{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T10:52:45Z","timestamp":1790679165271,"version":"4.1.0"},"reference-count":38,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2001,11,1]],"date-time":"2001-11-01T00:00:00Z","timestamp":1004572800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2001,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Anderson\u2013Fabry disease is a rare, X\u2010chromosomal lipid storage disorder caused by a deficiency of lysosomal \u03b1\u2010galactosidase A. Clinical manifestations of Anderson\u2013Fabry disease include excruciating pain in the extremities (acroparaesthesia), skin vessel ectasia (angiokeratoma), corneal and lenticular opacity, cardiovascular disease, stroke and renal failure, only renal failure being a frequent cause of death. Heterozygote female carriers have often been reported as being asymptomatic or having an attenuated form of the disease. To evaluate the spectrum of clinical signs in heterozygotes, a comprehensive clinical examination was performed on 20 carriers of Anderson\u2013Fabry disease. This revealed that, in addition to the skin manifestation, various other clinical manifestations of the disease are present, including acroparaesthesia, kidney dysfunction, cerebrovascular disease, and gastrointestinal and heart problems. It therefore appears that Anderson\u2013Fabry disease affects both hemizygotes and heterozyotes and therefore should be considered to be an X\u2010linked dominant disease.<\/jats:p>","DOI":"10.1023\/a:1012993305223","type":"journal-article","created":{"date-parts":[[2002,12,23]],"date-time":"2002-12-23T15:14:19Z","timestamp":1040656459000},"page":"715-724","source":"Crossref","is-referenced-by-count":208,"title":["Anderson\u2013Fabry disease: Clinical manifestations of disease in female heterozygotes"],"prefix":"10.1002","volume":"24","author":[{"given":"C.","family":"Whybra","sequence":"first","affiliation":[{"name":"Children's Hospital University of Mainz  Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chr.","family":"Kampmann","sequence":"additional","affiliation":[{"name":"Children's Hospital University of Mainz  Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"Willers","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University Hospital Hamburg\u2010Eppendorf  Hamburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Davies","sequence":"additional","affiliation":[{"name":"Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health at Great Ormond Street Hospital University College  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Winchester","sequence":"additional","affiliation":[{"name":"Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health at Great Ormond Street Hospital University College  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Kriegsmann","sequence":"additional","affiliation":[{"name":"Institute of Pathology University of Mainz  Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Br\u00fchl","sequence":"additional","affiliation":[{"name":"Institute of Neuroradiology University of Mainz  Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Gal","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University Hospital Hamburg\u2010Eppendorf  Hamburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Bunge","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics University Hospital Hamburg\u2010Eppendorf  Hamburg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Beck","sequence":"additional","affiliation":[{"name":"Children's Hospital University of Mainz  Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2001,11]]},"reference":[{"issue":"33","key":"e_1_2_1_2_1","first-page":"1190","article-title":"Beitrag zur Fabryschen Krankheit","volume":"110","author":"Beck G","year":"1980","journal-title":"Schweiz Med Wochenschr"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410040610"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.85.11.3903"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1067-2389(96)80036-7"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(67)90027-7"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/00000433-199503000-00004"},{"issue":"4","key":"e_1_2_1_8_1","first-page":"649","article-title":"Fabry's disease in a female carrier with bilateral thalamic infarcts: a case report and a family study","volume":"112","author":"Castro LH","year":"1994","journal-title":"Rev Paul Med"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1159\/000169035"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1086\/318809"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V96.13.4373"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/0272-6386(95)90061-6"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.2190\/JKFW-3WXK-QA7N-BYLN"},{"issue":"1","key":"e_1_2_1_14_1","first-page":"36","article-title":"Cerebrovascular manifestations in a female carrier of Fabry's disease","volume":"92","author":"Grewal RP","year":"1992","journal-title":"Acta Neurol Belg"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.27.5.303"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990219)82:5<436::AID-AJMG14>3.0.CO;2-X"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1253\/jcj.63.572"},{"issue":"3","key":"e_1_2_1_18_1","first-page":"191","article-title":"Early acroparesthesia in females: a sign disclosing heterozygote Anderson Fabry disease","volume":"118","author":"Larregue M","year":"1991","journal-title":"Ann Dermatol Venereol"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002469900452"},{"issue":"11","key":"e_1_2_1_20_1","first-page":"1189","article-title":"A case of Fabry's disease associated with lupus nephritis","volume":"34","author":"Majima K","year":"1992","journal-title":"Nippon Jinzo Gakkai Shi"},{"issue":"277","key":"e_1_2_1_21_1","first-page":"491","article-title":"The neurological complications of Anderson Fabry disease (alpha\u2010galactosidase A deficiency) investigation of symptomatic and presymptomatic patients","volume":"75","author":"Morgan SH","year":"1990","journal-title":"Q J Med"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.2169\/internalmedicine.38.476"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199508033330504"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1540-8159.1999.tb00584.x"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.8.682"},{"issue":"1","key":"e_1_2_1_26_1","first-page":"89","article-title":"Fabry's disease in a heterozygous woman","volume":"109","author":"Rodriguez FH","year":"1985","journal-title":"Arch Pathol Lab Med"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1159\/000183006"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.97.1.365"},{"key":"e_1_2_1_29_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390000382"},{"key":"e_1_2_1_30_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1979.01020010327008"},{"key":"e_1_2_1_31_1","first-page":"73","article-title":"Coexistence of Fabry's disease and necrotizing and crescentic glomerulonephritis","volume":"55","author":"Singh HK","year":"2001","journal-title":"Clin Nephrol"},{"key":"e_1_2_1_32_1","doi-asserted-by":"publisher","DOI":"10.1159\/000169023"},{"key":"e_1_2_1_33_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00216154"},{"issue":"5","key":"e_1_2_1_34_1","doi-asserted-by":"crossref","first-page":"363","DOI":"10.2340\/000155555363366","article-title":"On the diagnosis of Fabry's disease","volume":"55","author":"Wadskov S","year":"1975","journal-title":"Acta Derm Venereol"},{"issue":"1","key":"e_1_2_1_35_1","first-page":"61","article-title":"The ultrastructural changes in renal biopsy compatible with Fabry's disease. Case report","volume":"50","author":"Wagrowska\u2010Danilewicz M","year":"1999","journal-title":"Pol J Pathol"},{"key":"e_1_2_1_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(19)44007-6"},{"issue":"11","key":"e_1_2_1_37_1","first-page":"1303","article-title":"Fabry\u2010like laminated myelin body associated with IgA nephropathy","volume":"36","author":"Yoshida A","year":"1994","journal-title":"Nippon Jinzo Gakkai Shi"},{"key":"e_1_2_1_38_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1998.tb02655.x"},{"key":"e_1_2_1_39_1","doi-asserted-by":"publisher","DOI":"10.1159\/000190301"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1023%2FA%3A1012993305223","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1023\/A%3A1012993305223","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T22:06:24Z","timestamp":1694815584000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1023\/A%3A1012993305223"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,11]]},"references-count":38,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2001,11]]}},"alternative-id":["10.1023\/A:1012993305223"],"URL":"https:\/\/doi.org\/10.1023\/a:1012993305223","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001,11]]}}}