Publications

1. Lentini L, Toutounchi H, Chapleau A, Le A, Fournier S, Emari F, Flamini R, Rossi A, Gentile A, Bertini E, Nicita F, Pohl D, Venkateswaran S, Keller S, Rossignol E, Renaud D, Assis Pereira D, Chen X, Vanderver A, Bernard G. Stress and Quality of Life of Parents of Children With POLR3-Related Leukodystrophy: A Cross-Sectional Pilot Study. J Child Neurol. 2024 Oct 21; 8830738241283171 [Epub ahead of print]
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2. Hooshmand SJ, Chohan KL, Raghunathan A, Renaud DL, Ruff MW. BRAT1-Associated Leukodystrophy Exacerbated by Classic Hodgkin Lymphoma-Directed Therapy. Neurologist. 2024 May 1; 29 (3):170-172 Epub 2024 May 01
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3. Davis JM. Childhood apraxia of speech, oral motor apraxia, and velopharyngeal insufficiency in a young woman with a de novo pathogenic variant in the ZNF292 gene Annals of the Child Neurology Society. 2023; 1(4):327-328.
   
4. Renaud DL. Beta-Mannosidosis Is a Cause of Hypomyelination. Pediatr Neurol 2023 Mar; 140:76-77 Epub 2022 Dec 26
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5. Bieber D, Port JD, Renaud DL. Stable Leukoencephalopathy in a Patient With ACTA2-Associated Multisystem Smooth Muscle Disorder. Neurology. 2022 Aug 23; 99 (8):338-340 Epub 2022 June 17
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6. Schirwani S, Albaba S, Carere DA, Guillen Sacoto MJ, Milan Zamora F, Si Y, Rabin R, Pappas J, Renaud DL, Hauser N, Reid E, Blanchet P, Foulds N, Dixit A, Fisher R, Armstrong R, Isidor B, Cogne B, Schrier Vergano S, Demirdas S, Dykzeul N, Cohen JS, Grand K, Morel D, Slavotinek A, Albassam HF, Naik S, Dean J, Ragge N, Costa C, Tedesco MG, Harrison RE, Bouman A, Palen E, Challman TD, Willemsen MH, Vogt J, Cunniff C, Bergstrom K, Walia JS, Bruel AL, Kini U, Alkuraya FS, Slegesky V, Meeks N, Girotto P, Johnson D, Newbury-Ecob R, Ockeloen CW, Prontera P, Lynch SA, Li D, Graham JM Jr, Pierson TM, Balasubramanian M, DDD Study. Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3. Am J Med Genet A. 2021 Nov; 185 (11):3446-3458 Epub 2021 Aug 26
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7. Lin SJ, Vona B, Barbalho PG, Kaiyrzhanov R, Maroofian R, Petree C, Severino M, Stanley V, Varshney P, Bahena P, Alzahrani F, Alhashem A, Pagnamenta AT, Aubertin G, Estrada-Veras JI, Hernandez HAD, Mazaheri N, Oza A, Thies J, Renaud DL, Dugad S, McEvoy J, Sultan T, Pais LS, Tabarki B, Villalobos-Ramirez D, Rad A, Galehdari H, Ashrafzadeh F, Sahebzamani A, Saeidi K, Torti E, Elloumi HZ, Mora S, Palculict TB, Yang H, Wren JD, Ben Fowler Fowler, Joshi M, Behra M, Burgess SM, Nath SK, Hanna MG, Kenna M, Merritt JL 2nd, Houlden H, Karimiani EG, Zaki MS, Haaf T, Alkuraya FS, Gleeson JG, Varshney GK, Genomics England Research Consortium. Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish. Genet Med. 2021 Oct; 23 (10):1933-1943 Epub 2021 June 25
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8. Brodsky MC, Renaud DL. Pseudopapilledema in Cockayne syndrome. Am J Ophthalmol Case Rep. 2021 Jun; 22:101035 Epub 2021 Feb 18
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9. Mansukhani SA, Mehta DG, Renaud DL, Whealy MA, Chen JJ, Bhatti MT. Nuclear DNA Mutation Causing a Phenotypic Leber Hereditary Optic Neuropathy Plus. Ophthalmology. 2021 Apr; 128 (4):628-631 Epub 2020 Sept 09
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10. Renaud DL. Treatment of Low Cerebrospinal Fluid 5-Methyltetrahydrofolate With Leucovorin Improves Seizure Control and Development in PCDH19-Related Epilepsy. Pediatr Neurol 2021 Jan; 114:9-10 Epub 2020 Sept 01
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11. Kirsch AC, McCall DM, Lange H, Renaud D, Brown T, Zaccariello MJ. Neuropsychological Functioning in Alexander Disease: A Case Series. Child Neurol Open. 2021 Jan-Dec; 8:2329048X211048614 Epub 2021 Oct 20
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12. El Achkar CM, Harrer M, Smith L, Kelly M, Iqbal S, Maljevic S, Niturad CE, Vissers LELM, Poduri A, Yang E, Lal D, Lerche H, Moller RS, Olson HE, GABRB2 Working Group. Characterization of the GABRB2-Associated Neurodevelopmental Disorders. Ann Neurol. 2020 Dec 15 [Epub ahead of print]
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13. Drivas TG, Li D, Nair D, Alaimo JT, Alders M, Altmüller J, Barakat TS, Bebin EM, Bertsch NL, Blackburn PR, Blesson A, Bouman AM, Brockmann K, Brunelle P, Burmeister M, Cooper GM, Denecke J, Dieux-Coëslier A, Dubbs H, Ferrer A, Gal D, Bartik LE, Gunderson LB, Hasadsri L, Jain M, Karimov C, Keena B, Klee EW, Kloth K, Lace B, Macchiaiolo M, Marcadier JL, Milunsky JM, Napier MP, Ortiz-Gonzalez XR, Pichurin PN, Pinner J, Powis Z, Prasad C, Radio FC, Rasmussen KJ, Renaud DL, Rush ET, Saunders C, Selcen D, Seman AR, Shinde DN, Smith ED, Smol T, Snijders Blok L, Stoler JM, Tang S, Tartaglia M, Thompson ML, van de Kamp JM, Wang J, Weise D, Weiss K, Woitschach R, Wollnik B, Yan H, Zackai EH, Zampino G, Campeau P, Bhoj E. A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome. Eur J Hum Genet. 2020 Oct; 28(10):1422-1431. Epub 2020 Jun 01.
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14. Perrier S, Gauquelin L, Fallet-Bianco C, Dishop MK, Michell-Robinson MA, Tran LT, Guerrero K, Darbelli L, Srour M, Petrecca K, Renaud DL, Saito M, Cohen S, Leiz S, Alhaddad B, Haack TB, Tejera-Martin I, Monton FI, Rodriguez-Espinosa N, Pohl D, Nageswaran S, Grefe A, Glamuzina E, Bernard G. Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy. Neurol Genet. 2020 Jun; 6 (3):e425 Epub 2020 May 11
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15. Blackburn PR, Schultz MJ, Lahner CA, Li D, Bhoj E, Fisher LJ, Renaud DL, Kenney A, Ibrahim N, Hashem M, Zain Seidahmed M, Hasadsri L, Schrier Vergano SA, Alkuraya FS, Lanpher BC. Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2. Ann Clin Transl Neurol. 2020 Jun; 7(6):1013-1028. Epub 2020 Jun 09.
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16. Boczek NJ, Macke EL, Kemppainen J, Klee EW, Renaud DL, Gavrilova RH. Expansion of PURA-Related Phenotypes and Discovery of a Novel PURA Variant: A Case Report. Child Neurol Open. 2020 Jan-Dec; 7:2329048X20955003 Epub 2020 Oct 14
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17. Lund TC, Miller WP, Eisengart JB, Simmons K, Pollard L, Renaud DL, Wenger DA, Patterson MC, Orchard PJ. Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood-onset beta-mannosidosis. Mol Genet Genomic Med. 2019 Jul; 7 (7):e00712 Epub 2019 May 21
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18. Gupta A, Ewing SA, Renaud DL, Hasadsri L, Raymond KM, Klee EW, Gavrilova RH. Developmental delay, coarse facial features, and epilepsy in a patient with EXT2 gene variants. Clin Case Rep. 2019 Apr; 7 (4):632-637 Epub 2019 Feb 19
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19. Mauermann ML, Niu Z, Renaud DL, Kemppainen JL, Schultz MJ, Klein CJ. Targeted gene approach with biochemical assay confirms ABCD1 mutation of X-linked adrenoleukodystrophy in a 62-year-old man with gait imbalance. Neuromuscul Disord. 2019 Feb; 29(2):146-149. Epub 2018 Nov 22.
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20. Berhe S, Heeney MM, Campagna DR, Thompson JF, White EJ, Ross T, Peake RWA, Hanrahan JD, Rodriguez V, Renaud DL, Patnaik MS, Chang E, Bottomley SS, Fleming MD. Recurrent heteroplasmy for the MT-ATP6 p.Ser148Asn (m.8969G>A) mutation in patients with syndromic congenital sideroblastic anemia of variable clinical severity. Haematologica 2018 Dec; 103 (12):e561-e563 Epub 2018 July 13
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21. Ryan CS, Fine AL, Cohen AL, Schiltz BM, Renaud DL, Wirrell EC, Patterson MC, Boczek NJ, Liu R, Babovic-Vuksanovic D, Chan DC, Payne ET. De Novo DNM1L Variant in a Teenager With Progressive Paroxysmal Dystonia and Lethal Super-refractory Myoclonic Status Epilepticus. J Child Neurol. 2018 Sep; 33 (10):651-658 Epub 2018 June 07
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22. Hamilton EMC, van der Lei HDW, Vermeulen G, Gerver JAM, Lourenco CM, Naidu S, Mierzewska H, Gemke RJBJ, de Vet HCW, Uitdehaag BMJ, Lissenberg-Witte BI, van der Knaap MS, VWM Research Group. Natural History of Vanishing White Matter. Ann Neurol. 2018 Aug; 84 (2):274-288 Epub 2018 Sept 06
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23. Hamilton EMC, Tekturk P, Cialdella F, van Rappard DF, Wolf NI, Yalcinkaya C, Cetincelik U, Rajaee A, Kariminejad A, Paprocka J, Yapici Z, Bosnjak VM, van der Knaap MS, MLC Research Group. Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants. Neurology. 2018 Apr 17; 90 (16):e1395-e1403 Epub 2018 Mar 21
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24. Adang LA, Sherbini O, Ball L, Bloom M, Darbari A, Amartino H, DiVito D, Eichler F, Escolar M, Evans SH, Fatemi A, Fraser J, Hollowell L, Jaffe N, Joseph C, Karpinski M, Keller S, Maddock R, Mancilla E, McClary B, Mertz J, Morgart K, Langan T, Leventer R, Parikh S, Pizzino A, Prange E, Renaud DL, Rizzo W, Shapiro J, Suhr D, Suhr T, Tonduti D, Waggoner J, Waldman A, Wolf NI, Zerem A, Bonkowsky JL, Bernard G, van Haren K, Vanderver A, Global Leukodystrophy Initiative (GLIA) Consortium. Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies. Mol Genet Metab. 2017 Sep; 122 (1-2):18-32 Epub 2017 Aug 20
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25. Ruff MW, Nasr DM, Klaas JP, Renaud DL. Internal Carotid Artery Pseudoaneurysm and Ischemic Stroke Secondary to Retropharyngeal and Parapharyngeal Abscess. J Child Neurol. 2017 Feb; 32 (2):230-236 Epub 2016 Nov 25
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26. Renaud DL. Adult-Onset Leukoencephalopathies. Continuum (Minneap Minn). 2016 Apr; 22: (2 Dementia)559-78.
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27. Renaud D, Brodsky M. GM2-Gangliosidosis, AB Variant: Clinical, Ophthalmological, MRI, and Molecular Findings. JIMD Rep. 2016; 25:83-86 Epub 2015 June 17
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28. Jany PL, Agosta GE, Benko WS, Eickhoff JC, Keller SR, Koehler W, Koeller D, Mar S, Naidu S, Marie Ness J, Pareyson D, Renaud DL, Salsano E, Schiffmann R, Simon J, Vanderver A, Eichler F, van der Knaap MS, Messing A. CSF and Blood Levels of GFAP in Alexander Disease eNeuro. 2015 Sep; 2 (5) Epub 2015 Oct 01
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29. Qubty W, Renaud DL. Cognitive impairment associated with low ferritin responsive to iron supplementation. Pediatr Neurol. 2014 Dec; 51(6):831-3. Epub 2014 Sep 06.
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30. Tillema JM, Renaud D, Mark Keegan B. A CNS multifocal disease: Important diagnostic considerations regarding multiple sclerosis. Mult Scler Relat Disord. 2014 May; 3(3):402-7. Epub 2013 Nov 14
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31. Stockler-Ipsiroglu S, van Karnebeek C, Longo N, Korenke GC, Mercimek-Mahmutoglu S, Marquart I, Barshop B, Grolik C, Schlune A, Angle B, Araujo HC, Coskun T, Diogo L, Geraghty M, Haliloglu G, Konstantopoulou V, Leuzzi V, Levtova A, MacKenzie J, Maranda B, Mhanni AA, Mitchell G, Morris A, Newlove T, Renaud D, Scaglia F, Valayannopoulos V, van Spronsen FJ, Verbruggen KT, Yuskiv N, Nyhan W, Schulze A. Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring. Mol Genet Metab. 2014 Jan; 111(1):16-25. Epub 2013 Nov 7
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32. Clardy SL, Lennon VA, Dalmau J, Pittock SJ, Jones HR Jr, Renaud DL, Harper CM Jr, Matsumoto JY, McKeon A. Childhood onset of stiff-man syndrome. JAMA Neurol. 2013 Dec; 70 (12):1531-6
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33. Broomall E, Renaud D, Ghadban R, Gavrilova R, Brodsky MC. Peripapillary chorioretinal lacunae in a girl with 3q21.3 to 3q22.1 microdeletion with features of Aicardi syndrome. JAMA Ophthalmol. 2013 Nov; 131(11):1485-7.
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34. Stenerson M, Renaud D, Dufendach K, Swain J, Zarroug A, Homme J, Kumar S. Recurrent Wernicke encephalopathy in an adolescent female following laparoscopic gastric bypass surgery. Clin Pediatr (Phila). 2013 Nov; 52 (11):1067-9 Epub 2013 Apr 03
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35. Comeaux MS, Wang J, Wang G, Kleppe S, Zhang VW, Schmitt ES, Craigen WJ, Renaud D, Sun Q, Wong LJ. Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes. Mol Genet Metab. 2013 Jul; 109(3):260-8. Epub 2013 Apr 17.
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36. Monrad P, Renaud DL. Typical clinical findings should prompt investigation for juvenile Huntington disease. Pediatr Neurol. 2013 Apr; 48(4):333-4.
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37. Renaud DL. Lysosomal disorders associated with leukoencephalopathy. Semin Neurol. 2012 Feb; 32 (1):51-4 Epub 2012 Mar 15
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38. Tillema JM, Renaud DL. Leukoencephalopathies in adulthood. Semin Neurol. 2012 Feb; 32(1):85-94. Epub 2012 Mar 15.
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39. Renaud DL. Leukoencephalopathies associated with macrocephaly. Semin Neurol. 2012 Feb; 32 (1):34-41 Epub 2012 Mar 15
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40. Renaud DL. Clinical approach to leukoencephalopathies. Semin Neurol. 2012 Feb; 32 (1):29-33
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41. Dhamija R, Renaud DL, Pittock SJ, McKeon A, Lachance DH, Nickels KC, Wirrell EC, Kuntz NL, King MD, Lennon VA. Neuronal voltage-gated potassium channel complex autoimmunity in children. Pediatr Neurol. 2011 Apr; 44 (4):275-81
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42. Monrad P, Renaud DL. Severe spinal cord atrophy associated with spastic paraparesis. Pediatr Neurol. 2011 Jan; 44(1):75-7.
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43. Wong-Kisiel LC, Ji T, Renaud DL, Kotagal S, Patterson MC, Dalmau J, Mack KJ. Response to immunotherapy in a 20-month-old boy with anti-NMDA receptor encephalitis. Neurology. 2010 May 11; 74 (19):1550-1
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44. Barger AV, Campeau NG, Port JD, Renaud DL. MRS is the test of choice for detecting and monitoring disorders of creatine metabolism. Pediatr Neurol. 2009 May; 40(5):408-10.
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45. Matarese CA, Renaud DL. Classical (type I) lissencephaly and Miller-Dieker syndrome. Pediatr Neurol. 2009 Apr; 40 (4):324-5
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46. Renaud DL, Khan S. Development of a multidisciplinary programme for the treatment of X-linked adrenoleukodystrophy. Paediatr. Child Health (CAN). 2009; 19: (Suppl 2)S217-9.
    
47. Matarese CA, Renaud DL. Magnetic resonance imaging findings in Alexander disease. Pediatr Neurol. 2008 May; 38 (5):373-4
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48. Wong-Kisiel LC, Renaud DL, Kotagal S, Collins DA. Single-photon emission computed tomography in a child with recurrent alternating hemiplegia and quadriplegia. Pediatr Neurol. 2008 Mar; 38: (3)221-2.
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49. Maletkovic J, Schiffmann R, Gorospe JR, Gordon ES, Mintz M, Hoffman EP, Alper G, Lynch DR, Singhal BS, Harding C, Amartino H, Brown CM, Chan A, Renaud D, Geraghty M, Jensen L, Senbil N, Kadom N, Nazarian J, Yuanjian Feng, Zuyi Wang, Hartka T, Morizono H, Vanderver A. Genetic and clinical heterogeneity in eIF2B-related disorder. J Child Neurol. 2008 Feb; 23(2):205-15.
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50. Hartman GH, Renaud DL, Sundaram M, Reed AM. Spondyloarthropathy presenting at a young age: case report and review. Skeletal Radiol. 2007 Feb; 36 (2):161-4 Epub 2006 May 20
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51. Lehwald LM, Renaud DL, Campeau NG, Babovic-Vuksanovic D. Novel LMNA mutation in a patient with progeroid phenotype. J Pediatr Neurol. 2007; 5(2):143-8.
    
52. Renaud DL, Kotagal S. Pantothenate-kinase associated neurodegeneration (PKAN) "Eye of the tiger" sign. Pediatr Neurol. 2007 Jan; 36(1):70-1.
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53. Cameron JM, Levandovskiy V, Mackay N, Raiman J, Renaud DL, Clarke JT, Feigenbaum A, Elpeleg O, Robinson BH. Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity. Am J Med Genet A. 2006 Jul 15; 140(14):1542-52.
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54. Laird PW, Mohney BG, Renaud DL. Bull's-eye maculopathy in an infant with Leigh disease. Am J Ophthalmol. 2006 Jul; 142(1):186-7.
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55. Mahmud FH, Lteif AN, Renaud DL, Reed AM, Brands CK. Steroid-responsive encephalopathy associated with Hashimoto's thyroiditis in an adolescent with chronic hallucinations and depression: case report and review. Pediatrics. 2003 Sep; 112 (3 Pt 1):686-90
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56. Renaud DL, Edwards V, Wilson GJ, Tein I. Glucose-free medium exacerbates microvesicular steatosis in cultured skin fibroblasts of genetic defects of fatty acid oxidation. A novel screening test. J Inherit Metab Dis. 2002 Nov; 25(7):547-55.
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57. Sazgar M, Leonard NJ, Renaud DL, Bhargava R, Sinclair DB. Intracranial calcification, retinopathy, and osteopenia: a new syndrome? Pediatr Neurol. 2002 Apr; 26(4):324-8.
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58. Dayan RM, Renaud DL. Early-onset lysosomal glycogen storage disease with normal acid maltase. J Inherit Metab Dis. 2001 Aug; 24(4):504-6.
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59. Renaud DL, Nichol H, Locke M. The visualization of apoferritin in the secretory pathway of vertebrate liver cells. J Submicrosc Cytol Pathol. 1991 Oct; 23(4):501-7.
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