{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T19:04:39Z","timestamp":1790363079328,"version":"4.1.0"},"reference-count":31,"publisher":"Springer Science and Business Media LLC","issue":"8","license":[{"start":{"date-parts":[[2005,4,2]],"date-time":"2005-04-02T00:00:00Z","timestamp":1112400000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Mol Med"],"published-print":{"date-parts":[[2005,8]]},"DOI":"10.1007\/s00109-005-0656-2","type":"journal-article","created":{"date-parts":[[2005,4,1]],"date-time":"2005-04-01T03:36:25Z","timestamp":1112326585000},"page":"647-654","source":"Crossref","is-referenced-by-count":150,"title":["Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the \u03b1-galactosidase A gene in the Czech and Slovak population"],"prefix":"10.1007","volume":"83","author":[{"given":"Robert","family":"Dobrovolny","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lenka","family":"Dvorakova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jana","family":"Ledvinova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sudheera","family":"Magage","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Bultas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean C.","family":"Lubanda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Milan","family":"Elleder","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Debora","family":"Karetova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marketa","family":"Pavlikova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Hrebicek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2005,4,2]]},"reference":[{"key":"656_CR1","doi-asserted-by":"crossref","first-page":"1163","DOI":"10.1056\/NEJM196705252762101","volume":"276","author":"RO Brady","year":"1967","unstructured":"Brady RO, Gal AE, Bradley RM, Martensson E, Warshaw AL, Laster L (1967) Enzymatic defect in Fabry\u2019s disease. Ceramidetrihexosidase deficiency. N Engl J Med 276:1163\u20131167","journal-title":"N Engl J Med"},{"key":"656_CR2","first-page":"3733","volume-title":"The metabolic and molecular bases of inherited disease","author":"RJ Desnick","year":"2001","unstructured":"Desnick RJ, Ioannou YA, Eng CM (2001) Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 3733\u20133774","edition":"8"},{"key":"656_CR3","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1136\/jmg.38.11.750","volume":"38","author":"KD MacDermot","year":"2001","unstructured":"MacDermot KD, Holmes A, Miners AH (2001) Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet 38:750\u2013760","journal-title":"J Med Genet"},{"key":"656_CR4","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1007\/BF01606034","volume":"417","author":"M Elleder","year":"1990","unstructured":"Elleder M, Bradova V, Smid F, Budesinsky M, Harzer K, Kustermann-Kuhn B, Ledvinova J, Belohlavek, Kral V, Dorazilova V (1990) Cardiocyte storage and hypertrophy as a sole manifestation of Fabry\u2019s disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathy. Virchows Arch A Pathol Anat Histopathol 417:449\u2013455","journal-title":"Virchows Arch A Pathol Anat Histopathol"},{"key":"656_CR5","doi-asserted-by":"crossref","first-page":"1067","DOI":"10.1016\/0046-8177(90)90258-7","volume":"21","author":"K Ogawa","year":"1990","unstructured":"Ogawa K, Sugamata K, Funamoto N, Abe T, Sato T, Nagashima K, Ohkawa S (1990) Restricted accumulation of globotriaosylceramide in the hearts of atypical cases of Fabry\u2019s disease. Human Pathol 21:1067\u20131073","journal-title":"Human Pathol"},{"key":"656_CR6","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1111\/j.1399-0004.1991.tb03018.x","volume":"39","author":"Y Nagao","year":"1991","unstructured":"Nagao Y, Nakashima H, Fukuhara Y, Shimmoto M, Oshima A, Ikari Y, Mori Y, Sakuraba H, Suzuki Y (1991) Hypertrophic cardiomyopathy in late-onset variant of Fabry disease with high residual activity of alpha-galactosidase A. Clin Genet 39:233\u2013237","journal-title":"Clin Genet"},{"key":"656_CR7","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1007\/BF00207037","volume":"89","author":"S Ishii","year":"1992","unstructured":"Ishii S, Sakuraba H, Suzuki Y (1992) Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease. Hum Genet 89:29\u201332","journal-title":"Hum Genet"},{"key":"656_CR8","first-page":"784","volume":"47","author":"H Sakuraba","year":"1990","unstructured":"Sakuraba H, Oshima A, Fukuhara Y, Shimmoto M, Nagao Y, Bishop DF, Desnick RJ, Suzuki Y (1990) Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease. Am J Hum Genet 47:784\u2013789","journal-title":"Am J Hum Genet"},{"key":"656_CR9","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1056\/NEJM199102073240607","volume":"324","author":"W Scheidt von","year":"1991","unstructured":"Scheidt W von, Eng CM, Fitzmaurice TF, Erdmann E, Hubner G, Olsen EG, Christomanou H, Kandolf R, Bishop DF, Desnick RJ (1991) An atypical variant of Fabry\u2019s disease with manifestations confined to the myocardium. N Engl J Med 324:395\u2013399","journal-title":"N Engl J Med"},{"key":"656_CR10","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1016\/S0168-9525(97)01068-8","volume":"13","author":"M Krawczak","year":"1997","unstructured":"Krawczak M, Cooper DN (1997) The human gene mutation database. Trends Genet 13:121\u2013122","journal-title":"Trends Genet"},{"key":"656_CR11","first-page":"125","volume":"37","author":"MF Lyon","year":"1995","unstructured":"Lyon MF (1995) The history of X-chromosome inactivation and relation of recent findings to understanding of human X-linked conditions. Turk J Pediatr 37:125\u2013140","journal-title":"Turk J Pediatr"},{"key":"656_CR12","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1111\/j.1399-0004.2004.00219.x","volume":"65","author":"C Whybra","year":"2004","unstructured":"Whybra C, Kampmann C, Krummenauer F, Ries M, Mengel E, Miebach E, Baehner F, Kim K, Bajbouj M, Schwarting A et al (2004) The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy. Clin Genet 65:299\u2013307","journal-title":"Clin Genet"},{"key":"656_CR13","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1016\/0009-8981(81)90384-3","volume":"112","author":"JS Mayes","year":"1981","unstructured":"Mayes JS, Scheerer JB, Sifers RN, Donaldson ML (1981) Differential assay for lysosomal alpha-galactosidases in human tissues and its application to Fabry\u2019s disease. Clin Chim Acta 112:247\u2013251","journal-title":"Clin Chim Acta"},{"key":"656_CR14","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1016\/0003-2697(87)90021-2","volume":"162","author":"P Chomczynski","year":"1987","unstructured":"Chomczynski P, Sacchi N (1987) Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 162:156\u2013159","journal-title":"Anal Biochem"},{"key":"656_CR15","doi-asserted-by":"crossref","first-page":"1051","DOI":"10.1093\/hmg\/2.7.1051","volume":"2","author":"JP Davies","year":"1993","unstructured":"Davies JP, Winchester BG, Malcolm S (1993) Mutation analysis in patients with the typical form of Anderson-Fabry disease. Hum Mol Genet 2:1051\u20131053","journal-title":"Hum Mol Genet"},{"key":"656_CR16","first-page":"9.8","volume-title":"Current protocols in human genetics","author":"S Little","year":"1998","unstructured":"Little S (1998) Amplification-refractory mutation system (ARMS)\u2013analysis of point mutations. In: Dracopoli NC, Haines JL, Korf BR, Moir DT, Morton CC, Seidman CE, Seidman JG, Smith DR (eds) Current protocols in human genetics. Wiley, New York, p 9.8"},{"key":"656_CR17","doi-asserted-by":"crossref","first-page":"4673","DOI":"10.1093\/nar\/22.22.4673","volume":"22","author":"JD Thompson","year":"1994","unstructured":"Thompson JD, Higgins DG, Gibson TJ (1994) Clustal W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice. Nucleic Acids Res 22:4673\u20134680","journal-title":"Nucleic Acids Res"},{"key":"656_CR18","doi-asserted-by":"crossref","first-page":"319","DOI":"10.1016\/j.jmb.2004.01.035","volume":"337","author":"SC Garman","year":"2004","unstructured":"Garman SC, Garboczi DN (2004) The molecular defect leading to Fabry disease: structure of human alpha-galactosidase. J Mol Biol 337:319\u2013335","journal-title":"J Mol Biol"},{"key":"656_CR19","doi-asserted-by":"crossref","first-page":"2714","DOI":"10.1002\/elps.1150181505","volume":"18","author":"N Guex","year":"1997","unstructured":"Guex N, Peitsch MC (1997) SWISS-MODEL and the Swiss-Pdb viewer: an environment for comparative protein modeling. Electrophoresis 18:2714\u20132723","journal-title":"Electrophoresis"},{"key":"656_CR20","first-page":"1229","volume":"51","author":"RC Allen","year":"1992","unstructured":"Allen RC, Zoghbi HY, Moseley AB, Rosenblatt HM, Belmont JW (1992) Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation. Am J Hum Genet 51:1229\u20131239","journal-title":"Am J Hum Genet"},{"key":"656_CR21","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1006\/bcmd.1998.0213","volume":"24","author":"O Racchi","year":"1998","unstructured":"Racchi O, Mangerini R, Rapezzi D, Rolfo M, Gaetani GF, Ferraris AM (1998) X chromosome inactivation patterns in normal females. Blood Cells Mol Diseases 24:439\u2013447","journal-title":"Blood Cells Mol Diseases"},{"key":"656_CR22","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1016\/j.jsgi.2003.11.002","volume":"11","author":"D Lattuada","year":"2004","unstructured":"Lattuada D, Vigano P, Somigliana E, Odorizzi MP, Vignali M, Di Blasio AM (2004) Androgen receptor gene cytosine, adenine, and guanine trinucleotide repeats in patients with endometriosis. J Soc Gynecol Investig 11:237\u2013240","journal-title":"J Soc Gynecol Investig"},{"key":"656_CR23","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1002\/(SICI)1098-1004(200001)15:1<16::AID-HUMU6>3.0.CO;2-S","volume":"15","author":"RG Cotton","year":"2000","unstructured":"Cotton RG, Horaitis O (2000) Quality control in the discovery, reporting, and recording of genomic variation. Human Mutat 15:16\u201321","journal-title":"Human Mutat"},{"key":"656_CR24","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1016\/S1096-7192(02)00151-8","volume":"77","author":"S Garman","year":"2002","unstructured":"Garman S, Garboczi D (2002) Structural basis of Fabry disease. Mol Genet Metab 77:3\u201311","journal-title":"Mol Genet Metab"},{"key":"656_CR25","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1016\/S1096-7192(03)00136-7","volume":"80","author":"R Froissart","year":"2003","unstructured":"Froissart R, Guffon N, Vanier MT, Desnick RJ, Maire I (2003) Fabry disease: D313Y is an alpha-galactosidase A sequence variant that causes pseudodeficient activity in plasma. Mol Genet Metab 80:307\u2013314","journal-title":"Mol Genet Metab"},{"key":"656_CR26","doi-asserted-by":"crossref","unstructured":"Dobrovoln\u00fd R, Dvo\u0159\u00e1kov\u00e1 L, Ledvinov\u00e1 J, Magage S, Bultas J, Lubanda JC, Poup\u011btov\u00e1 H, Elleder M, Karetov\u00e1 D, H\u0159eb\u00ed\u010dek M (2005) Recurrence of Fabry disease as a result of paternal germline mosaicism for alpha-galactosidase A gene mutation. Am J Med Genet (in press)","DOI":"10.1002\/ajmg.a.30533"},{"key":"656_CR27","volume-title":"Human molecular genetics, vol 2","author":"T Strachan","year":"1999","unstructured":"Strachan T, Read AP (1999) Human molecular genetics, vol 2. Wiley-Liss, New York"},{"key":"656_CR28","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1016\/0092-8674(84)90081-3","volume":"36","author":"D Barker","year":"1984","unstructured":"Barker D, Schafer M, White R (1984) Restriction sites containing CpG show a higher frequency of polymorphism in human DNA. Cell 36:131\u2013138","journal-title":"Cell"},{"key":"656_CR29","first-page":"358","volume-title":"The metabolic and molecular bases of inherited diseases","author":"SE Antonarakis","year":"2001","unstructured":"Antonarakis SE, Krawczak M, Cooper DN (2001) The nature and mechanism of human mutation. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular bases of inherited diseases, 8th edn. McGraw-Hill, New York, pp 358\u2013360","edition":"8"},{"key":"656_CR30","doi-asserted-by":"crossref","first-page":"682","DOI":"10.1136\/jmg.33.8.682","volume":"33","author":"I Redonnet-Vernhet","year":"1996","unstructured":"Redonnet-Vernhet I, Ploos van Amstel JK, Jansen RP, Wevers RA, Salvayre R, Levade T (1996) Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene. J Med Genet 33:682\u2013688","journal-title":"J Med Genet"},{"issue":"Supplement","key":"656_CR31","first-page":"421","volume":"71","author":"A Morrone","year":"2002","unstructured":"Morrone A, Cavicchi C, Bardelli T, Antuzzi D, Rigante D, Parini R, Di Rocco M, Feriozzi S, Gabrielli O, Barone L et al (2002) Mutation analysis and X-inactivation studies in the alpha-galactosidase A gene. Am J Hum Genet 71:421","journal-title":"Am J Hum Genet"}],"container-title":["Journal of Molecular Medicine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00109-005-0656-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/s00109-005-0656-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/s00109-005-0656-2","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,5,23]],"date-time":"2019-05-23T00:28:32Z","timestamp":1558571312000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/s00109-005-0656-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,4,2]]},"references-count":31,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2005,8]]}},"alternative-id":["656"],"URL":"https:\/\/doi.org\/10.1007\/s00109-005-0656-2","relation":{},"ISSN":["0946-2716","1432-1440"],"issn-type":[{"value":"0946-2716","type":"print"},{"value":"1432-1440","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,4,2]]}}}