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Should neonatal hyperparathyroidism associated with mucolipidosis II/III be treated pharmacologically?a

  • Taciane Alegra , Gabriela Cury , Luiz Alberto Todeschini and Ida V.D. Schwartz EMAIL logo

Corresponding author: Ida V.D. Schwartz, Medical Genetics Service, Hospital de Clínicas de Porto Alegre, R. Ramiro Barcelos, 2.350 Porto Alegre, Rio Grande do Sul 90035-903, Brazil, Phone: +55 51 33598000, Fax: +55 51 33598001, E-mail:

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    Financial support: Fundo de Pesquisa de Incentivo à Pesquisa e Eventos do Hospital de Clínicas de Porto Alegre (FIPE/HCPA). Programa de Apoio a Núcleos de Excelência (PRONEX) CNPq/FAPERGS; Edital MCT/CNPq – No. 14/2012 – Universal.

References

1. Lin MH, Pitukcheewanont P. Mucolipidosis type II (I-cell disease) masquerading as rickets: two case reports and review of literature. J Pediatr Endocrinol Metab 2012;25: 191–5.Search in Google Scholar

2. Leroy JG, Cathey S, Friez MJ. Mucolipidosis II. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews. Seattle (WA): University of Washington, Seattle, 2012. Available at http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene.Search in Google Scholar

3. Spranger JW, Brill PW, Poznanski A. Bone dysplasias: Atlas of genetic disorders of skeletal development, 2nd ed. New York, NY: Oxford University Press, 2002:295–9.Search in Google Scholar

4. David-Vizcarra G, Briody J, Ault J, Fietz M, Fletcher J, et al. The natural history and osteodystrophy of mucolipidosis types II and III. J Paediatr Child Health 2010;46: 316–22.10.1111/j.1440-1754.2010.01715.xSearch in Google Scholar PubMed PubMed Central

5. Sathasivam A, Garibaldi L, Murphy R, Ibrahim J. Transient neonatal hyperparathyroidism: a presenting feature of mucolipidosis type II. J Pediatr Endocrinol Metab 2006;19:859–62.10.1515/JPEM.2006.19.6.859Search in Google Scholar

6. Otomo T, Yamamoto T, Fujikawa Y, Shimotsuji T, Ozono K. Elevated bone turnover in an infantile patient with mucolipidosis II; no association with hyperparathyroidism. Clin Pediatr Endocrinol 2011;20:7–12.10.1297/cpe.20.7Search in Google Scholar PubMed PubMed Central

Received: 2012-11-13
Accepted: 2013-4-18
Published Online: 2013-05-24
Published in Print: 2013-10-01

©2013 by Walter de Gruyter Berlin Boston

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