{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,16]],"date-time":"2023-09-16T13:10:14Z","timestamp":1694869814504},"reference-count":17,"publisher":"Wiley","issue":"S3","license":[{"start":{"date-parts":[[2010,1,5]],"date-time":"2010-01-05T00:00:00Z","timestamp":1262649600000},"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>A 5\u2010year\u2010old girl was referred to the Department of Pediatrics and Neonatology, Guglielmo da Saliceto Hospital, Italy, because of growth retardation. Clinical and laboratory investigations showed pallor, hepatosplenomegaly, anemia and low\/normal platelet count. Further investigations led to the diagnosis of Gaucher disease (GD). We believe this is the first report of growth hormone deficiency in a growth\u2010retarded child with GD. After 1 year of imiglucerase replacement enzyme therapy, her bone age had normalized, linear growth rate had accelerated, and insulin growth factor\u20101 (IGF\u20101) and, perhaps more interestingly, growth hormone deficiency, had normalized. While the pathophysiological mechanisms underlying compromised growth in GD are poorly understood, the response to imiglucerase reported in this patient suggests that growth hormone deficiency is related to the underlying metabolic disorder in GD, rather than a primary endocrine pathology. Growth hormone deficiency adds to an already extensive list of possible clinical manifestations of this heterogeneous and complex disorder.<\/jats:p>","DOI":"10.1007\/s10545-009-9016-7","type":"journal-article","created":{"date-parts":[[2010,1,4]],"date-time":"2010-01-04T09:38:47Z","timestamp":1262597927000},"page":"51-54","source":"Crossref","is-referenced-by-count":2,"title":["Pediatric Gaucher disease type I and mild growth hormone deficiency: a new feature?"],"prefix":"10.1002","volume":"33","author":[{"given":"Giacomo","family":"Biasucci","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Neonatology Guglielmo da Saliceto Hospital Cantone del Cristo 50 Piacenza 29100 Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Piera","family":"Manfredi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Neonatology Guglielmo da Saliceto Hospital Cantone del Cristo 50 Piacenza 29100 Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2010,1,5]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2007-2144"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0026-0495(89)90165-0"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1080\/08880010290097143"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1006\/bcmd.1997.0137"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.160.6.603"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(96)70203-2"},{"key":"e_1_2_5_8_1","first-page":"158","article-title":"Delayed growth and puberty in patients with Gaucher disease type 1: natural history and effect of splenectomy and\/or enzyme replacement therapy","volume":"2","author":"Kauli R","year":"2000","journal-title":"Isr Med Assoc J"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-007-0715-7"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.seminhematol.2004.07.009"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-200207000-00020"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1079\/NRR19900010"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.51.3.170"},{"key":"e_1_2_5_14_1","first-page":"189","volume-title":"Textbook of pediatric nutrition","author":"Vitery FE","year":"1981"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.seminhematol.2004.07.010"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9343(02)01150-6"},{"key":"e_1_2_5_17_1","first-page":"565","article-title":"Adult\u2010type Gaucher disease in children: genetics, clinical features and enzyme replacement therapy","volume":"86","author":"Zevin S","year":"1993","journal-title":"Q J Med"},{"key":"e_1_2_5_18_1","first-page":"80","article-title":"Children with type I Gaucher disease: growing into adulthood with and without enzyme therapy","volume":"2","author":"Zimran A","year":"2000","journal-title":"Isr Med Assoc J"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-009-9016-7","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T06:22:38Z","timestamp":1694758958000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-009-9016-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,1,5]]},"references-count":17,"journal-issue":{"issue":"S3","published-print":{"date-parts":[[2010,12]]}},"alternative-id":["10.1007\/s10545-009-9016-7"],"URL":"https:\/\/doi.org\/10.1007\/s10545-009-9016-7","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,1,5]]}}}