{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T04:11:30Z","timestamp":1792987890647,"version":"4.5.0"},"reference-count":63,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2007,10,3]],"date-time":"2007-10-03T00:00:00Z","timestamp":1191369600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/2.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"published-print":{"date-parts":[[2007,12]]},"DOI":"10.1186\/1750-1172-2-39","type":"journal-article","created":{"date-parts":[[2007,10,3]],"date-time":"2007-10-03T18:15:00Z","timestamp":1191435300000},"source":"Crossref","is-referenced-by-count":194,"title":["Hereditary sensory and autonomic neuropathies: types II, III, and IV"],"prefix":"10.1186","volume":"2","author":[{"given":"Felicia B","family":"Axelrod","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabrielle","family":"Gold-von Simson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2007,10,3]]},"reference":[{"key":"90_CR1","first-page":"2802","volume-title":"Principles and Practice of Medical Genetics","author":"FB Axelrod","year":"2007","unstructured":"Axelrod FB: Autonomic and Sensory Disorders. Principles and Practice of Medical Genetics. Volume3. 5th edition. Edited by: Rimoin DL, Connor JM, Pyeritz RE, Korf BR. Edinburgh: Churchill Livingstone; 2007:2802-2816.","edition":"5"},{"key":"90_CR2","first-page":"791","volume-title":"Peripheral Neuropathy","author":"P Dyck","year":"1975","unstructured":"Dyck P, Ohta M: Neuronal atrophy and degeneration predominantly affecting peripheral sensory neurons. Peripheral Neuropathy. Volume 2. Edited by: Dyck PJ, Thomas PK, Lambert EH. Philadelphia: WB Saunders; 1975:791."},{"key":"90_CR3","doi-asserted-by":"publisher","first-page":"947","DOI":"10.1001\/archpedi.1984.02140480049016","volume":"138","author":"FB Axelrod","year":"1984","unstructured":"Axelrod FB, Pearson J: Congenital sensory neuropathies. Diagnostic distinction from familial dysautonomia. Am J Dis Child. 1984, 138: 947-954.","journal-title":"Am J Dis Child"},{"key":"90_CR4","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1542\/peds.3.4.468","volume":"3","author":"CM Riley","year":"1949","unstructured":"Riley CM, Day RL, Greely DMcL, Langford WS: Central autonomic dysfunction with defective lacrimation. Pediatrics. 1949, 3: 468-477.","journal-title":"Pediatrics"},{"key":"90_CR5","doi-asserted-by":"publisher","first-page":"1301","DOI":"10.1172\/JCI0216450","volume":"110","author":"K Bejaoui","year":"2002","unstructured":"Bejaoui K, Uchida Y, Yasuda S, Ho M, Nishijima M, Brown RH, Holleran WM, Hanada K: Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis. J Clin Invest. 2002, 110: 1301-1308. 10.1172\/JCI200216450.","journal-title":"J Clin Invest"},{"key":"90_CR6","doi-asserted-by":"publisher","first-page":"309","DOI":"10.1038\/85879","volume":"27","author":"JL Dawkins","year":"2001","unstructured":"Dawkins JL, Hulme DJ, Brahmbhatt SB, Auer-Grumbach M, Nicholson GA: Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I. Nat Genet. 2001, 27: 309-312. 10.1038\/85879.","journal-title":"Nat Genet"},{"key":"90_CR7","doi-asserted-by":"publisher","first-page":"753","DOI":"10.1086\/318808","volume":"68","author":"SL Anderson","year":"2001","unstructured":"Anderson SL, Coli R, Daly IW, Kichula EA, Rork MJ, Volpi SA, Ekstein J, Rubin BY: Familial dysautonomia is caused by mutations of the IKAP gene. Am J Hum Genet. 2001, 68: 753-758. 10.1086\/318808.","journal-title":"Am J Hum Genet"},{"key":"90_CR8","doi-asserted-by":"publisher","first-page":"598","DOI":"10.1086\/318810","volume":"68","author":"SA Slaugenhaupt","year":"2001","unstructured":"Slaugenhaupt SA, Blumenfeld A, Gill SP, Leyne M, Mull J, Cuajungco MP, Liebert CB, Chadwick B, Idelson M, Reznik L, Robbins C, Makalowska I, Brownstein M, Krappmann D, Scheidereit C, Maayan C, Axelrod FB, Gusella JF: Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. Am J Hum Genet. 2001, 68: 598-605. 10.1086\/318810.","journal-title":"Am J Hum Genet"},{"issue":"4","key":"90_CR9","doi-asserted-by":"publisher","first-page":"305","DOI":"10.1002\/ajmg.a.20052","volume":"118","author":"M Leyne","year":"2003","unstructured":"Leyne M, Mull J, Gill SP, Cuajungco MP, Oddoux C, Blumenfeld A, Maayan C, Gusella JF, Axelrod FB, Slaugenhaupt SA: Identification of the first non-Jewish mutation in familial Dysautonomia. Am J Med Genet A. 2003, 118 (4): 305-308. 10.1002\/ajmg.a.20052.","journal-title":"Am J Med Genet A"},{"key":"90_CR10","doi-asserted-by":"publisher","first-page":"106","DOI":"10.1111\/j.1399-0004.1987.tb03334.x","volume":"32","author":"Ch Maayan","year":"1987","unstructured":"Maayan Ch, Kaplan E, Shachar SH, Peleg O, Godfrey S: Incidence of familial dysautonomia in Israel 1977\u20131981. Clin Genet. 1987, 32: 106-108.","journal-title":"Clin Genet"},{"key":"90_CR11","doi-asserted-by":"publisher","first-page":"160","DOI":"10.1038\/ng0693-160","volume":"4","author":"A Blumenfeld","year":"1993","unstructured":"Blumenfeld A, Slaugenhaupt SA, Axelrod FB, Lucente DE, Maayan Ch, Lieberg CB, Ozelius LJ, Trofatter JA, Haines JL, Breakefield XO, Gusella JF: Localization of the gene for familial dysautonomia on Chromosome 9 and definition of DNA markers for genetic diagnosis. Nature Genet. 1993, 4: 160-164. 10.1038\/ng0693-160.","journal-title":"Nature Genet"},{"key":"90_CR12","doi-asserted-by":"publisher","first-page":"485","DOI":"10.1038\/ng0896-485","volume":"13","author":"Y Indo","year":"1996","unstructured":"Indo Y, Tsuruta M, Hayashida Y, Karim MA, Ohta K, Kawano T, Mitsubuchi H, Tonoki H, Awaya Y, Matsuda I: Mutations in the TRKA\/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis. Nat Genet. 1996, 13: 485-488. 10.1038\/ng0896-485.","journal-title":"Nat Genet"},{"key":"90_CR13","doi-asserted-by":"publisher","first-page":"164","DOI":"10.1002\/1096-8628(2000)9999:999<00::AID-AJMG1125>3.0.CO;2-B","volume":"99","author":"E Toscano","year":"2001","unstructured":"Toscano E, Andria G: Congenital insensitivity to pain with anhidrosis: an NGF\/TrkA-ralated disorder. Am J Med Genet. 2001, 99: 164-165. 10.1002\/1096-8628(2000)9999:999<00::AID-AJMG1125>3.0.CO;2-B.","journal-title":"Am J Med Genet"},{"key":"90_CR14","doi-asserted-by":"publisher","first-page":"521","DOI":"10.1002\/ana.103","volume":"49","author":"H Houlden","year":"2001","unstructured":"Houlden H, King RH, Hashemi-Nejad A, Wood NW, Mathias CJ, Reilly M, Thomas PK: A novel TRK A (NTRK1) mutation associated with hereditary sensory and autonomic neuropathy type V. Ann Neurol. 2001, 49: 521-525. 10.1002\/ana.103.","journal-title":"Ann Neurol"},{"key":"90_CR15","doi-asserted-by":"publisher","first-page":"51","DOI":"10.1007\/BF01824213","volume":"2","author":"PK Thomas","year":"1992","unstructured":"Thomas PK: Autonomic involvement in inherited neuropathies. Clin Auton Res. 1992, 2: 51-56. 10.1007\/BF01824213.","journal-title":"Clin Auton Res"},{"key":"90_CR16","first-page":"1065","volume-title":"Peripheral Neuropathy","author":"PJ Dyck","year":"1993","unstructured":"Dyck PJ: Neuronal atrophy and degeneration predominantly affecting peripheral sensory and autonomic neurons. Peripheral Neuropathy Volume 2. Edited by: Dyck PJ, Thomas PK, Griffin JW, Low PA, Podulso JF. Philadelphia: W.B. Saunders; 1993: 1065-1093."},{"issue":"Suppl 1","key":"90_CR17","doi-asserted-by":"publisher","first-page":"I2","DOI":"10.1007\/s102860200014","volume":"12","author":"FB Axelrod","year":"2002","unstructured":"Axelrod FB: Hereditary sensory and autonomic neuropathies. Familial dysautonomia and other HSANs. Clin Auton Res. 2002, 12 (Suppl 1): I2-I14. 10.1007\/s102860200014.","journal-title":"Clin Auton Res"},{"key":"90_CR18","doi-asserted-by":"publisher","first-page":"128","DOI":"10.1136\/adc.49.2.128","volume":"49","author":"JE Barry","year":"1974","unstructured":"Barry JE, Hopkins IJ, Neal BW: Congenital sensory neuropathy. Arch Dis Child. 1974, 49: 128-132.","journal-title":"Arch Dis Child"},{"issue":"Suppl 1","key":"90_CR19","doi-asserted-by":"publisher","first-page":"I33","DOI":"10.1007\/s102860200017","volume":"12","author":"MJ Hilz","year":"2002","unstructured":"Hilz MJ: Assessment and evaluation of hereditary sensory and autonomic neuropathies with autonomic and neurophysiological examinations. Clin Auton Res. 2002, 12 (Suppl 1): I33-I43. 10.1007\/s102860200017.","journal-title":"Clin Auton Res"},{"issue":"3","key":"90_CR20","doi-asserted-by":"publisher","first-page":"445","DOI":"10.1067\/mjd.2002.117213","volume":"47","author":"AL Zaenglein","year":"2002","unstructured":"Zaenglein AL, Chang MW, Meehan SA, Axelrod FB, Orlow SJ: Extensive Riga-Fede disease of the lip and tongue. J Am Acad Dermatol. 2002, 47 (3): 445-447. 10.1067\/mjd.2002.117213.","journal-title":"J Am Acad Dermatol"},{"issue":"4","key":"90_CR21","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1542\/peds.67.4.517","volume":"67","author":"FB Axelrod","year":"1981","unstructured":"Axelrod FB, Iyer K, Fish I, Pearson J, Sein ME, Spielholz N: Progressive sensory loss in familial dysautonomia. Pediatrics. 1981, 67 (4): 517-522.","journal-title":"Pediatrics"},{"issue":"3","key":"90_CR22","doi-asserted-by":"publisher","first-page":"352","DOI":"10.1002\/mus.10499","volume":"29","author":"FB Axelrod","year":"2004","unstructured":"Axelrod FB: Familial dysautonomia. Muscle Nerve. 2004, 29 (3): 352-363. 10.1002\/mus.10499.","journal-title":"Muscle Nerve"},{"key":"90_CR23","doi-asserted-by":"publisher","first-page":"509","DOI":"10.1016\/S0022-3476(65)80115-9","volume":"66","author":"J Filler","year":"1965","unstructured":"Filler J, Smith AA, Stone S, Dancis J: Respiratory control in familial dysautonomia. J Pediatr. 1965, 66: 509-516. 10.1016\/S0022-3476(65)80115-9.","journal-title":"J Pediatr"},{"issue":"6","key":"90_CR24","doi-asserted-by":"publisher","first-page":"1153","DOI":"10.1172\/JCI106330","volume":"49","author":"NH Edelman","year":"1970","unstructured":"Edelman NH, Cherniack NS, Lahiri S, Richards E, Fishman AP: The effects of abnormal sympathetic nervous function upon the ventilatory response to hypoxia. J Clin Invest. 1970, 49 (6): 1153-1165.","journal-title":"J Clin Invest"},{"key":"90_CR25","doi-asserted-by":"publisher","first-page":"1186","DOI":"10.1063\/1.351801","volume":"72","author":"Ch Maayan","year":"1992","unstructured":"Maayan Ch, Carley DW, Axelrod FB, Grimes J, Shannon DC: Respiratory system stability and abnormal carbon dioxide homeostasis. J Appl Physiol. 1992, 72: 1186-1193. 10.1063\/1.351801.","journal-title":"J Appl Physiol"},{"key":"90_CR26","doi-asserted-by":"publisher","first-page":"141","DOI":"10.1164\/rccm.200207-677OC","volume":"167","author":"L Bernardi","year":"2002","unstructured":"Bernardi L, Hilz M, Stemper B, Passino C, Welsch G, Axelrod FB: Respiratory and cerebrovascular responses to hypoxia and hypercapnia in familial dysautonomia. Am J Respir Crit Care Med. 2002, 167: 141-149. 10.1164\/rccm.200207-677OC.","journal-title":"Am J Respir Crit Care Med"},{"key":"90_CR27","doi-asserted-by":"publisher","first-page":"630","DOI":"10.1056\/NEJM197603182941202","volume":"294","author":"MG Ziegler","year":"1976","unstructured":"Ziegler MG, Lake RC, Kopin IJ: Deficient sympathetic nervous system response in familial dysautonomia. N Engl J Med. 1976, 294: 630-633.","journal-title":"N Engl J Med"},{"key":"90_CR28","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1007\/BF02291135","volume":"6","author":"FB Axelrod","year":"1996","unstructured":"Axelrod FB, Goldstein DS, Holmes C, Berlin D, Kopin IJ: Pattern of plasma levels of catecholamines in familial dysautonomia. Clin Auton Res. 1996, 6: 205-209. 10.1007\/BF02291135.","journal-title":"Clin Auton Res"},{"key":"90_CR29","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1542\/peds.36.2.225","volume":"36","author":"AA Smith","year":"1965","unstructured":"Smith AA, Hirsch JI, Dancis J: Responses to infused methacholine in familial dysautonomia. Pediatrics. 1965, 36: 225-230.","journal-title":"Pediatrics"},{"key":"90_CR30","doi-asserted-by":"publisher","first-page":"299","DOI":"10.1136\/jnnp.73.3.299","volume":"73","author":"A Bickel","year":"2002","unstructured":"Bickel A, Axelrod FB, Schmetz M, Marthal H, Hilz MJ: Dermal microdialysis provides evidence for hypersensitivity to noradrenaline in patients with familial dysautonomia. J Neurol Neurosurg Psychiatry. 2002, 73: 299-302. 10.1136\/jnnp.73.3.299.","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"90_CR31","doi-asserted-by":"publisher","first-page":"177","DOI":"10.1007\/BF02291353","volume":"10","author":"MJ Hilz","year":"2000","unstructured":"Hilz MJ, Axelrod FB: Quantitative sensory testing of thermal and vibratory perception in familial dysautonomia. Clin Auton Res. 2000, 10: 177-183. 10.1007\/BF02291353.","journal-title":"Clin Auton Res"},{"key":"90_CR32","doi-asserted-by":"publisher","first-page":"1558","DOI":"10.1302\/0301-620X.82B7.10507","volume":"82","author":"S Hayek","year":"2000","unstructured":"Hayek S, Laplaza J, Axelrod FB, Burke SW: Spinal deformity in familial dysautonomia: Prevalence and results of brace management. J Bone Joint Surg Am. 2000, 82: 1558-1562. 10.1302\/0301-620X.82B7.10507.","journal-title":"J Bone Joint Surg Am"},{"key":"90_CR33","doi-asserted-by":"crossref","first-page":"708","DOI":"10.1542\/peds.63.5.708","volume":"63","author":"W Welton","year":"1979","unstructured":"Welton W, Clayson D, Axelrod FB, Levine DB: Intellectual development and familial dysautonomia. Pediatrics. 1979, 63: 708-712.","journal-title":"Pediatrics"},{"key":"90_CR34","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1542\/peds.65.2.269","volume":"65","author":"D Clayson","year":"1980","unstructured":"Clayson D, Welton W, Axelrod FB: Personality development and familial dysautonomia. Pediatrics. 1980, 65: 269-274.","journal-title":"Pediatrics"},{"key":"90_CR35","first-page":"285","volume-title":"Current Ocular Therapy","author":"FB Axelrod","year":"2000","unstructured":"Axelrod FB, Solomon J, D'Amico R: Familial dysautonomia. Current Ocular Therapy. 5th edition. Edited by: Fraunfelder FT, Hampton Roy F. Philadelphia: WB Saunders; 2000:285-288.","edition":"5"},{"key":"90_CR36","doi-asserted-by":"publisher","first-page":"102","DOI":"10.1038\/ki.1980.12","volume":"17","author":"J Pearson","year":"1980","unstructured":"Pearson J, Gallo G, Gluck M, Axelrod FB: Renal disease in familial dysautonomia. Kidney Int. 1980, 17: 102-112. 10.1038\/ki.1980.12.","journal-title":"Kidney Int"},{"key":"90_CR37","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1007\/s10286-005-0218-2","volume":"15","author":"G Gold-von Simson","year":"2005","unstructured":"Gold-von Simson G, Rutkowski M, Berlin D, Axelrod FB: Pacemakers in patients with familial dysautonomia. A review of experience with 20 patients. Clin Auton Res. 2005, 15: 15-20. 10.1007\/s10286-005-0218-2.","journal-title":"Clin Auton Res"},{"key":"90_CR38","doi-asserted-by":"publisher","first-page":"223","DOI":"10.1007\/BF02291353","volume":"10","author":"MJ Hilz","year":"2000","unstructured":"Hilz MJ, Bernardi L, Stemper B, Welsch G, Haendl T, Passino C, Axelrod FB: Impaired cerebral autoregulation during baroreflex activation in familial dysautonomia [abstract]. Clin Auton Res. 2000, 10: 223-10.1007\/BF02291353.","journal-title":"Clin Auton Res"},{"key":"90_CR39","first-page":"187","volume":"11","author":"B Stemper","year":"2001","unstructured":"Stemper B, Hilz MJ, Bernardi L, Welsch G, Passino C, Axelrod FB: Hypoxic chemoreceptor stimulation induces paradoxic cardiovascular responses in familial dysautonomia [abstract]. Clin Auton Res. 2001, 11: 187-","journal-title":"Clin Auton Res"},{"issue":"5","key":"90_CR40","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1016\/0002-9378(78)90740-8","volume":"132","author":"RF Porges","year":"1978","unstructured":"Porges RF, Axelrod FB, Richards M: Pregnancy in familial dysautonomia. Amer J Obstet Gynecol. 1978, 132 (5): 485-488.","journal-title":"Amer J Obstet Gynecol"},{"issue":"5","key":"90_CR41","doi-asserted-by":"publisher","first-page":"780","DOI":"10.1053\/j.ajkd.2006.07.024","volume":"48","author":"L Elkayam","year":"2006","unstructured":"Elkayam L, Matalon A, Tseng CH, Axelrod F: Prevalence and severity of renal disease in familial dysautonomia. Am J Kidney Dis. 2006, 48 (5): 780-786. 10.1053\/j.ajkd.2006.07.024.","journal-title":"Am J Kidney Dis"},{"key":"90_CR42","doi-asserted-by":"publisher","first-page":"518","DOI":"10.1067\/mpd.2002.127088","volume":"141","author":"FB Axelrod","year":"2002","unstructured":"Axelrod FB, Goldberg JD, Xiang YY, Maayan Ch: Survival in familial dysautonomia: Impact of early intervention. J Pediatr. 2002, 141: 518-523. 10.1067\/mpd.2002.127088.","journal-title":"J Pediatr"},{"key":"90_CR43","doi-asserted-by":"publisher","first-page":"288","DOI":"10.1111\/j.1749-6632.1974.tb20517.x","volume":"228","author":"J Pearson","year":"1974","unstructured":"Pearson J, Axelrod F, Dancis J: Current concepts of dysautonomia: neuropathological defects. Ann NY Acad Sci. 1974, 228: 288-300. 10.1111\/j.1749-6632.1974.tb20517.x.","journal-title":"Ann NY Acad Sci"},{"key":"90_CR44","doi-asserted-by":"publisher","first-page":"106","DOI":"10.1001\/archneur.1971.00480320034003","volume":"24","author":"A Aguayo","year":"1971","unstructured":"Aguayo A, Nair CPV, Bray GM: Peripheral nerve abnormalities in the RileyDay syndrome. Arch Neurol. 1971, 24: 106-116.","journal-title":"Arch Neurol"},{"key":"90_CR45","doi-asserted-by":"publisher","first-page":"413","DOI":"10.1097\/00005072-197509000-00004","volume":"34","author":"J Pearson","year":"1975","unstructured":"Pearson J, Dancis J, Axelrod F, Grover N: The sural nerve in familial dysautonomia. J Neuropathol Exp Neurol. 1975, 34: 413-424.","journal-title":"J Neuropathol Exp Neurol"},{"key":"90_CR46","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1016\/0022-510X(78)90187-9","volume":"39","author":"J Pearson","year":"1978","unstructured":"Pearson J, Pytel B: Quantitative studies of sympathetic ganglia and spinal cord intermediolateral gray columns in familial dysautonomia. J Neurol Sci. 1978, 39: 47-59. 10.1016\/0022-510X(78)90187-9.","journal-title":"J Neurol Sci"},{"key":"90_CR47","doi-asserted-by":"publisher","first-page":"217","DOI":"10.1111\/j.1365-2990.1976.tb00498.x","volume":"2","author":"N GroverJohnson","year":"1976","unstructured":"GroverJohnson N, Pearson J: Deficient vascular innervation in familial dysautonomia, an explanation for vasomotor instability. Neuropathol Appl Neurobiol. 1976, 2: 217-224.","journal-title":"Neuropathol Appl Neurobiol"},{"key":"90_CR48","doi-asserted-by":"publisher","first-page":"2090","DOI":"10.1093\/brain\/awh235","volume":"127","author":"MJ Hilz","year":"2004","unstructured":"Hilz MJ, Axelrod FB, Bickel A, Stemper B, Brys M, Wendelschafer-Crabb G, Kennedy W: Assessing function and pathology in familial dysautonomia: Assessment of temperature perception, sweating and cutaneous innervation. Brain. 2004, 127: 2090-2098. 10.1093\/brain\/awh235.","journal-title":"Brain"},{"issue":"9","key":"90_CR49","doi-asserted-by":"publisher","first-page":"579","DOI":"10.1089\/104454901317094990","volume":"20","author":"MP Cuajungco","year":"2001","unstructured":"Cuajungco MP, Leyne M, Mull J, Gill SP, Gusella JF, Slaugenhaupt SA: Cloning, characterization, and genomic structure of the mouse Ikbkap gene. DNA Cell Biol. 2001, 20 (9): 579-586. 10.1089\/104454901317094990.","journal-title":"DNA Cell Biol"},{"key":"90_CR50","first-page":"437","volume-title":"Gellis and Kagen's Current Pediatric Therapy","author":"FB Axelrod","year":"2002","unstructured":"Axelrod FB, Maayan Ch: Familial dysautonomia. Gellis and Kagen's Current Pediatric Therapy. 17th edition. Edited by: Burg FD, Ingelfinger JR, Polin RA, Gershon AA. Philadelphia: WB Saunders; 2002:437-441.","edition":"17"},{"key":"90_CR51","doi-asserted-by":"publisher","first-page":"561","DOI":"10.1517\/14656566.6.4.561","volume":"6","author":"FB Axelrod","year":"2005","unstructured":"Axelrod FB: Familial dysautonomia: A review of the current pharmacological treatments. Expert Opin Pharmacother. 2005, 6: 561-567. 10.1517\/14656566.6.4.561.","journal-title":"Expert Opin Pharmacother"},{"key":"90_CR52","doi-asserted-by":"publisher","first-page":"122","DOI":"10.1212\/WNL.55.1.122","volume":"55","author":"FB Axelrod","year":"2000","unstructured":"Axelrod FB, Zupanc M, Hilz MJ, Kramer EL: Ictal SPECT during autonomic crisis in familial dysautonomia. Neurology. 2000, 55: 122-125.","journal-title":"Neurology"},{"issue":"1-2","key":"90_CR53","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1016\/0165-1838(95)00023-Q","volume":"55","author":"FB Axelrod","year":"1995","unstructured":"Axelrod FB, Krey L, Glickstein JS, Allison JW, Friedman D: Preliminary observations on the use of midodrine in treating orthostatic hypotension in familial dysautonomia. J Auton Nerv Syst. 1995, 55 (1-2): 29-35. 10.1016\/0165-1838(95)00023-Q.","journal-title":"J Auton Nerv Syst"},{"key":"90_CR54","doi-asserted-by":"publisher","first-page":"284","DOI":"10.1007\/s10286-005-0288-1","volume":"15","author":"FB Axelrod","year":"2005","unstructured":"Axelrod FB, Goldberg JD, Rolnitzky L, Mull J, Mann SP, Gold von Simson G, Berlin D, Slaugenhaupt SA: Fludrocortisone in patients with familial dysautonomia: assessing effect on clinical parameters and gene expression. Clin Auton Res. 2005, 15: 284-291. 10.1007\/s10286-005-0288-1.","journal-title":"Clin Auton Res"},{"key":"90_CR55","volume-title":"Society of Human Genetics","author":"C Oddoux","year":"1999","unstructured":"Oddoux C, Wang J, Clayton CM, Hilz M, Cilio MR, Bertini E, Maayan Ch, Blumenfeld A, Axelrod F, Ostrer H: Genetic heterogeneity in hereditary and autonomic sensory neuropathy (HSAN4) [abstract]. Society of Human Genetics. 1999"},{"key":"90_CR56","doi-asserted-by":"publisher","first-page":"50","DOI":"10.1016\/0887-8994(94)90091-4","volume":"11","author":"S Rosenberg","year":"1994","unstructured":"Rosenberg S, Nagahashi Marie SK, Kliemann S: Congenital insensitivity to pain with anhidrosis(hereditary sensory and autonomc neuropathy type IV). Pediatr Neurol. 1994, 11: 50-56. 10.1016\/0887-8994(94)90091-4.","journal-title":"Pediatr Neurol"},{"issue":"1","key":"90_CR57","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/S0022-3476(66)80417-1","volume":"68","author":"L Pinsky","year":"1966","unstructured":"Pinsky L, DiGeorge AM: Congenital familial sensory neuropathy with anhidrosis. J Pediatr. 1966, 68 (1): 1-13. 10.1016\/S0022-3476(66)80417-1.","journal-title":"J Pediatr"},{"key":"90_CR58","doi-asserted-by":"publisher","first-page":"124","DOI":"10.1136\/adc.43.227.124","volume":"43","author":"F Vassella","year":"1968","unstructured":"Vassella F, Emrich HM, Kraus-Ruppert R, Aufdermaur F, Tonz O: Congenital sensory neuropathy with anhidrosis. Arch Dis Child. 1968, 43: 124-130.","journal-title":"Arch Dis Child"},{"issue":"5","key":"90_CR59","doi-asserted-by":"publisher","first-page":"243","DOI":"10.1177\/088307389801300511","volume":"13","author":"EA Ismail","year":"1998","unstructured":"Ismail EA, Al-Shammari N, Anim JT, Moosa A: Congenital insensitivity to pain with anhidrosis: lack of eccrine sweat gland innervation confirmed. J Child Neurol. 1998, 13 (5): 243-246.","journal-title":"J Child Neurol"},{"key":"90_CR60","doi-asserted-by":"publisher","first-page":"1596","DOI":"10.1016\/S1388-2457(00)00351-5","volume":"111","author":"M Nolano","year":"2000","unstructured":"Nolano M, Crisci C, Santoro L, Barbieri F, Casale R, Kennedy WR, Wendelschafer-Crabb G, Provitera V, Di Lorenzo N, Caruso G: Absent innervation of skin and sweat glands in congenital insensitivity to pain with anhidrosis. Clin Neurophysiol. 2000, 111: 1596-1601. 10.1016\/S1388-2457(00)00351-5.","journal-title":"Clin Neurophysiol"},{"key":"90_CR61","doi-asserted-by":"publisher","first-page":"670","DOI":"10.1097\/00005072-198011000-00005","volume":"39","author":"HH Goebel","year":"1980","unstructured":"Goebel HH, Veit S, Dyck PJ: Confirmation of virtual unmyelinated fiber absence in hereditary sensory neuropathy type IV. J Neuropathol Exp Neurol. 1980, 39: 670-675.","journal-title":"J Neuropathol Exp Neurol"},{"key":"90_CR62","doi-asserted-by":"publisher","first-page":"199","DOI":"10.1007\/BF00687742","volume":"54","author":"J Langer","year":"1981","unstructured":"Langer J, Goebel HH, Veit S: Eccrine sweat glands are not innervated in hereditary sensory neuropathy type IV. An electron-microscopic study. Acta Neuropathol. 1981, 54: 199-202. 10.1007\/BF00687742.","journal-title":"Acta Neuropathol"},{"key":"90_CR63","doi-asserted-by":"publisher","first-page":"1652","DOI":"10.1212\/WNL.52.8.1652","volume":"52","author":"MJ Hilz","year":"1999","unstructured":"Hilz MJ, Stemper B, Axelrod FB: Sympathetic skin response differentiates hereditary sensory autonomic neuropathies III and IV. Neurology. 1999, 52: 1652-1657.","journal-title":"Neurology"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1750-1172-2-39.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/1750-1172-2-39\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1750-1172-2-39.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,14]],"date-time":"2023-05-14T09:36:52Z","timestamp":1684057012000},"score":1,"resource":{"primary":{"URL":"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/1750-1172-2-39"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,10,3]]},"references-count":63,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2007,12]]}},"alternative-id":["90"],"URL":"https:\/\/doi.org\/10.1186\/1750-1172-2-39","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,10,3]]},"article-number":"39"}}