| dc.identifier.citation | 1. Goodman SI, Markey SP, Moe PG, Miles BS, Teng CC. Glutaric aciduria; a “new” disorder of amino acid metabolism. Biochemical medicine. 1975;12(1):12-21.
2. Hoffmann GF, Kölker S. Cerebral organic acid disorders and other disorders of lysine catabolism. Inborn metabolic diseases: Springer; 2016. p. 333-48.
3. Hoffmann G, Trefz F, Bremer H. Selective screening for amino and organic acid inborn errors. Wiener Klinische Wochenschrift. 1992;104(21):651-7.
4. Kölker S, Christensen E, Leonard J, Greenberg C, Burlina A, Burlina A, et al. Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I). Journal of inherited metabolic disease. 2007;30(1):5-22.
5. Hedlund GL, Longo N, Pasquali M, editors. Glutaric acidemia type 1. American Journal of Medical Genetics Part C: Seminars in Medical Genetics; 2006: Wiley Online Library.
6. Neyzi O, Ertuğrul T. Pediatri. Cilt. 2002;1(3):210-20.
7. Wangemann P. Cochlear homeostasis and homeostatic disorders. Auditory Trauma, Protection, and Repair: Springer; 2008. p. 49-100.
8. Yurdakök M. Yurdakök Pediatri. Yurdakök M, editor. Ankara: Güneş Tıp Kitapevleri; 2017. 1617-57 p.
9. Bodamer OA, Firth H, Torchia M. Organic acidemias. UpToDate; 2008.
10. Robert M.Kliegman KJM, Hal B.Jenson, Richaard E. Behrman. Nelson Pediatrinin Temelleri. Ankara: Nobel Tıp Kitapevleri; 2008.
11. Kölker S, Mayatepek E, Hoffmann G. White matter disease in cerebral organic acid disorders: clinical implications and suggested pathomechanisms. Neuropediatrics. 2002;33(05):225-31.
12. Hoffmann GF, Trefz FK, Barth PG, Böhles H-J, Biggemann B, Bremer HJ, et al. Glutaryl-coenzyme A dehydrogenase deficiency: a distinct encephalopathy. Pediatrics. 1991;88(6):1194-203.
13. Lindner M, Kölker S, Schulze A, Christensen E, Greenberg C, Hoffmann G. Neonatal screening for glutaryl-CoA dehydrogenase deficiency. Journal of inherited metabolic disease. 2004;27(6):851-9.
14. Moss J, Lane MD. The biotin-dependent enzymes. Adv Enzymol Relat Areas Mol Biol. 1971;35:321-442.
15. Hoffmann G, Zschocke J. Glutaric aciduria type I: from clinical, biochemical and molecular diversity to successful therapy. Journal of inherited metabolic disease. 1999;22(4):381-91.
16. Forstner R, Hoffmann GF, Gassner I, Heideman P, De Klerk JB, Lawrenz-Wolf B, et al. Glutaric aciduria type I: ultrasonographic demonstration of early signs. Pediatric radiology. 1999;29(2):138-43.
17. Nyhan WL, Barshop BA, Ozand PT. Atlas of Metabolic Diseases Second edition: CRC Press; 2005.
18. Superti-Furga A. Glutaric aciduria type 1 and neonatal screening: time to proceed—with caution. European journal of pediatrics. 2003;162(1):S17-S20.
19. Gitiaux C, Roze E, Kinugawa K, Flamand‐Rouvière C, Boddaert N, Apartis E, et al. Spectrum of movement disorders associated with glutaric aciduria type 1: a study of 16 patients. Movement disorders: official journal of the Movement Disorder Society. 2008;23(16):2392-7.
20. Bijarnia S, Wiley V, Carpenter K, Christodoulou J, Ellaway C, Wilcken B. Glutaric aciduria type I: outcome following detection by newborn screening. Journal of inherited metabolic disease. 2008;31(4):503-7.
21. Mushimoto Y, Fukuda S, Hasegawa Y, Kobayashi H, Purevsuren J, Li H, et al. Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 1. Molecular genetics and metabolism. 2011;102(3):343-8.
22. Twomey EL, Naughten ER, Donoghue VB, Ryan S. Neuroimaging findings in glutaric aciduria type 1. Pediatric radiology. 2003;33(12):823-30.
23. Viau K, Ernst SL, Vanzo RJ, Botto LD, Pasquali M, Longo N. Glutaric acidemia type 1: outcomes before and after expanded newborn screening. Molecular genetics and metabolism. 2012;106(4):430-8.
24. Superti-Furga A, Hoffmann G. Glutaric aciduria type 1 (glutaryl-CoA-dehydrogenase deficiency): advances and unanswered questions. European journal of pediatrics. 1997;156(11):821-8.
25. Lindner M, Ho S, Fang-Hoffmann J, Hoffmann G, Kölker S. Neonatal screening for glutaric aciduria type I: strategies to proceed. Journal of inherited metabolic disease. 2006;29(2-3):378-82.
26. Couce ML, López-Suárez O, Bóveda MD, Castiñeiras DE, Cocho JA, García-Villoria J, et al. Glutaric aciduria type I: outcome of patients with early-versus late-diagnosis. european journal of paediatric neurology. 2013;17(4):383-9.
27. Heringer J, Boy S, Ensenauer R, Assmann B, Zschocke J, Harting I, et al. Use of guidelines improves the neurological outcome in glutaric aciduria type I. Annals of neurology. 2010;68(5):743-52.
28. Gokmen‐Ozel H, MacDonald A, Daly A, Ashmore C, Preece M, Hendriksz C, et al. Dietary practices in glutaric aciduria type 1 over 16 years. Journal of Human Nutrition and Dietetics. 2012;25(6):514-9.
29. Henderson D, Hu B, Bielefeld E. Patterns and mechanisms of noise-induced cochlear pathology. Auditory trauma, protection, and repair: Springer; 2008. p. 195-217.
30. Kölker S, Koeller DM, Okun JG, Hoffmann GF. Pathomechanisms of neurodegeneration in glutaryl‐CoA dehydrogenase deficiency. Annals of Neurology: Official Journal of the American Neurological Association and the Child Neurology Society. 2004;55(1):7-12.
31. Liberman MC, Kujawa SG. Cochlear synaptopathy in acquired sensorineural hearing loss: manifestations and mechanisms. Hearing research. 2017;349:138-47.
32. Frisina ST, Mapes F, Kim S, Frisina DR, Frisina RD. Characterization of hearing loss in aged type II diabetics. Hearing research. 2006;211(1-2):103-13.
33. Lee J-W, Shim BS, Chung JW. The effect of gingko biloba on hearing in mice with noise-induced temporary threshold shift. Korean journal of audiology. 2013;17(2):74.
34. Reijntjes DO, Pyott SJ. The afferent signaling complex: regulation of type I spiral ganglion neuron responses in the auditory periphery. Hearing research. 2016;336:1-16.
35. Raphael Y, Altschuler RA. Structure and innervation of the cochlea. Brain research bulletin. 2003;60(5-6):397-422.
36. Konishi T, Salt AN, Hamrick PE. Effects of exposure to noise on ion movement in guinea pig cochlea. Hearing research. 1979;1(4):325-42.
37. Konishi T, Salt A. Electrochemical profile for potassium ions across the cochlear hair cell membranes of normal and noise-exposed guinea pigs. Hearing research. 1983;11(2):219-33.
38. Paleologou E, Ismayilova N, Kinali M. Use of the ketogenic diet to treat intractable epilepsy in mitochondrial disorders. Journal of clinical medicine. 2017;6(6):56.
39. Akyıldız N. Kulak hastalıkları ve mikrocerrahisi. Bilimsel Tıp Yayınevi, Ankara. 1998:275-330.
40. Møller AR. Hearing: its physiology and pathophysiology: Academic Press; 2000.
41. Ballenger J, Snow J. Otolaringoloji Baş ve Boyun Cerrahisi, 15. Baskı Şenocak D, çeviri editörü İstanbul: Nobel Tıp Kitapevi. 2000.
42. Santi PA, Mancini P. Cochlear anatomy and central auditory pathways. Otolaryngology Head & Neck Surgery. 1998;3:2803-26.
43. Nakashima T, Naganawa S, Sone M, Tominaga M, Hayashi H, Yamamoto H, et al. Disorders of cochlear blood flow. Brain research reviews. 2003;43(1):17-28.
44. Baloh RW, Honrubia V. Clinical neurophysiology of the vestibular system. Contemporary neurology series. 1979;18:1.
45. Reif R, Zhi Z, Dziennis S, Nuttall AL, Wang RK. Changes in cochlear blood flow in mice due to loud sound exposure measured with Doppler optical microangiography and laser Doppler flowmetry. Quantitative imaging in medicine and surgery. 2013;3(5):235.
46. Hu B. Noise-induced structural damage to the cochlea. Noise-induced hearing loss: Springer; 2012. p. 57-86.
47. Hall JE, Guyton AC. Guyton ve Hall tıbbi fizyoloji: Nobel Tıp Kitabevleri; 2013.
48. Widmaier EP, Raff H, Strang KT. Human physiology: McGraw-Hill; 2003.
49. Moore BC. An introduction to the psychology of hearing: Brill; 2012.
50. Yacullo WS. CDIS 410 Introduction to Audiology. 2008.
51. Koeppen B, Stanton B. Berne and Levy Physiology (Mosby Inc). Chapter; 2008.
52. Murdin L, Davies R. Otoacoustic emission suppression testing: A clinician's window onto the auditory efferent pathway. Audiological Medicine. 2008;6(4):238-48.
53. Seikel J, King D, Drumwright D. Anatomy of phonation. Anatomy & Physiology for Speech, Language, and Hearing, 4th ed Delmar, Cengage Learning, Clifton Park, NY. 2010:165-222.
54. MADANOĞLU NA. İşitme Mekanizmasında İşitme Yollarının Fonksiyonu.
55. Guyton A, Hall J. The sense of hearing. Textbook of medical physiology: WB Saunders Company, Philadelphia, PA; 2000. p. 602-12.
56. Brown MC. Anatomy of olivocochlear neurons. Auditory and vestibular efferents: Springer; 2011. p. 17-37.
57. Guinan Jr JJ. Olivocochlear efferents: anatomy, physiology, function, and the measurement of efferent effects in humans. Ear and hearing. 2006;27(6):589-607.
58. Moore JK, Simmons DD, Guan Y-L. The human olivocochlear system: organization and development. Audiology and Neurotology. 1999;4(6):311-25.
59. Berlin CI. Hair cells and hearing aids: Singular Publishing Group; 1995.
60. Zheng J, Shen W, He DZ, Long KB, Madison LD, Dallos P. Prestin is the motor protein of cochlear outer hair cells. Nature. 2000;405(6783):149.
61. Gkoritsa E, Korres S, Segas I, Xenelis I, Apostolopoulos N, Ferekidis E. Maturation of the auditory system: 2. Transient otoacoustic emission suppression as an index of the medial olivocochlear bundle maturation: Maduración del sistema auditivo: 2. Supresión de las emisiones otoacústicas evocadas por transitorios como índice de maduración del haz olivo-coclear medial. International journal of audiology. 2007;46(6):277-86.
62. Berlin CI, Hood LJ, Hurley A, Wen H. Contralateral suppression of otoacoustic emissions: an index of the function of the medial olivocochlear system. Otolaryngology—Head and Neck Surgery. 1994;110(1):3-21.
63. Büki B, Wit HP, Avan P. Olivocochlear efferent vs. middle-ear contributions to the alteration of otoacoustic emissions by contralateral noise. Brain research. 2000;852(1):140-50.
64. Kuwada S, Yin TC. The superior olivary complex. Translational Perspectives in Auditory Neuroscience: Normal Aspects of Hearing. 2012;1:163.
65. Dolan DF, Nuttall AL. Masked cochlear whole‐nerve response intensity functions altered by electrical stimulation of the crossed olivocochlear bundle. The Journal of the Acoustical Society of America. 1988;83(3):1081-6.
66. Hienz RD, Stiles P, May BJ. Effects of bilateral olivocochlear lesions on vowel formant discrimination in cats. Hearing research. 1998;116(1-2):10-20.
67. Rajan R. Centrifugal pathways protect hearing sensitivity at the cochlea in noisy environments that exacerbate the damage induced by loud sound. Journal of Neuroscience. 2000;20(17):6684-93.
68. Thompson AM, Thompson GC. Relationship of descending inferior colliculus projections to olivocochlear neurons. Journal of Comparative Neurology. 1993;335(3):402-12.
69. Kemp D. Otoacoustic emissions in perspective. Thieme; 1997.
70. Bonfils P, Avan P, Francois M, Marie P, Trotoux J, Narcy P. Clinical significance of otoacoustic emissions: a perspective. Ear and hearing. 1990;11(2):155-8.
71. Cane MA, Lutman ME, O'donoghue GM. Transiently evoked otoacoustic emissions in patients with cerebellopontine angle tumors. The American journal of otology. 1994;15(2):207-16.
72. Ballenger JJ. Diseases of the nose, throat, ear, head, and neck: Lea & Febiger; 1991.
73. Wake M, Anderson J, Takeno S, Mount RJ, Harrison RV. Otoacoustic emission amplification after inner hair cell damage. Acta oto-laryngologica. 1996;116(3):374-81.
74. Haris F, Probst R. Otoacoustic emissions clinical applications. New York: Stuttgart Thieme; 1997.
75. Rappaport J, Provencal C. Neuro-otology for audiologists. Handbook of clinical audiology. 2002;5:9-32.
76. Probst R, Lonsbury-Martin BL, Martin GK. A review of otoacoustic emissions. The Journal of the Acoustical Society of America. 1991;89(5):2027-67.
77. Hall J. Distortion product and transient evoked OAEs: Nonpathologic factors influencing measurement. Handbook of Otoacoustic Emissions San Diego: Singular Publishing Group. 2000:163-269.
78. Feeney MP, Keefe DH, Sanford CA. Wideband reflectance measures of the ipsilateral acoustic stapedius reflex threshold. Ear and hearing. 2004;25(5):421-30.
79. Fitzgerald T, Prieve B. Otoacoustic emissions. Handbook of clinical audiology.5:440-67.
80. Hall III J, Bondurant L. Neuro-diagnostic paediatric audiology. Paediatric Audiological Medicine. 2009:72-90.
81. Lonsbury-Martin BL, Martin GK. The clinical utility of distortion-product otoacoustic emissions. Ear and hearing. 1990;11(2):144-54.
82. Hall JW. Handbook of otoacoustic emissions: Cengage Learning; 2000.
83. Maison S, Micheyl C, Collet L. The medial olivocochlear efferent system in humans: structure and function. Scandinavian audiology Supplementum. 1999;51:77-84.
84. Bargones JY, Burns EM. Suppression tuning curves for spontaneous otoacoustic emissions in infants and adults. The Journal of the Acoustical Society of America. 1988;83(5):1809-16.
85. Topçuoğlu T. Deneysel intratimpanik steroid uygulamasının koklea fonksiyonları üzerine etkisinin elektrofizyolojik ve ultrastrüktürel olarak değerlendirilmesi. 2008.
86. Cummings C.W FPW, Harker L.A, Haugley B.H, Richardson M.A, Robbins K.T, Schuller D.E, Thomas J.R. Otolaringoloji Baş ve Boyun Cerrahisi.C. Koç.1998. 3094-6, 115, 487-489 p.
87. Møller AR. Hearing: anatomy, physiology, and disorders of the auditory system: Plural Publishing; 2012.
88. Park JD, Lim B, Kim KJ, Hwang YS, Kim SK, Kang S-H, et al. Glutaric aciduria type 1 in Korea: report of two novel mutations. Journal of Korean medical science. 2010;25(6):957-60.
89. Konomi U, Kanotra S, James AL, Harrison RV. Age related changes to the dynamics of contralateral DPOAE suppression in human subjects. Journal of Otolaryngology-Head & Neck Surgery. 2014;43(1):15.
90. Busquets C, Merinero B, Christensen E, Gelpí JL, Campistol J, Pineda M, et al. Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct. Pediatric research. 2000;48(3):315.
91. Kokotas H, Petersen MB, Willems PJ. Mitochondrial deafness. Clinical genetics. 2007;71(5):379-91.
92. Ishiyama G, Lopez I, Baloh RW, Ishiyama A. Canavan’s leukodystrophy is associated with defects in cochlear neurodevelopment and deafness. Neurology. 2003;60(10):1702-4.
93. Clark JG. Uses and abuses of hearing loss classification. Asha. 1981;23(7):493-500.
94. Monavari A, Naughten E. Prevention of cerebral palsy in glutaric aciduria type 1 by dietary management. Archives of disease in childhood. 2000;82(1):67-70.
95. Hoffmann G, Athanassopoulos S, Burlina A, Duran M, De Klerk J, Lehnert W, et al. Clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency. Neuropediatrics. 1996;27(03):115-23.
96. Korman SH, Jakobs C, Darmin PS, Gutman A, van der Knaap MS, Ben-Neriah Z, et al. Glutaric aciduria type 1: clinical, biochemical and molecular findings in patients from Israel. European Journal of Paediatric Neurology. 2007;11(2):81-9.
97. Kölker S, Garbade SF, Greenberg CR, Leonard JV, Saudubray J-M, Ribes A, et al. Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency. Pediatric research. 2006;59(6):840.
98. McKee G, Stephens S. An investigation of normally hearing subjects with tinnitus. Audiology. 1992;31(6):313-7.
99. Kotylo MS-KP. Occupational exposure to noise decreases otoacoustic emission efferent suppression: La exposición laboral al ruido disminuye la supresión eferente otoacústica. International journal of audiology. 2002;41(2):113-9.
100. Kemp D. Otoacoustic emissions, travelling waves and cochlear mechanisms. Hearing research. 1986;22(1-3):95-104.
101. Lisowska G, Namyslowski G, Morawski K, Strojek K. Early identification of hearing impairment in patients with type 1 diabetes mellitus. Otology & neurotology. 2001;22(3):316-20.
102. Frederik N. Martin JGC. İntroduction to Audiology: 8.; 2003. 158-61 p.
103. Collet L, Gartner M, Veuillet E, Moulin A, Morgon A. Evoked and spontaneous otoacoustic emissions: A comparison of neonates and adults. Brain and Development. 1993;15(4):249-52.
104. McFadden D, Martin GK, Stagner BB, Maloney MM. Sex differences in distortion-product and transient-evoked otoacoustic emissions compared. The Journal of the Acoustical Society of America. 2009;125(1):239-46.
105. Bonfils P, Bertrand Y, Uziel A. Evoked otoacoustic emissions: normative data and presbycusis. Audiology. 1988;27(1):27-35.
106. de Oliveira JRM, Fernandes JC, Costa Filho OA. Age impact on the eferent system actitivies in cochlear mechanical properties in normal hearing individuals. Brazilian journal of otorhinolaryngology. 2009;75(3):340-4.
107. Kim S, Frisina DR, Frisina RD. Effects of age on contralateral suppression of distortion product otoacoustic emissions in human listeners with normal hearing. Audiology and Neurotology. 2002;7(6):348-57.
108. Yilmaz S, Sennaroglu G, Sennaroglu L, Köse S. Effect of age on speech recognition in noise and on contralateral transient evoked otoacoustic emission suppression. The Journal of laryngology and otology. 2007;121(11):1029.
109. Collet L, Veuillet E, Bene J, Morgon A. Effects of contralateral white noise on click-evoked emissions in normal and sensorineural ears: towards an exploration of the medial olivocochlear system. Audiology. 1992.
110. Veuillet E, Khalfa S, Collet L. Clinical relevance of medial efferent auditory pathways. Scandinavian Audiology Supplementum. 1999;51:53-62.
111. Sivri HSK, Genç GA, Tokatlı A, Dursun A, Coşkun T, Aydın Hİ, et al. Hearing loss in biotinidase deficiency: genotype-phenotype correlation. The Journal of pediatrics. 2007;150(4):439-42.
112. Heller AJ, Stanley C, Shaia WT, Sismanis A, Spencer RF, Wolf B. Localization of biotinidase in the brain: implications for its role in hearing loss in biotinidase deficiency. Hearing research. 2002;173(1-2):62-8.
113. Prasher D, Ryan S, Luxon L. Contralateral suppression of transiently evoked otoacoustic emissions and neuro-otology. British journal of audiology. 1994;28(4-5):247-54.
114. Strauss KA, Puffenberger EG, Robinson DL, Morton DH, editors. Type I glutaric aciduria, part 1: natural history of 77 patients. American Journal of Medical Genetics Part C: Seminars in Medical Genetics; 2003: Wiley Online Library.
115. Mcclelland VM, Bakalinova DB, Hendriksz C, Singh RP. Glutaric aciduria type 1 presenting with epilepsy. Developmental Medicine & Child Neurology. 2009;51(3):235-9.
116. Yalnızoğlu D, Sarı N, Turanlı G, Coşkun T, Topçu M. Neurophysiologic features in glutaric aciduria type 1. The Turkish journal of pediatrics. 2005;47(2):153-8.
117. Fujimoto S, Shibata H, Sugiyama N, Ohba S, Togari H, Wada Y. Unique electroencephalographic change of acute encephalopathy in glutaric aciduria type 1. The Tohoku journal of experimental medicine. 2000;191(1):31-8.
118. ÖZTEKİN MF. Elektroensefalografi (EEG). Turkiye Klinikleri Journal of Neurology. 2004;2(2):107-9.
119. Muş N, Özdamar Ö. İşitsel Beyin Sapı Cevapları. GATA, Ankara, sayfa. 1996;36.
120. Komura Y, Kaga K, Ogawa Y, Yamaguchi Y, Tsuzuku T, Suzuki J-I. ABR and temporal bone pathology in Hurler's disease. International journal of pediatric otorhinolaryngology. 1998;43(2):179-88.
121. Kadowaki T, Kadowaki H, Mori Y, Tobe K, Sakuta R, Suzuki Y, et al. A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA. New England Journal of Medicine. 1994;330(14):962-8.
122. Namysłowski G, Trybalska G, Scierski W, Mrowka-Kata K, Bilińska-Pietraszek E, Kawecki D. Hearing evaluation in patients suffering from hypercholesterolemia. Otolaryngologia polska= The Polish otolaryngology. 2003;57(5):725-30.
123. Rybak LP, Whitworth C, Weberg AD, Scott V, Bhardwaj B. Rat as a potential model for hearing loss in biotinidase deficiency. Annals of Otology, Rhinology & Laryngology. 1991;100(4):294-300.
124. Maheras KJ, Pindolia K, Wolf B, Gow A. Developmental window of sensorineural deafness in biotinidase-deficient mice. Journal of inherited metabolic disease. 2017;40(5):733-44.
125. Stigsby B, Yarworth S, Rahbeeni Z, Dabbagh O, de Gier Munk C, Abdo N, et al. Neurophysiologic correlates of organic acidemias: a survey of 107 patients. Brain and Development. 1994;16:125-44.
126. Takahashi K, Nakamura H. Axonal degeneration in beriberi neuropathy. Archives of neurology. 1976;33(12):836-41.
127. Buchwald JS, Huang C. Far-field acoustic response: origins in the cat. Science. 1975;189(4200):382-4.
128. Bloom W, Fawcett D. The ear. Textbook of Histology, 9th Edition Philadelphia: WB Saunders Co. 1968:812-37.
129. Hood LJ. Clinical applications of the auditory brainstem response: Singular; 1998.
130. Oiticica J, Bittar RSM. Metabolic disorders prevalence in sudden deafness. Clinics. 2010;65(11):1149-553.
131. Zwirner P, Wilichowski E. Progressive sensorineural hearing loss in children with mitochondrial encephalomyopathies. The Laryngoscope. 2001;111(3):515-21.
132. Fischel-Ghodsian N, Kopke RD, Ge X. Mitochondrial dysfunction in hearing loss. Mitochondrion. 2004;4(5):675-94.
(https://www.researchgate.net/figure/Cross-section-of-the-cochlea-The-organ-of-Corti-is-located-on-the-basilar-membrane-in_fig2_319143500) | tr_TR |
