{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T17:22:53Z","timestamp":1787764973036,"version":"build-2784847793"},"reference-count":26,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2017,8,1]],"date-time":"2017-08-01T00:00:00Z","timestamp":1501545600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,10]]},"abstract":"<jats:sec><jats:label\/><jats:p>Pompe disease (Glycogen storage disease type II, GSDII, or acid maltase deficiency) is an autosomal recessive metabolic myopathy with a broad clinical spectrum, ranging from infantile to late\u2010onset presentations. In 2015, Pompe disease was added as a core condition to the Recommended Uniform Screening Panel for state newborn screening (NBS). The clinical importance of Pompe disease is evolving with the use of NBS, increasing awareness of the disease, and higher than previously reported disease prevalence; however, current practices miss additional diagnostic and potential treatment opportunities in close relatives of the family proband. In this report, we describe three families with multiple individuals in multiple generations affected by both infantile and late\u2010onset clinical presentations of Pompe disease. The presence of multi\u2010generational disease within these families highlights the importance of subsequent risk assessment through medical history and physical examination, with a low threshold for the screening of a proband's family members. We recommend enzymology (GAA activity assay) as the first screening method, as opposed to targeted mutation analysis, for at\u2010risk family members. Given that the initial symptoms of the slowly progressive late\u2010onset presentation of Pompe disease may be mild or non\u2010specific, enzymatic testing of all parents of affected infants should be considered.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38369","type":"journal-article","created":{"date-parts":[[2017,8,1]],"date-time":"2017-08-01T13:44:37Z","timestamp":1501595077000},"page":"2628-2634","source":"Crossref","is-referenced-by-count":3,"title":["Three cases of multi\u2010generational Pompe disease: Are current practices missing diagnostic and treatment opportunities?"],"prefix":"10.1002","volume":"173","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1111-5116","authenticated-orcid":false,"given":"Paul","family":"McIntosh","sequence":"first","affiliation":[{"name":"Duke University Medical Center Durham North Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Austin","sequence":"additional","affiliation":[{"name":"Duke University Medical Center Durham North Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Sullivan","sequence":"additional","affiliation":[{"name":"Duke University Medical Center Durham North Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren","family":"Bailey","sequence":"additional","affiliation":[{"name":"Duke University Medical Center Durham North Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carrie","family":"Bailey","sequence":"additional","affiliation":[{"name":"University of Utah Salt Lake City Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Viskochil","sequence":"additional","affiliation":[{"name":"University of Utah Salt Lake City Utah"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Priya S.","family":"Kishnani","sequence":"additional","affiliation":[{"name":"Duke University Medical Center Durham North Carolina"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,8]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12883-015-0412-3"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2005.00557.x"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(00)00123-1"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200367"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880160614"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.29.3.415"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2014.10.068"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2010.11.053"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.22329"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.36.6.818"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj0860011"},{"key":"e_1_2_8_13_1","first-page":"45","article-title":"Adult and infantile glycogenosis type II in one family, explained by allelic diversity","volume":"46","author":"Hoefsloot L. 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