{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T16:00:33Z","timestamp":1791216033876,"version":"4.1.0"},"reference-count":78,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2019,6,6]],"date-time":"2019-06-06T00:00:00Z","timestamp":1559779200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2019,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Fabry disease (FD), a rare X\u2010linked disease, can be treated with bi\u2010monthly infusion of enzyme replacement therapy (ERT) to replace deficient \u03b1\u2010galactosidase A (AGAL\u2010A). ERT reduces symptoms, improves quality of life (QoL), and improves clinical signs and biochemical markers. ERT initiation in childhood could slow or stop progressive organ damage. Preventative treatment of FD from childhood is thought to avoid organ damage in later life, prompting a French expert working group to collaborate and produce recommendations for treating and monitoring children with FD. Organ involvement should be assessed by age 5 for asymptomatic boys (age 12\u201015 for asymptomatic girls), and immediately for children diagnosed via symptoms. The renal, cardiac, nervous and gastrointestinal systems should be assessed, as well as bone, skin, eyes, hearing, and QoL. The plasma biomarker globotriaosylsphingosine is also useful. ERT should be considered for symptomatic boys and girls with neuropathic pain, pathological albuminuria (\u22653 mg\/mmol creatinine), severe GI involvement and abdominal pain or cardiac involvement. ERT should be considered for asymptomatic boys from the age of 7. Organ involvement should be treated as needed. Early diagnosis and management of FD represents a promising strategy to reduce organ damage, morbidity and premature mortality in adulthood.<\/jats:p>","DOI":"10.1111\/cge.13546","type":"journal-article","created":{"date-parts":[[2019,4,3]],"date-time":"2019-04-03T01:24:45Z","timestamp":1554254685000},"page":"107-117","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":155,"title":["Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients"],"prefix":"10.1111","volume":"96","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8355-007X","authenticated-orcid":false,"given":"Dominique P.","family":"Germain","sequence":"first","affiliation":[{"name":"Division of Medical Genetics University of Versailles  Montigny France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alain","family":"Fouilhoux","sequence":"additional","affiliation":[{"name":"Metabolic Diseases Unit HFME University Hospital Lyon  Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phane","family":"Decramer","sequence":"additional","affiliation":[{"name":"Paediatric Department, Inserm U1048 Toulouse University Hospital  Toulouse France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marine","family":"Tardieu","sequence":"additional","affiliation":[{"name":"Paediatric Department Tours University Hospital  Toulouse France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascal","family":"Pillet","sequence":"additional","affiliation":[{"name":"Paediatric Department Bordeaux University Hospital Pellegrin  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"Fila","sequence":"additional","affiliation":[{"name":"Department of Paediatric Nephrology\u2014Montpellier University Arnaud de Villeneuve Hospital  Montpellier France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serge","family":"Rivera","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology Bayonne Hospital  Bayonne France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georges","family":"Desch\u00eanes","sequence":"additional","affiliation":[{"name":"Department of Paediatric Nephrology Paris University Hospital Robert Debr\u00e9  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Didier","family":"Lacombe","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, CHU Bordeaux INSERM U1211 Universit\u00e9 de Bordeaux  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,6,6]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196705252762101"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.11.769"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.11.750"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-003-1299-3"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0036-1584357"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-5-30"},{"key":"e_1_2_11_8_1","article-title":"Fabry disease in cardiology practice: literature review and expert point of view","volume":"112","author":"Hag\u00e8ge A","journal-title":"Arch Cardiovasc Dis"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-007-0616-9"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-3-10"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.CIR.0000012626.81324.38"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199102073240607"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199508033330504"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1523-1755.2003.00160.x"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1203\/PDR.0b013e318183f132"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2006.tb02186.x"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2362.2004.01309.x"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1999.0310"},{"key":"e_1_2_11_19_1","volume-title":"The Online Metabolic and Molecular Bases of Inherited Disease","author":"Desnick RJ","year":"2014"},{"key":"e_1_2_11_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12613"},{"key":"e_1_2_11_21_1","volume-title":"Agalsidase Alpha Summary of Product Characteristics","author":"Shire Human Genetic Therapies AB","year":"2001"},{"key":"e_1_2_11_22_1","volume-title":"Agalsidase Beta Summary of Product Characteristics","author":"Genzyme Europe B.V","year":"2001"},{"key":"e_1_2_11_23_1","first-page":"Cd006663","article-title":"Enzyme replacement therapy for Anderson\u2010Fabry disease","volume":"7","author":"El Dib R","year":"2016","journal-title":"Cochrane Database Syst Rev"},{"key":"e_1_2_11_24_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0173358"},{"key":"e_1_2_11_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2007.09.007"},{"key":"e_1_2_11_26_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2012030316"},{"key":"e_1_2_11_27_1","doi-asserted-by":"publisher","DOI":"10.2147\/DDDT.S102761"},{"key":"e_1_2_11_28_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2007.00029.x"},{"key":"e_1_2_11_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cgh.2007.08.012"},{"key":"e_1_2_11_30_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2012.01947.x"},{"key":"e_1_2_11_31_1","article-title":"The effect of enzyme replacement therapy on clinical outcomes in paediatric patients with Fabry disease\u2014a systematic literature review by a European panel of experts","author":"Spada M","year":"2018","journal-title":"Mol Genet Metab"},{"key":"e_1_2_11_32_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2014-102797"},{"key":"e_1_2_11_33_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-7-91"},{"issue":"1","key":"e_1_2_11_34_1","first-page":"S111","article-title":"Pharmacological chaperone therapy by active\u2010site\u2010specific chaperones in Fabry disease: in vitro and preclinical studies","volume":"47","author":"Germain DP","year":"2009","journal-title":"Int J Clin Pharmacol Ther"},{"key":"e_1_2_11_35_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1510198"},{"key":"e_1_2_11_36_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.gim.0000237866.70357.c6"},{"key":"e_1_2_11_37_1","unstructured":"Haute Autorit\u00e9 de Sant\u00e9 (HAS). Fabry Disease: national protocol for diagnosis and care.2010.https:\/\/www.has-sante.fr\/portail\/upload\/docs\/application\/pdf\/2010-12\/ald_17_pnds_fabry_vd.pdf. Accessed August 24 2018."},{"key":"e_1_2_11_38_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-015-0253-6"},{"key":"e_1_2_11_39_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2015.10.007"},{"key":"e_1_2_11_40_1","doi-asserted-by":"publisher","DOI":"10.1086\/504601"},{"key":"e_1_2_11_41_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2017.06.048"},{"key":"e_1_2_11_42_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.281.3.249"},{"key":"e_1_2_11_43_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004399900075"},{"key":"e_1_2_11_44_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijns3020006"},{"key":"e_1_2_11_45_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050292"},{"key":"e_1_2_11_46_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.26"},{"key":"e_1_2_11_47_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.2009.176651"},{"key":"e_1_2_11_48_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-017-0051-5"},{"key":"e_1_2_11_49_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-009-1290-x"},{"key":"e_1_2_11_50_1","doi-asserted-by":"publisher","DOI":"10.1097\/AJP.0000000000000041"},{"key":"e_1_2_11_51_1","doi-asserted-by":"publisher","DOI":"10.1111\/cns.12542"},{"key":"e_1_2_11_52_1","doi-asserted-by":"publisher","DOI":"10.1177\/1941738117692533"},{"key":"e_1_2_11_53_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.120"},{"key":"e_1_2_11_54_1","doi-asserted-by":"publisher","DOI":"10.2174\/13816128113199990345"},{"key":"e_1_2_11_55_1","unstructured":"Haute Autorit\u00e9 de sant\u00e9 (HAS). Annoncer une mauvaise nouvelle.2008.https:\/\/www.has-sante.fr\/portail\/upload\/docs\/application\/pdf\/2008-10\/mauvaisenouvelle_vf.pdf. Accessed August 2018."},{"key":"e_1_2_11_56_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-319-76148-0_1"},{"key":"e_1_2_11_57_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2016.09.943"},{"key":"e_1_2_11_58_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-012-2222-9"},{"key":"e_1_2_11_59_1","doi-asserted-by":"publisher","DOI":"10.1159\/000369309"},{"issue":"5","key":"e_1_2_11_60_1","first-page":"807","article-title":"Reaccumulation of globotriaosylceramide in podocytes after agalsidase dose reduction in young Fabry patients","volume":"32","author":"Skrunes R","year":"2017","journal-title":"Nephrol Dial Transplant"},{"key":"e_1_2_11_61_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-018-4006-3"},{"key":"e_1_2_11_62_1","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2008030287"},{"key":"e_1_2_11_63_1","doi-asserted-by":"publisher","DOI":"10.2215\/CJN.07870812"},{"key":"e_1_2_11_64_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.echo.2015.12.011"},{"key":"e_1_2_11_65_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2014.09.001"},{"key":"e_1_2_11_66_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00216-005-3239-8"},{"key":"e_1_2_11_67_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2019.100454"},{"key":"e_1_2_11_68_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0447-8"},{"key":"e_1_2_11_69_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2016.10.006"},{"key":"e_1_2_11_70_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10157-017-1525-3"},{"key":"e_1_2_11_71_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.12.006"},{"key":"e_1_2_11_72_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2005.00457.x"},{"key":"e_1_2_11_73_1","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfq306"},{"key":"e_1_2_11_74_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_11_75_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2014.11.004"},{"key":"e_1_2_11_76_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2012_167"},{"key":"e_1_2_11_77_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1096-7192(03)00136-7"},{"key":"e_1_2_11_78_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.32297"},{"key":"e_1_2_11_79_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2018.02.014"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13546","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/cge.13546","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13546","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,8]],"date-time":"2023-09-08T01:19:24Z","timestamp":1694135964000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.13546"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,6,6]]},"references-count":78,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2019,8]]}},"alternative-id":["10.1111\/cge.13546"],"URL":"https:\/\/doi.org\/10.1111\/cge.13546","archive":["Portico"],"relation":{"has-review":[{"id-type":"doi","id":"10.1111\/CGE.13546\/v1\/review1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13546\/v1\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13546\/v1\/review3","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13546\/v2\/response1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13546\/v1\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13546\/v2\/review2","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13546\/v2\/decision1","asserted-by":"object"},{"id-type":"doi","id":"10.1111\/CGE.13546\/v2\/review1","asserted-by":"object"}]},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,6,6]]},"assertion":[{"value":"2019-01-07","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-03-25","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-06-06","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}