{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T07:44:27Z","timestamp":1788335067542,"version":"build-2803163510"},"reference-count":26,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2010,9,30]],"date-time":"2010-09-30T00:00:00Z","timestamp":1285804800000},"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":[[2010,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Pompe disease is a rare lysosomal glycogen storage disorder characterized by deficiency of acid \u03b1\u2010glucosidase enzyme (GAA) and caused by mutations in the <jats:italic>GAA<\/jats:italic> gene. Infantile\u2010type Pompe disease is a multiorgan disorder presenting with cardiomyopathy, hypotonia, and muscular weakness, which is usually fatal. Enzyme replacement therapy (ERT) with recombinant human GAA (rhGAA) has recently been shown to be effective and subsequently yielded promising results in cross\u2010reactive immunologic material (CRIM)\u2010positive patients. CRIM\u2010negative patients showed a limited response to ERT and died or were ventilator dependant. Over a period of 44 months, we monitored cognitive and motor development, behavior, auditory function, and brain imaging of a CRIM\u2010negative infantile Pompe disease patient on rhGAA and monoclonal anti\u2010immunoglobulin E (anti\u2010IgE) antibody (omalizumab) treatment due to severe allergic reaction. Cardiorespiratory and skeletal muscle response was significant, with almost normal motor development. Cognitive development\u2014in particular, speech and language\u2014deviated increasingly from normal age\u2010appropriate development and was markedly delayed at 44 months, unexplained by moderate sensorineural hearing impairment. Brain magnetic resonance imaging (MRI) at 18, 30, and 44 months of age revealed symmetrical signal alteration of the deep white matter. Titer values of IgG antibodies to rhGAA always remained &lt;1:800. The potential role of omalizumab in immune modulation remains to be elucidated; however, this is the first report presenting a ventilator\u2010free survival of a CRIM\u2010negative patient beyond the age of 36 months. The central nervous system (CNS) findings are hypothesized to be part of a yet not fully described CNS phenotype in treated patients with longer survival.<\/jats:p>","DOI":"10.1007\/s10545-010-9209-0","type":"journal-article","created":{"date-parts":[[2010,9,29]],"date-time":"2010-09-29T08:34:06Z","timestamp":1285749246000},"page":"751-757","source":"Crossref","is-referenced-by-count":71,"title":["CRIM\u2010negative infantile Pompe disease: 42\u2010month treatment outcome"],"prefix":"10.1002","volume":"33","author":[{"given":"Marianne","family":"Rohrbach","sequence":"first","affiliation":[{"name":"Division of Metabolism University Children's Hospital Z\u00fcrich Steinwiesstrasse 75 Z\u00fcrich 8032 Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Klein","sequence":"additional","affiliation":[{"name":"Division of Neurology University Children's Hospital Z\u00fcrich Z\u00fcrich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice","family":"K\u00f6hli\u2010Wiesner","sequence":"additional","affiliation":[{"name":"Division of Allergy University Children's Hospital Z\u00fcrich Z\u00fcrich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorothe","family":"Veraguth","sequence":"additional","affiliation":[{"name":"Division of Otorhinolaryngology University Children's Hospital Z\u00fcrich Z\u00fcrich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ianina","family":"Scheer","sequence":"additional","affiliation":[{"name":"Division of Radiology University Children's Hospital Z\u00fcrich Z\u00fcrich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Balmer","sequence":"additional","affiliation":[{"name":"Division of Cardiology University Children's Hospital Z\u00fcrich Z\u00fcrich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roger","family":"Lauener","sequence":"additional","affiliation":[{"name":"Division of Allergy University Children's Hospital Z\u00fcrich Z\u00fcrich Switzerland"},{"name":"Christine K\u00fchne\u2010Center for Allergy Research and Education, Hochgebirgsklinik Davos University Children's Hospital Z\u00fcrich Z\u00fcrich Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias R.","family":"Baumgartner","sequence":"additional","affiliation":[{"name":"Division of Metabolism University Children's Hospital Z\u00fcrich Steinwiesstrasse 75 Z\u00fcrich 8032 Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,9,30]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200103000-00008"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2010.02.006"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.807"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1203\/01.pdr.0000233014.84318.4e"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2007-2222"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.26.5.422"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.23.1.95"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-197107000-00008"},{"key":"e_1_2_4_10_1","first-page":"3380","volume-title":"The metabolic and molecular bases of inherited disease","author":"Hirschhorn R","year":"2001"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2003.12.018"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2004.01.053"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2005.11.033"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2006.02.035"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000251268.41188.04"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2009.08.003"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2004.10.009"},{"key":"e_1_2_4_18_1","first-page":"321","article-title":"Cerebral MR manifestations of Pompe disease in an infant","volume":"17","author":"Lee CC","year":"1996","journal-title":"AJNR Am J Neuroradiol"},{"key":"e_1_2_4_19_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-196501000-00008"},{"key":"e_1_2_4_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00687878"},{"key":"e_1_2_4_21_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMc0806809"},{"key":"e_1_2_4_22_1","first-page":"147","article-title":"Language and speech function in children with infanitle Pompe disease","volume":"7","author":"Muller C","year":"2009","journal-title":"J Pediatr Neurol"},{"key":"e_1_2_4_23_1","first-page":"829","article-title":"Glycogenosis type II (Pompe). 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