstad A, M?ller LB, Hedrich K, Goriounov D, Blau N, Klein C, Casaer P. Expanded motor and psychiatric phenotype in autosomal dominant Segawa syndrome due to GTP cyclohydrolase deficiency. J Neurol Neurosurg Psychiatry. 2006 Jan; 77(1):18-23. PMID: 16361586.
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    45. Seneca S, Goemans N, Van Coster R, Givron P, Reybrouck T, Sciot R, Meulemans A, Smet J, Van Hove JL. A mitochondrial tRNA aspartate mutation causing isolated mitochondrial myopathy. Am J Med Genet A. 2005 Aug 30; 137(2):170-5. PMID: 16059939.
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    46. Van Hove JL, Vande Kerckhove K, Hennermann JB, Mahieu V, Declercq P, Mertens S, De Becker M, Kishnani PS, Jaeken J. Benzoate treatment and the glycine index in nonketotic hyperglycinaemia. J Inherit Metab Dis. 2005; 28(5):651-63. PMID: 16151895.
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    47. Hoover-Fong JE, Shah S, Van Hove JL, Applegarth D, Toone J, Hamosh A. Natural history of nonketotic hyperglycinemia in 65 patients. Neurology. 2004 Nov 23; 63(10):1847-53. PMID: 15557500.
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    48. Van Hove JL, Gr?newald S, Jaeken J, Demaerel P, Declercq PE, Bourdoux P, Niezen-Koning K, Deanfeld JE, Leonard JV. D,L-3-hydroxybutyrate treatment of multiple acyl-CoA dehydrogenase deficiency (MADD). Lancet. 2003 Apr 26; 361(9367):1433-5. PMID: 12727399.
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