{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T02:21:20Z","timestamp":1790043680423,"version":"4.0.1"},"reference-count":35,"publisher":"American Academy of Pediatrics (AAP)","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2008,12,1]]},"abstract":"<jats:p>OBJECTIVE. The goal was to analyze the clinical responses to enzyme replacement therapy with alglucerase or imiglucerase in a large international cohort of children with Gaucher disease type 1.<\/jats:p>\n               <jats:p>METHODS. Anonymized data from 884 children in the International Collaborative Gaucher Group Gaucher Registry were analyzed to determine the effects of long-term enzyme replacement therapy with alglucerase or imiglucerase on hematologic and visceral manifestations, linear growth, and skeletal disease. The parameters measured were hemoglobin levels, platelet counts, spleen and liver volumes, z scores for height and bone mineral density, and reports of bone pain and bone crises.<\/jats:p>\n               <jats:p>RESULTS. The median height z score for the study population was \u22121.4 at baseline. After 8 years of treatment, the median height approximated the median value for the normal population. Anemia, although not severe, was present in &amp;gt;50% of patients at baseline and resolved for all patients after 8 years of treatment. More than 50% of patients had platelet counts of &amp;lt;100000 platelets per mm3 at baseline, but &amp;gt;95% had platelet counts above this level after 8 years of treatment. Liver and spleen volumes decreased over 8 years of treatment. The mean bone mineral density z score was \u22120.34 at baseline, and values normalized within 6.6 years of treatment. Seventeen percent of patients reported a bone crisis before treatment and in the first 2 years of treatment, but no bone crises were reported after 2 years of enzyme replacement therapy. Few patients (2.5%) without bone crises before enzyme replacement therapy had a crisis after the start of treatment.<\/jats:p>\n               <jats:p>CONCLUSIONS. These longitudinal data quantitate the benefits of continuous enzyme replacement therapy with alglucerase\/imiglucerase for children with Gaucher disease type 1. Within 8 years of enzyme replacement therapy, most clinical parameters studied became normal or nearly normal.<\/jats:p>","DOI":"10.1542\/peds.2007-2144","type":"journal-article","created":{"date-parts":[[2008,12,1]],"date-time":"2008-12-01T14:23:01Z","timestamp":1228141381000},"page":"1182-1190","source":"Crossref","is-referenced-by-count":135,"title":["Eight-Year Clinical Outcomes of Long-Term Enzyme Replacement Therapy for 884 Children With Gaucher Disease Type 1"],"prefix":"10.1542","volume":"122","author":[{"given":"Hans","family":"Andersson","sequence":"first","affiliation":[{"name":"Hayward Genetics Center, Tulane University Medical School, New Orleans, Louisiana"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paige","family":"Kaplan","sequence":"additional","affiliation":[{"name":"Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine","family":"Kacena","sequence":"additional","affiliation":[{"name":"Genzyme Corp, Cambridge, Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Yee","sequence":"additional","affiliation":[{"name":"Genzyme Corp, Cambridge, Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"417","published-online":{"date-parts":[[2008,12,1]]},"reference":[{"key":"2021120822314714400_R1","doi-asserted-by":"crossref","unstructured":"Charrow J, Andersson HC, Kaplan P, et al. Enzyme replacement therapy and monitoring for children with type 1 Gaucher disease: consensus recommendations. J Pediatr.\u20082004;144(1):112\u2013120","DOI":"10.1016\/j.jpeds.2003.10.067"},{"key":"2021120822314714400_R2","doi-asserted-by":"crossref","unstructured":"Kaplan P, Andersson HC, Kacena KA, Yee JD. The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis. Arch Pediatr Adolesc Med.\u20082006;160(6):603\u2013608","DOI":"10.1001\/archpedi.160.6.603"},{"key":"2021120822314714400_R3","unstructured":"Beutler E, Grabowski GA. Gaucher disease. In: Scriver CR, Beaudet AL, Sly WS, et al, eds. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York, NY: McGraw-Hill; 2001:3635\u20133668"},{"key":"2021120822314714400_R4","doi-asserted-by":"crossref","unstructured":"Charrow J, Andersson HC, Kaplan P, et al. The Gaucher Registry: demographics and disease characteristics of 1698 patients with Gaucher disease. Arch Intern Med.\u20082000;160(18):2835\u20132843","DOI":"10.1001\/archinte.160.18.2835"},{"key":"2021120822314714400_R5","doi-asserted-by":"crossref","unstructured":"Cox TM. Gaucher's disease: an exemplary monogenic disorder. QJM.\u20082001;94(8):399\u2013402","DOI":"10.1093\/qjmed\/94.8.399"},{"key":"2021120822314714400_R6","doi-asserted-by":"crossref","unstructured":"Brady RO. Gaucher's disease: past, present and future. Ballieres Clin Haematol.\u20081997;10(4):621\u2013634","DOI":"10.1016\/S0950-3536(97)80031-5"},{"key":"2021120822314714400_R7","doi-asserted-by":"crossref","unstructured":"Elstein D, Abrahamov A, Dweck A, Hadas-Halpern I, Zimran A. Gaucher disease: pediatric concerns. Paediatr Drugs.\u20082002;4(7):417\u2013426","DOI":"10.2165\/00128072-200204070-00001"},{"key":"2021120822314714400_R8","unstructured":"Zevin S, Abrahamov A, Hadas-Halpern I, et al. Adult-type Gaucher disease in children: genetics, clinical features and enzyme replacement therapy. Q J Med.\u20081993;86(9):565\u2013573"},{"key":"2021120822314714400_R9","doi-asserted-by":"crossref","unstructured":"Kaplan P, Mazur A, Manor O, et al. Acceleration of retarded growth in children with Gaucher disease after treatment with alglucerase. J Pediatr.\u20081996;129(1):149\u2013153","DOI":"10.1016\/S0022-3476(96)70203-2"},{"key":"2021120822314714400_R10","unstructured":"Kauli R, Zaizov R, Lazar L, et al. Delayed growth and puberty in patients with Gaucher disease type 1: natural history and effect of splenectomy and\/or enzyme replacement therapy. Isr Med Assoc J.\u20082000;2(2):158\u2013163"},{"key":"2021120822314714400_R11","doi-asserted-by":"crossref","unstructured":"Bembi B, Acosti E, Boehm P, Nassimbeni G, Zanatta M, Vidoni L. Aminohydroxypropylidene-biphosphonate in the treatment of bone lesions in a case of Gaucher's disease type 3. Acta Paediatr.\u20081994;83(1):122\u2013124","DOI":"10.1111\/j.1651-2227.1994.tb12968.x"},{"key":"2021120822314714400_R12","doi-asserted-by":"crossref","unstructured":"Ida H, Rennert OM, Kobayashi M, Eto Y. Effects of enzyme replacement therapy in thirteen Japanese paediatric patients with Gaucher disease. Eur J Pediatr.\u20082001;160(1):21\u201325","DOI":"10.1007\/PL00008411"},{"key":"2021120822314714400_R13","doi-asserted-by":"crossref","unstructured":"Versteegh C, Avni F, Cuvelier P, Ferster A. Persistence of pulmonary lesions in a 6-year-old boy with type I Gaucher's disease treated by alglucerase since the age of 20 months. Arch Pediatr.\u20081998;5(12):1341\u20131343","DOI":"10.1016\/S0929-693X(99)80053-0"},{"key":"2021120822314714400_R14","doi-asserted-by":"crossref","unstructured":"Hill SC, Parker CC, Brady RO, Barton NW. MRI of multiple platyspondyly in Gaucher disease: response to enzyme replacement therapy. J Comput Assist Tomogr.\u20081993;17(5):806\u2013809","DOI":"10.1097\/00004728-199309000-00026"},{"key":"2021120822314714400_R15","doi-asserted-by":"crossref","unstructured":"Grabowski GA, Andria G, Baldellou A, et al. Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment: consensus statements. Eur J Pediatr.\u20082004;163(2):58\u201366","DOI":"10.1007\/s00431-003-1362-0"},{"key":"2021120822314714400_R16","doi-asserted-by":"crossref","unstructured":"Grabowski GA, Barton NW, Pastores G, et al. Enzyme therapy in type 1 Gaucher disease: comparative efficacy of mannose-terminated glucocerebrosidase from natural and recombinant sources. Ann Intern Med.\u20081995;122(1):33\u201339","DOI":"10.7326\/0003-4819-122-1-199501010-00005"},{"key":"2021120822314714400_R17","doi-asserted-by":"crossref","unstructured":"Weinreb NJ, Charrow J, Andersson HC, et al. Effectiveness of enzyme replacement therapy in 1028 patients with non-neuronopathic Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry. Am J Med.\u20082002;113(2):112\u2013119","DOI":"10.1016\/S0002-9343(02)01150-6"},{"key":"2021120822314714400_R18","doi-asserted-by":"crossref","unstructured":"Barranger JA, O'Rourke E. Lessons learned from the development of enzyme therapy for Gaucher disease. J Inherit Metab Dis.\u20082001;24(suppl 2):89\u201396","DOI":"10.1023\/A:1012440428282"},{"key":"2021120822314714400_R19","doi-asserted-by":"crossref","unstructured":"Vellodi A, Bembi B, de Villemeur TB, et al. Management of neuronopathic Gaucher disease: a European consensus. J Inherit Metab Dis.\u20082001;24(3):319\u2013327","DOI":"10.1023\/A:1010514614570"},{"key":"2021120822314714400_R20","doi-asserted-by":"crossref","unstructured":"Altarescu G, Schiffmann R, Parker CC, et al. Comparative efficacy of dose regimens in enzyme replacement therapy of type I Gaucher disease. Blood Cells Mol Dis.\u20082000;26(4):285\u2013290","DOI":"10.1006\/bcmd.2000.0310"},{"key":"2021120822314714400_R21","unstructured":"Kuczmarski RJ, Ogden CL, Grummer-Strawn LM, et al. CDC growth charts: United States. Adv Data.\u20082000;(314):1\u201327"},{"key":"2021120822314714400_R22","unstructured":"Ludwig J. Current Methods of Autopsy Practice. 2nd ed. Philadelphia, PA: Saunders; 1979"},{"key":"2021120822314714400_R23","doi-asserted-by":"crossref","unstructured":"Elstein D, Hadas-Halpern I, Azuri Y, Abrahamov A, Bar-Ziv Y, Zimran A. Accuracy of ultrasonography in assessing spleen and liver size in patients with Gaucher disease. J Ultrasound Med.\u20081997;16(3):209\u2013211","DOI":"10.7863\/jum.1997.16.3.209"},{"key":"2021120822314714400_R24","doi-asserted-by":"crossref","unstructured":"Hui SL, Gao S, Zhou XH, et al. Universal standardization of bone density measurements: a method with optimal properties for calibration among several instruments. J Bone Miner Res.\u20081997;12(9):1463\u20131470","DOI":"10.1359\/jbmr.1997.12.9.1463"},{"key":"2021120822314714400_R25","doi-asserted-by":"crossref","unstructured":"Binkley N, Bilezikian JP, Kendler DL, Leib ES, Lewiecki EM, Petak SM. Official positions of the International Society for Clinical Densitometry and Executive Summary of the 2005 Position Development Conference. J Clin Densitom.\u20082006;9(1):4\u201314","DOI":"10.1016\/j.jocd.2006.05.002"},{"key":"2021120822314714400_R26","doi-asserted-by":"crossref","unstructured":"Holford N, Sheiner L. Understanding the dose-effect relationship: clinical application of pharmacokinetic-pharmacodynamic models. Clin Pharmacokinet.\u20081981;6(6):429\u2013435","DOI":"10.2165\/00003088-198106060-00002"},{"key":"2021120822314714400_R27","doi-asserted-by":"crossref","unstructured":"Dweck A, Abrahamov A, Hadas-Halpern I, Bdolach-Avram T, Zimran A, Elstein D. Type I Gaucher disease in children with and without enzyme therapy. Pediatr Hematol Oncol.\u20082002;19(6):389\u2013397","DOI":"10.1080\/08880010290097143"},{"key":"2021120822314714400_R28","doi-asserted-by":"crossref","unstructured":"Wenstrup RJ, Kacena KA, Kaplan P, et al. Effect of enzyme replacement therapy on bone mineral density in type 1 Gaucher disease. J Bone Miner Res.\u20082007;22(1):119\u2013126","DOI":"10.1359\/jbmr.061004"},{"key":"2021120822314714400_R29","doi-asserted-by":"crossref","unstructured":"Bonjour JP, Theintz G, Buchs B, Slosman D, Rizzoli R. Critical years and stages of puberty for spinal and femoral bone mass accumulation during adolescence. J Clin Endocrinol Metab.\u20081991;73(3):555\u2013563","DOI":"10.1210\/jcem-73-3-555"},{"key":"2021120822314714400_R30","doi-asserted-by":"crossref","unstructured":"Matkovic V, Jelic T, Wardlaw GM, et al. Timing of peak bone mass in Caucasian females and its implication for the prevention of osteoporosis. J Clin Invest.\u20081994;93(2):799\u2013808","DOI":"10.1172\/JCI117034"},{"key":"2021120822314714400_R31","doi-asserted-by":"crossref","unstructured":"Goulding A, Jones IE, Taylor RW, et al. More broken bones: a 4-year double cohort study of young girls with and without distal forearm fractures. J Bone Miner Res.\u20082000;15(10):2011\u20132018","DOI":"10.1359\/jbmr.2000.15.10.2011"},{"key":"2021120822314714400_R32","doi-asserted-by":"crossref","unstructured":"Charrow J, Dulisse B, Grabowski GA, Weinreb NJ. The effect of enzyme replacement therapy on bone crisis and bone pain in patients with type 1 Gaucher disease. Clin Genet.\u20082007;71(3):205\u2013211","DOI":"10.1111\/j.1399-0004.2007.00769.x"},{"key":"2021120822314714400_R33","doi-asserted-by":"crossref","unstructured":"Grinzaid KA, Geller E, Hanna SL, Elsas LJ II. Cessation of enzyme replacement therapy in Gaucher disease. Genet Med.\u20082002;4(6):427\u2013433","DOI":"10.1097\/00125817-200211000-00005"},{"key":"2021120822314714400_R34","doi-asserted-by":"crossref","unstructured":"To\u0301th J, Erdos M, Maro\u0301di L. Rebound hepatosplenomegaly in type 1 Gaucher disease. Eur J Haematol.\u20082003;70(2):125\u2013128","DOI":"10.1034\/j.1600-0609.2003.00010.x"},{"key":"2021120822314714400_R35","doi-asserted-by":"crossref","unstructured":"Drelichman G, Ponce E, Basack N, et al. Clinical consequences of interrupting enzyme replacement therapy in children with type 1 Gaucher disease. J Pediatr.\u20082007;151(2):197\u2013201","DOI":"10.1016\/j.jpeds.2007.02.057"}],"container-title":["Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/122\/6\/1182\/1033459\/zpe01208001182.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/122\/6\/1182\/1033459\/zpe01208001182.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,9]],"date-time":"2021-12-09T02:01:44Z","timestamp":1639015304000},"score":1,"resource":{"primary":{"URL":"https:\/\/publications.aap.org\/pediatrics\/article\/122\/6\/1182\/68798\/Eight-Year-Clinical-Outcomes-of-Long-Term-Enzyme"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,12,1]]},"references-count":35,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2008,12,1]]},"published-print":{"date-parts":[[2008,12,1]]}},"URL":"https:\/\/doi.org\/10.1542\/peds.2007-2144","relation":{},"ISSN":["0031-4005","1098-4275"],"issn-type":[{"value":"0031-4005","type":"print"},{"value":"1098-4275","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,12,1]]}}}